Incidental Mutation 'R6382:Shkbp1'
| ID |
515370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| MMRRC Submission |
044531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6382 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 27051484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 192
(E192*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
[ENSMUST00000011895]
[ENSMUST00000108362]
[ENSMUST00000108363]
[ENSMUST00000108364]
[ENSMUST00000172269]
|
| AlphaFold |
Q6P7W2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003857
AA Change: E192*
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: E192*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
19 |
119 |
1.65e-16 |
SMART |
|
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
|
Blast:WD40
|
196 |
271 |
1e-21 |
BLAST |
|
WD40
|
277 |
313 |
1.9e2 |
SMART |
|
WD40
|
419 |
457 |
3.45e-1 |
SMART |
|
WD40
|
527 |
577 |
3.68e1 |
SMART |
|
low complexity region
|
612 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011895
|
| SMART Domains |
Protein: ENSMUSP00000011895
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
|
CH
|
64 |
164 |
8.03e-24 |
SMART |
|
CH
|
183 |
281 |
7.38e-23 |
SMART |
|
Pfam:Spectrin
|
310 |
420 |
1.4e-10 |
PFAM |
|
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
|
SPEC
|
539 |
642 |
7.62e-19 |
SMART |
|
SPEC
|
648 |
766 |
1.31e-8 |
SMART |
|
SPEC
|
772 |
874 |
2.94e-11 |
SMART |
|
SPEC
|
880 |
980 |
1.49e-21 |
SMART |
|
SPEC
|
986 |
1081 |
1.65e0 |
SMART |
|
SPEC
|
1087 |
1192 |
2.82e-13 |
SMART |
|
SPEC
|
1198 |
1298 |
6.59e-14 |
SMART |
|
SPEC
|
1304 |
1403 |
4.08e-19 |
SMART |
|
SPEC
|
1409 |
1508 |
5.92e-7 |
SMART |
|
SPEC
|
1514 |
1614 |
2.45e-22 |
SMART |
|
SPEC
|
1620 |
1720 |
1.45e-24 |
SMART |
|
SPEC
|
1726 |
1827 |
1.86e-22 |
SMART |
|
SPEC
|
1833 |
1935 |
9.54e-11 |
SMART |
|
SPEC
|
1941 |
2041 |
1.35e-19 |
SMART |
|
SPEC
|
2047 |
2297 |
1.06e-8 |
SMART |
|
low complexity region
|
2358 |
2412 |
N/A |
INTRINSIC |
|
PH
|
2416 |
2526 |
1.54e-14 |
SMART |
|
low complexity region
|
2549 |
2560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108362
|
| SMART Domains |
Protein: ENSMUSP00000103999
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
|
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
|
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
|
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
|
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
|
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
|
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
|
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
|
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
|
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
|
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108363
|
| SMART Domains |
Protein: ENSMUSP00000104000
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
|
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
|
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
|
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
|
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
|
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
|
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
|
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
|
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
|
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
|
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108364
|
| SMART Domains |
Protein: ENSMUSP00000104001
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
|
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
|
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
|
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
|
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
|
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
|
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
|
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
|
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
|
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
|
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123190
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172269
|
| SMART Domains |
