Incidental Mutation 'R8189:Bag6'
| ID |
652062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bag6
|
| Ensembl Gene |
ENSMUSG00000024392 |
| Gene Name |
BCL2-associated athanogene 6 |
| Synonyms |
2410045D21Rik, G3, D17H6S52E, Bat3, Scythe |
| MMRRC Submission |
067612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35354154-35366298 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 35364214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025250]
[ENSMUST00000025250]
[ENSMUST00000025253]
[ENSMUST00000166426]
[ENSMUST00000166426]
[ENSMUST00000172571]
[ENSMUST00000172571]
[ENSMUST00000173491]
[ENSMUST00000173535]
[ENSMUST00000173550]
[ENSMUST00000173550]
[ENSMUST00000173952]
[ENSMUST00000174281]
[ENSMUST00000174281]
[ENSMUST00000174805]
|
| AlphaFold |
Q9Z1R2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025250
|
| SMART Domains |
Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
277 |
393 |
1.7e-44 |
PFAM |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1088 |
1098 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000025250
|
| SMART Domains |
Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
277 |
393 |
1.7e-44 |
PFAM |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1088 |
1098 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025253
|
| SMART Domains |
Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
189 |
1.2e-70 |
PFAM |
|
low complexity region
|
243 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
|
coiled coil region
|
455 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
755 |
768 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
944 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1070 |
N/A |
INTRINSIC |
|
low complexity region
|
1129 |
1149 |
N/A |
INTRINSIC |
|
low complexity region
|
1162 |
1179 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1234 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1300 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1394 |
1424 |
N/A |
INTRINSIC |
|
low complexity region
|
1430 |
1456 |
N/A |
INTRINSIC |
|
low complexity region
|
1488 |
1511 |
N/A |
INTRINSIC |
|
low complexity region
|
1553 |
1565 |
N/A |
INTRINSIC |
|
low complexity region
|
1693 |
1713 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1810 |
1860 |
5.56e-5 |
PROSPERO |
|
low complexity region
|
1879 |
1895 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1924 |
1983 |
5.56e-5 |
PROSPERO |
|
low complexity region
|
1995 |
2017 |
N/A |
INTRINSIC |
|
low complexity region
|
2019 |
2041 |
N/A |
INTRINSIC |
|
low complexity region
|
2070 |
2086 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166426
|
| SMART Domains |
Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
259 |
375 |
3.7e-53 |
PFAM |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1070 |
1080 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166426
|
| SMART Domains |
Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
259 |
375 |
3.7e-53 |
PFAM |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1070 |
1080 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172571
|
| SMART Domains |
Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
252 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
254 |
370 |
3.5e-53 |
PFAM |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172571
|
| SMART Domains |
Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
252 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
254 |
370 |
3.5e-53 |
PFAM |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
625 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173491
|
| SMART Domains |
Protein: ENSMUSP00000134279
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173535
|
| SMART Domains |
Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
UBQ
|
58 |
128 |
5.62e-22 |
SMART |
|
low complexity region
|
137 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
305 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
318 |
434 |
1.3e-53 |
PFAM |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173550
|
| SMART Domains |
Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
259 |
375 |
3.7e-53 |
PFAM |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
1046 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173550
|
| SMART Domains |
Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
259 |
375 |
3.7e-53 |
PFAM |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
1046 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173952
|
| SMART Domains |
Protein: ENSMUSP00000134717
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
UBQ
|
58 |
128 |
5.62e-22 |
SMART |
|
low complexity region
|
137 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174281
|
| SMART Domains |
Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
277 |
393 |
3.6e-53 |
PFAM |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1077 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000174281
|
| SMART Domains |
Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
|
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
Pfam:DUF3538
|
277 |
393 |
3.6e-53 |
PFAM |
|
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
1064 |
1077 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174805
|
| SMART Domains |
Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAT2_N
|
1 |
137 |
6.6e-53 |
PFAM |
|
low complexity region
|
188 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
|
coiled coil region
|
400 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1094 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1124 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1179 |
1187 |
N/A |
INTRINSIC |
|
low complexity region
|
1230 |
1245 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1305 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1369 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1401 |
N/A |
INTRINSIC |
|
low complexity region
|
1433 |
1456 |
N/A |
INTRINSIC |
|
low complexity region
|
1498 |
1510 |
N/A |
INTRINSIC |
|
low complexity region
|
1638 |
1658 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1755 |
1804 |
3.99e-5 |
PROSPERO |
|
low complexity region
|
1823 |
1839 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1868 |
1927 |
3.99e-5 |
PROSPERO |
|
low complexity region
|
1939 |
1961 |
N/A |
INTRINSIC |
|
low complexity region
|
1963 |
1985 |
N/A |
INTRINSIC |
|
low complexity region
|
2014 |
2030 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in either embryonic lethality following abnormal brain development or neonatal death associated with severe developmental defects in the lung and kidney. These developmental defects are associated with widespread aberrant apoptosis and proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,885 (GRCm39) |
I1531T |
probably damaging |
Het |
| Ankrd13d |
G |
A |
19: 4,320,880 (GRCm39) |
P516S |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,837,563 (GRCm39) |
I422V |
probably benign |
Het |
| Ceacam1 |
A |
G |
7: 25,173,343 (GRCm39) |
S282P |
probably damaging |
Het |
| Chka |
G |
T |
19: 3,925,759 (GRCm39) |
E159* |
probably null |
Het |
| Ckmt2 |
T |
C |
13: 92,003,894 (GRCm39) |
Y368C |
probably damaging |
Het |
| Cngb1 |
TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG |
TTCTGGCTCTGGCTCTGGCTCTGG |
8: 96,030,248 (GRCm39) |
|
probably benign |
Het |
| Ctsq |
A |
G |
13: 61,184,969 (GRCm39) |
L239P |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,135,106 (GRCm39) |
L1358P |
probably damaging |
Het |
| Dglucy |
G |
A |
12: 100,804,889 (GRCm39) |
E127K |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,910,077 (GRCm39) |
L794P |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,774,629 (GRCm39) |
T654I |
probably damaging |
Het |
| Gmeb2 |
G |
A |
2: 180,919,760 (GRCm39) |
T38M |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,108,625 (GRCm39) |
F243L |
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,629,489 (GRCm39) |
D244E |
probably damaging |
Het |
| Ints2 |
T |
A |
11: 86,106,396 (GRCm39) |
I1005F |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,061,604 (GRCm39) |
S19C |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,756 (GRCm39) |
F2658L |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,013,164 (GRCm39) |
D27G |
probably damaging |
Het |
| Mrgprb2 |
G |
T |
7: 48,202,502 (GRCm39) |
Y74* |
probably null |
Het |
| Mtrex |
T |
A |
13: 113,028,515 (GRCm39) |
R628S |
possibly damaging |
Het |
| Nrcam |
C |
A |
12: 44,617,291 (GRCm39) |
P740T |
possibly damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,011,637 (GRCm39) |
V331I |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,013 (GRCm39) |
V157A |
probably benign |
Het |
| Or4f17-ps1 |
T |
C |
2: 111,358,118 (GRCm39) |
V153A |
|
Het |
| Or5k1b |
T |
A |
16: 58,581,288 (GRCm39) |
N84Y |
probably damaging |
Het |
| Or5p52 |
A |
G |
7: 107,501,939 (GRCm39) |
N5S |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,377,122 (GRCm39) |
C239S |
probably damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,733,337 (GRCm39) |
F479L |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,819,404 (GRCm39) |
F104I |
probably damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,204,039 (GRCm39) |
C58S |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,254,022 (GRCm39) |
V260A |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,433,439 (GRCm39) |
T1395A |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,144,570 (GRCm39) |
I95T |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,635,575 (GRCm39) |
V599A |
probably benign |
Het |
| Ttk |
A |
G |
9: 83,729,272 (GRCm39) |
S352G |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,555 (GRCm39) |
D196N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,713 (GRCm39) |
F664L |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,478,618 (GRCm39) |
L43Q |
probably damaging |
Het |
|
| Other mutations in Bag6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Bag6
|
APN |
17 |
35,363,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00489:Bag6
|
APN |
17 |
35,363,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01613:Bag6
|
APN |
17 |
35,361,992 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01735:Bag6
|
APN |
17 |
35,364,737 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02146:Bag6
|
APN |
17 |
35,355,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03092:Bag6
|
APN |
17 |
35,364,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Bag6
|
APN |
17 |
35,363,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hobbit
|
UTSW |
17 |
35,364,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
Hunter
|
UTSW |
17 |
35,364,214 (GRCm39) |
splice site |
probably null |
|
|
R0196:Bag6
|
UTSW |
17 |
35,363,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Bag6
|
UTSW |
17 |
35,360,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Bag6
|
UTSW |
17 |
35,364,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1450:Bag6
|
UTSW |
17 |
35,360,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1686:Bag6
|
UTSW |
17 |
35,363,928 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1869:Bag6
|
UTSW |
17 |
35,361,802 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2034:Bag6
|
UTSW |
17 |
35,363,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2205:Bag6
|
UTSW |
17 |
35,363,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2428:Bag6
|
UTSW |
17 |
35,366,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2987:Bag6
|
UTSW |
17 |
35,364,661 (GRCm39) |
nonsense |
probably null |
|
|
R4691:Bag6
|
UTSW |
17 |
35,358,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Bag6
|
UTSW |
17 |
35,361,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Bag6
|
UTSW |
17 |
35,364,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Bag6
|
UTSW |
17 |
35,364,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Bag6
|
UTSW |
17 |
35,363,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Bag6
|
UTSW |
17 |
35,365,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6118:Bag6
|
UTSW |
17 |
35,362,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6212:Bag6
|
UTSW |
17 |
35,359,278 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6279:Bag6
|
UTSW |
17 |
35,357,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Bag6
|
UTSW |
17 |
35,357,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Bag6
|
UTSW |
17 |
35,359,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6783:Bag6
|
UTSW |
17 |
35,363,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6927:Bag6
|
UTSW |
17 |
35,364,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7226:Bag6
|
UTSW |
17 |
35,361,921 (GRCm39) |
missense |
unknown |
|
|
R7490:Bag6
|
UTSW |
17 |
35,359,818 (GRCm39) |
missense |
unknown |
|
|
R7499:Bag6
|
UTSW |
17 |
35,363,368 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7688:Bag6
|
UTSW |
17 |
35,365,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8016:Bag6
|
UTSW |
17 |
35,357,733 (GRCm39) |
missense |
unknown |
|
|
R8066:Bag6
|
UTSW |
17 |
35,361,283 (GRCm39) |
missense |
unknown |
|
|
R8424:Bag6
|
UTSW |
17 |
35,365,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Bag6
|
UTSW |
17 |
35,363,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Bag6
|
UTSW |
17 |
35,363,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Bag6
|
UTSW |
17 |
35,361,041 (GRCm39) |
missense |
unknown |
|
|
R9022:Bag6
|
UTSW |
17 |
35,363,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Bag6
|
UTSW |
17 |
35,363,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9128:Bag6
|
UTSW |
17 |
35,363,688 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9135:Bag6
|
UTSW |
17 |
35,362,437 (GRCm39) |
missense |
unknown |
|
|
R9186:Bag6
|
UTSW |
17 |
35,363,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Bag6
|
UTSW |
17 |
35,365,053 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Bag6
|
UTSW |
17 |
35,358,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Bag6
|
UTSW |
17 |
35,361,900 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGGGCTGGAAGAGTATG -3'
(R):5'- GCAAGCTCCATTTGCTGTCC -3'
Sequencing Primer
(F):5'- CCTTCCAGTCAGGGTTTGG -3'
(R):5'- TCAAACAGGCCCTGGTTA -3'
|
| Posted On |
2020-10-02 |
Incidental Mutation