Protein: ENSMUSP00000132807
Gene: ENSMUSG00000011751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
|
CH
|
64 |
164 |
8.03e-24 |
SMART |
|
CH
|
183 |
281 |
7.38e-23 |
SMART |
|
Pfam:Spectrin
|
310 |
420 |
1.9e-10 |
PFAM |
|
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
|
SPEC
|
539 |
637 |
3.45e-17 |
SMART |
|
SPEC
|
643 |
761 |
1.31e-8 |
SMART |
|
SPEC
|
767 |
869 |
2.94e-11 |
SMART |
|
SPEC
|
875 |
975 |
1.49e-21 |
SMART |
|
SPEC
|
981 |
1076 |
1.65e0 |
SMART |
|
SPEC
|
1082 |
1187 |
2.82e-13 |
SMART |
|
SPEC
|
1193 |
1293 |
6.59e-14 |
SMART |
|
SPEC
|
1299 |
1398 |
4.08e-19 |
SMART |
|
SPEC
|
1404 |
1503 |
5.92e-7 |
SMART |
|
SPEC
|
1509 |
1609 |
2.45e-22 |
SMART |
|
SPEC
|
1615 |
1715 |
1.45e-24 |
SMART |
|
SPEC
|
1721 |
1822 |
1.86e-22 |
SMART |
|
SPEC
|
1828 |
1930 |
9.54e-11 |
SMART |
|
SPEC
|
1936 |
2036 |
1.35e-19 |
SMART |
|
SPEC
|
2042 |
2292 |
1.06e-8 |
SMART |
|
low complexity region
|
2352 |
2406 |
N/A |
INTRINSIC |
|
PH
|
2410 |
2520 |
1.54e-14 |
SMART |
|
low complexity region
|
2543 |
2554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143239
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,418,850 (GRCm39) |
M148K |
probably benign |
Het |
| Aldoc |
T |
C |
11: 78,216,568 (GRCm39) |
I242T |
probably benign |
Het |
| Camta2 |
T |
C |
11: 70,562,867 (GRCm39) |
T927A |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,261,363 (GRCm39) |
R25G |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,348,175 (GRCm39) |
M181L |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,710,577 (GRCm39) |
|
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,276,858 (GRCm39) |
R110L |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,804,461 (GRCm39) |
S2264N |
unknown |
Het |
| Cspp1 |
A |
G |
1: 10,153,700 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,479,373 (GRCm39) |
L213Q |
probably damaging |
Het |
| Cuta |
T |
C |
17: 27,157,428 (GRCm39) |
Q124R |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,607,973 (GRCm39) |
N200K |
probably damaging |
Het |
| Dag1 |
C |
A |
9: 108,085,336 (GRCm39) |
A602S |
possibly damaging |
Het |
| Ftdc1 |
T |
C |
16: 58,434,273 (GRCm39) |
E148G |
possibly damaging |
Het |
| Gm4707 |
G |
A |
17: 71,766,238 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| H2-T23 |
T |
C |
17: 36,342,724 (GRCm39) |
Y138C |
probably damaging |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 43,376,641 (GRCm39) |
L37P |
possibly damaging |
Het |
| Hsd17b6 |
A |
T |
10: 127,827,196 (GRCm39) |
I292N |
probably damaging |
Het |
| Hsp90aa1 |
A |
T |
12: 110,661,951 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
A |
19: 34,572,283 (GRCm39) |
Y58F |
probably benign |
Het |
| Igkv10-95 |
A |
G |
6: 68,657,672 (GRCm39) |
T43A |
probably benign |
Het |
| Igkv6-17 |
C |
T |
6: 70,348,814 (GRCm39) |
Q62* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,704,244 (GRCm39) |
S367P |
possibly damaging |
Het |
| Lrrc40 |
A |
G |
3: 157,764,333 (GRCm39) |
D416G |
probably damaging |
Het |
| Mdm2 |
A |
G |
10: 117,528,626 (GRCm39) |
V177A |
probably benign |
Het |
| Mpp1 |
TGAGACGAACTCTCCGAG |
TGAG |
X: 74,169,375 (GRCm39) |
|
probably null |
Het |
| Myo1b |
C |
T |
1: 51,813,466 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,048,859 (GRCm39) |
D1799G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,890,239 (GRCm39) |
G7431D |
unknown |
Het |
| Obscn |
A |
T |
11: 58,933,034 (GRCm39) |
C4781S |
probably damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,899 (GRCm39) |
I220N |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,351 (GRCm39) |
S65Y |
probably damaging |
Het |
| Pard3 |
T |
A |
8: 128,103,264 (GRCm39) |
V411D |
probably damaging |
Het |
| Pfkl |
T |
C |
10: 77,835,671 (GRCm39) |
R246G |
probably damaging |
Het |
| Pgs1 |
T |
C |
11: 117,894,186 (GRCm39) |
Y238H |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,665,724 (GRCm39) |
E15G |
possibly damaging |
Het |
| Pja2 |
A |
G |
17: 64,616,610 (GRCm39) |
V95A |
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,861,828 (GRCm39) |
I207T |
possibly damaging |
Het |
| Rps15 |
A |
G |
10: 80,129,820 (GRCm39) |
Y115C |
probably damaging |
Het |
| Slc23a4 |
T |
A |
6: 34,933,978 (GRCm39) |
M42L |
probably benign |
Het |
| Snx25 |
T |
A |
8: 46,509,028 (GRCm39) |
S373C |
probably benign |
Het |
| Sppl2a |
A |
T |
2: 126,758,949 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,675 (GRCm39) |
T45I |
possibly damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,823,486 (GRCm39) |
S256P |
possibly damaging |
Het |
| Txk |
C |
T |
5: 72,893,823 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,268,241 (GRCm39) |
W991S |
possibly damaging |
Het |
| Ufc1 |
A |
G |
1: 171,122,248 (GRCm39) |
W28R |
probably damaging |
Het |
| Unc93b1 |
C |
A |
19: 3,985,297 (GRCm39) |
A35E |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,546,499 (GRCm39) |
N3425S |
probably benign |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,345 (GRCm39) |
Y144H |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,426 (GRCm39) |
F228L |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,243,813 (GRCm39) |
N715D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,910,325 (GRCm39) |
S424G |
probably benign |
Het |
|
| Other mutations in Shkbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Shkbp1
|
APN |
7 |
27,054,676 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01469:Shkbp1
|
APN |
7 |
27,055,366 (GRCm39) |
missense |
probably benign |
|
|
IGL01787:Shkbp1
|
APN |
7 |
27,041,875 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02149:Shkbp1
|
APN |
7 |
27,042,064 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02902:Shkbp1
|
APN |
7 |
27,042,141 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0086:Shkbp1
|
UTSW |
7 |
27,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0219:Shkbp1
|
UTSW |
7 |
27,051,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0485:Shkbp1
|
UTSW |
7 |
27,048,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Shkbp1
|
UTSW |
7 |
27,044,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Shkbp1
|
UTSW |
7 |
27,054,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1757:Shkbp1
|
UTSW |
7 |
27,041,776 (GRCm39) |
missense |
probably benign |
|
|
R1968:Shkbp1
|
UTSW |
7 |
27,054,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2763:Shkbp1
|
UTSW |
7 |
27,046,454 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3027:Shkbp1
|
UTSW |
7 |
27,042,818 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3924:Shkbp1
|
UTSW |
7 |
27,041,827 (GRCm39) |
missense |
probably benign |
|
|
R4425:Shkbp1
|
UTSW |
7 |
27,042,727 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5048:Shkbp1
|
UTSW |
7 |
27,051,521 (GRCm39) |
unclassified |
probably benign |
|
|
R5862:Shkbp1
|
UTSW |
7 |
27,042,829 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Shkbp1
|
UTSW |
7 |
27,041,949 (GRCm39) |
missense |
probably benign |
|
|
R6016:Shkbp1
|
UTSW |
7 |
27,053,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6226:Shkbp1
|
UTSW |
7 |
27,051,405 (GRCm39) |
missense |
probably null |
1.00 |
|
R6362:Shkbp1
|
UTSW |
7 |
27,051,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6460:Shkbp1
|
UTSW |
7 |
27,049,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6647:Shkbp1
|
UTSW |
7 |
27,041,800 (GRCm39) |
missense |
probably benign |
|
|
R7025:Shkbp1
|
UTSW |
7 |
27,054,706 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7255:Shkbp1
|
UTSW |
7 |
27,042,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7522:Shkbp1
|
UTSW |
7 |
27,046,583 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7571:Shkbp1
|
UTSW |
7 |
27,046,556 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8207:Shkbp1
|
UTSW |
7 |
27,052,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8770:Shkbp1
|
UTSW |
7 |
27,051,311 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8996:Shkbp1
|
UTSW |
7 |
27,042,844 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9361:Shkbp1
|
UTSW |
7 |
27,051,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Shkbp1
|
UTSW |
7 |
27,046,442 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Shkbp1
|
UTSW |
7 |
27,046,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGGGATTGAGGGACATC -3'
(R):5'- AGAACAAACTTGGGTTGTCCGG -3'
Sequencing Primer
(F):5'- GATTGAGGGACATCAGTAACCCC -3'
(R):5'- CCAGGACTGCTTTTGTATGCTGAAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation