Incidental Mutation 'R3954:Nkx6-3'
| ID |
308104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkx6-3
|
| Ensembl Gene |
ENSMUSG00000063672 |
| Gene Name |
NK6 homeobox 3 |
| Synonyms |
9130417I07Rik, Nkx6.3 |
| MMRRC Submission |
040831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R3954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23643287-23648964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23643742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 48
(A48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071588]
[ENSMUST00000084038]
[ENSMUST00000110688]
[ENSMUST00000117296]
[ENSMUST00000117662]
[ENSMUST00000118733]
[ENSMUST00000121075]
[ENSMUST00000123418]
[ENSMUST00000141784]
[ENSMUST00000121802]
[ENSMUST00000173248]
[ENSMUST00000173573]
|
| AlphaFold |
Q3UHX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071588
AA Change: A48S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071517
Gene: ENSMUSG00000063672
AA Change: A48S
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
140 |
202 |
3.88e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084038
|
| SMART Domains |
Protein: ENSMUSP00000081051
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
low complexity region
|
1050 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1397 |
N/A |
INTRINSIC |
|
DEATH
|
1405 |
1499 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110688
|
| SMART Domains |
Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
39 |
N/A |
INTRINSIC |
|
ANK
|
44 |
73 |
2.5e3 |
SMART |
|
ANK
|
77 |
106 |
3.26e0 |
SMART |
|
ANK
|
110 |
139 |
3.15e-7 |
SMART |
|
ANK
|
143 |
172 |
9.05e-8 |
SMART |
|
ANK
|
176 |
204 |
4.67e-1 |
SMART |
|
ANK
|
205 |
234 |
1.42e0 |
SMART |
|
ANK
|
238 |
267 |
4.39e-6 |
SMART |
|
ANK
|
271 |
300 |
1.33e-5 |
SMART |
|
ANK
|
304 |
333 |
7.53e-5 |
SMART |
|
ANK
|
337 |
366 |
2.35e-6 |
SMART |
|
ANK
|
370 |
399 |
6.65e-6 |
SMART |
|
ANK
|
403 |
432 |
5.2e-8 |
SMART |
|
ANK
|
436 |
465 |
8.78e-6 |
SMART |
|
ANK
|
469 |
498 |
7.53e-5 |
SMART |
|
ANK
|
502 |
531 |
5.49e-7 |
SMART |
|
ANK
|
535 |
564 |
2.58e-3 |
SMART |
|
ANK
|
568 |
597 |
1.88e-5 |
SMART |
|
ANK
|
601 |
630 |
1.02e-6 |
SMART |
|
ANK
|
634 |
663 |
7.64e-6 |
SMART |
|
ANK
|
667 |
698 |
3.23e-4 |
SMART |
|
ANK
|
700 |
729 |
1.38e-3 |
SMART |
|
ANK
|
733 |
762 |
1.58e-7 |
SMART |
|
ANK
|
766 |
795 |
2.85e-5 |
SMART |
|
ZU5
|
944 |
1048 |
1.9e-60 |
SMART |
|
low complexity region
|
1071 |
1080 |
N/A |
INTRINSIC |
|
low complexity region
|
1408 |
1418 |
N/A |
INTRINSIC |
|
DEATH
|
1426 |
1520 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117296
|
| SMART Domains |
Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.5e3 |
SMART |
|
ANK
|
40 |
69 |
3.26e0 |
SMART |
|
ANK
|
73 |
102 |
3.15e-7 |
SMART |
|
ANK
|
106 |
135 |
9.05e-8 |
SMART |
|
ANK
|
139 |
167 |
4.67e-1 |
SMART |
|
ANK
|
168 |
197 |
1.42e0 |
SMART |
|
ANK
|
201 |
230 |
4.39e-6 |
SMART |
|
ANK
|
234 |
263 |
1.33e-5 |
SMART |
|
ANK
|
267 |
296 |
7.53e-5 |
SMART |
|
ANK
|
300 |
329 |
2.35e-6 |
SMART |
|
ANK
|
333 |
362 |
6.65e-6 |
SMART |
|
ANK
|
366 |
395 |
5.2e-8 |
SMART |
|
ANK
|
399 |
428 |
8.78e-6 |
SMART |
|
ANK
|
432 |
461 |
7.53e-5 |
SMART |
|
ANK
|
465 |
494 |
5.49e-7 |
SMART |
|
ANK
|
498 |
527 |
2.58e-3 |
SMART |
|
ANK
|
531 |
560 |
1.88e-5 |
SMART |
|
ANK
|
564 |
593 |
1.02e-6 |
SMART |
|
ANK
|
597 |
626 |
7.64e-6 |
SMART |
|
ANK
|
630 |
661 |
3.23e-4 |
SMART |
|
ANK
|
663 |
692 |
1.38e-3 |
SMART |
|
ANK
|
696 |
725 |
1.58e-7 |
SMART |
|
ANK
|
729 |
758 |
2.85e-5 |
SMART |
|
ZU5
|
907 |
1011 |
1.9e-60 |
SMART |
|
low complexity region
|
1034 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
DEATH
|
1389 |
1483 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117662
|
| SMART Domains |
Protein: ENSMUSP00000113531
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.5e3 |
SMART |
|
ANK
|
40 |
69 |
3.26e0 |
SMART |
|
ANK
|
73 |
102 |
3.15e-7 |
SMART |
|
ANK
|
106 |
135 |
9.05e-8 |
SMART |
|
ANK
|
139 |
167 |
4.67e-1 |
SMART |
|
ANK
|
168 |
197 |
1.42e0 |
SMART |
|
ANK
|
201 |
230 |
4.39e-6 |
SMART |
|
ANK
|
234 |
263 |
1.33e-5 |
SMART |
|
ANK
|
267 |
296 |
7.53e-5 |
SMART |
|
ANK
|
300 |
329 |
2.35e-6 |
SMART |
|
ANK
|
333 |
362 |
6.65e-6 |
SMART |
|
ANK
|
366 |
395 |
5.2e-8 |
SMART |
|
ANK
|
399 |
428 |
8.78e-6 |
SMART |
|
ANK
|
432 |
461 |
7.53e-5 |
SMART |
|
ANK
|
465 |
494 |
5.49e-7 |
SMART |
|
ANK
|
498 |
527 |
2.58e-3 |
SMART |
|
ANK
|
531 |
560 |
1.88e-5 |
SMART |
|
ANK
|
564 |
593 |
1.02e-6 |
SMART |
|
ANK
|
597 |
626 |
7.64e-6 |
SMART |
|
ANK
|
630 |
661 |
3.23e-4 |
SMART |
|
ANK
|
663 |
692 |
1.38e-3 |
SMART |
|
ANK
|
696 |
725 |
1.58e-7 |
SMART |
|
ANK
|
729 |
758 |
2.85e-5 |
SMART |
|
ZU5
|
907 |
1011 |
1.9e-60 |
SMART |
|
low complexity region
|
1034 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
DEATH
|
1389 |
1483 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118733
|
| SMART Domains |
Protein: ENSMUSP00000112850
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
low complexity region
|
1050 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1397 |
N/A |
INTRINSIC |
|
DEATH
|
1405 |
1499 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121075
|
| SMART Domains |
Protein: ENSMUSP00000112966
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141930
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123418
|
| SMART Domains |
Protein: ENSMUSP00000121785
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141784
|
| SMART Domains |
Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.5e3 |
SMART |
|
ANK
|
40 |
69 |
3.26e0 |
SMART |
|
ANK
|
73 |
102 |
3.15e-7 |
SMART |
|
ANK
|
106 |
135 |
9.05e-8 |
SMART |
|
ANK
|
139 |
167 |
4.67e-1 |
SMART |
|
ANK
|
168 |
197 |
1.42e0 |
SMART |
|
ANK
|
201 |
230 |
4.39e-6 |
SMART |
|
ANK
|
234 |
263 |
1.33e-5 |
SMART |
|
ANK
|
267 |
296 |
7.53e-5 |
SMART |
|
ANK
|
300 |
329 |
2.35e-6 |
SMART |
|
ANK
|
333 |
362 |
6.65e-6 |
SMART |
|
ANK
|
366 |
395 |
5.2e-8 |
SMART |
|
ANK
|
399 |
428 |
8.78e-6 |
SMART |
|
ANK
|
432 |
461 |
7.53e-5 |
SMART |
|
ANK
|
465 |
494 |
5.49e-7 |
SMART |
|
ANK
|
498 |
527 |
2.58e-3 |
SMART |
|
ANK
|
531 |
560 |
1.88e-5 |
SMART |
|
ANK
|
564 |
593 |
1.02e-6 |
SMART |
|
ANK
|
597 |
626 |
7.64e-6 |
SMART |
|
ANK
|
630 |
661 |
3.23e-4 |
SMART |
|
ANK
|
663 |
692 |
1.38e-3 |
SMART |
|
ANK
|
696 |
725 |
1.58e-7 |
SMART |
|
ANK
|
729 |
758 |
2.85e-5 |
SMART |
|
ZU5
|
907 |
1011 |
1.9e-60 |
SMART |
|
low complexity region
|
1034 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
DEATH
|
1389 |
1483 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121802
|
| SMART Domains |
Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
39 |
N/A |
INTRINSIC |
|
ANK
|
44 |
73 |
2.5e3 |
SMART |
|
ANK
|
77 |
106 |
3.26e0 |
SMART |
|
ANK
|
110 |
139 |
3.15e-7 |
SMART |
|
ANK
|
143 |
172 |
9.05e-8 |
SMART |
|
ANK
|
176 |
204 |
4.67e-1 |
SMART |
|
ANK
|
205 |
234 |
1.42e0 |
SMART |
|
ANK
|
238 |
267 |
4.39e-6 |
SMART |
|
ANK
|
271 |
300 |
1.33e-5 |
SMART |
|
ANK
|
304 |
333 |
7.53e-5 |
SMART |
|
ANK
|
337 |
366 |
2.35e-6 |
SMART |
|
ANK
|
370 |
399 |
6.65e-6 |
SMART |
|
ANK
|
403 |
432 |
5.2e-8 |
SMART |
|
ANK
|
436 |
465 |
8.78e-6 |
SMART |
|
ANK
|
469 |
498 |
7.53e-5 |
SMART |
|
ANK
|
502 |
531 |
5.49e-7 |
SMART |
|
ANK
|
535 |
564 |
2.58e-3 |
SMART |
|
ANK
|
568 |
597 |
1.88e-5 |
SMART |
|
ANK
|
601 |
630 |
1.02e-6 |
SMART |
|
ANK
|
634 |
663 |
7.64e-6 |
SMART |
|
ANK
|
667 |
698 |
3.23e-4 |
SMART |
|
ANK
|
700 |
729 |
1.38e-3 |
SMART |
|
ANK
|
733 |
762 |
1.58e-7 |
SMART |
|
ANK
|
766 |
795 |
2.85e-5 |
SMART |
|
ZU5
|
952 |
1056 |
1.9e-60 |
SMART |
|
low complexity region
|
1079 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1416 |
1426 |
N/A |
INTRINSIC |
|
DEATH
|
1434 |
1528 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173248
|
| SMART Domains |
Protein: ENSMUSP00000133322
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
low complexity region
|
1050 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1387 |
1397 |
N/A |
INTRINSIC |
|
DEATH
|
1405 |
1499 |
3.21e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173573
|
| SMART Domains |
Protein: ENSMUSP00000133901
Gene: ENSMUSG00000031543
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
15 |
44 |
2.5e3 |
SMART |
|
ANK
|
48 |
77 |
3.26e0 |
SMART |
|
ANK
|
81 |
110 |
3.15e-7 |
SMART |
|
ANK
|
114 |
143 |
9.05e-8 |
SMART |
|
ANK
|
147 |
175 |
4.67e-1 |
SMART |
|
ANK
|
176 |
205 |
1.42e0 |
SMART |
|
ANK
|
209 |
238 |
4.39e-6 |
SMART |
|
ANK
|
242 |
271 |
1.33e-5 |
SMART |
|
ANK
|
275 |
304 |
7.53e-5 |
SMART |
|
ANK
|
308 |
337 |
2.35e-6 |
SMART |
|
ANK
|
341 |
370 |
6.65e-6 |
SMART |
|
ANK
|
374 |
403 |
5.2e-8 |
SMART |
|
ANK
|
407 |
436 |
8.78e-6 |
SMART |
|
ANK
|
440 |
469 |
7.53e-5 |
SMART |
|
ANK
|
473 |
502 |
5.49e-7 |
SMART |
|
ANK
|
506 |
535 |
2.58e-3 |
SMART |
|
ANK
|
539 |
568 |
1.88e-5 |
SMART |
|
ANK
|
572 |
601 |
1.02e-6 |
SMART |
|
ANK
|
605 |
634 |
7.64e-6 |
SMART |
|
ANK
|
638 |
669 |
3.23e-4 |
SMART |
|
ANK
|
671 |
700 |
1.38e-3 |
SMART |
|
ANK
|
704 |
733 |
1.58e-7 |
SMART |
|
ANK
|
737 |
766 |
2.85e-5 |
SMART |
|
ZU5
|
923 |
1027 |
1.9e-60 |
SMART |
|
| Meta Mutation Damage Score |
0.0799 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly decreased number of gastrin-producing (G) cells in the stomach antrum, hypogastrinemia, and increased stomach luminal pH, with a corresponding increase in antral somatostatin-producing (D) cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
| Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,399,541 (GRCm39) |
T633A |
probably benign |
Het |
| Arhgef19 |
A |
G |
4: 140,983,645 (GRCm39) |
Y726C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| B3galnt2 |
A |
G |
13: 14,141,039 (GRCm39) |
Q87R |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,197,390 (GRCm39) |
S1349P |
probably benign |
Het |
| Cfap52 |
C |
A |
11: 67,821,691 (GRCm39) |
V446L |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,945 (GRCm39) |
N469D |
probably benign |
Het |
| Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,676,826 (GRCm39) |
Y792H |
probably damaging |
Het |
| Dusp13b |
T |
A |
14: 21,790,175 (GRCm39) |
D57V |
probably damaging |
Het |
| Galnt6 |
A |
G |
15: 100,595,049 (GRCm39) |
V484A |
possibly damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv4-79 |
A |
G |
6: 69,020,229 (GRCm39) |
S29P |
possibly damaging |
Het |
| Lamp5 |
G |
A |
2: 135,902,928 (GRCm39) |
D216N |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Ncam2 |
G |
A |
16: 81,386,612 (GRCm39) |
V664M |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,231,554 (GRCm39) |
M41T |
probably benign |
Het |
| Ntng2 |
A |
G |
2: 29,097,547 (GRCm39) |
C305R |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,591,100 (GRCm39) |
K192E |
probably damaging |
Het |
| Omd |
A |
T |
13: 49,743,213 (GRCm39) |
I88F |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Pi4k2a |
G |
A |
19: 42,104,338 (GRCm39) |
A367T |
probably damaging |
Het |
| Pramel30 |
A |
C |
4: 144,058,238 (GRCm39) |
M282L |
probably benign |
Het |
| Prph2 |
T |
C |
17: 47,221,644 (GRCm39) |
F8L |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
| Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Vmn1r124 |
A |
G |
7: 20,994,448 (GRCm39) |
V32A |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,567,178 (GRCm39) |
S921T |
possibly damaging |
Het |
|
| Other mutations in Nkx6-3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0138:Nkx6-3
|
UTSW |
8 |
23,643,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0360:Nkx6-3
|
UTSW |
8 |
23,647,722 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0364:Nkx6-3
|
UTSW |
8 |
23,647,722 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4724:Nkx6-3
|
UTSW |
8 |
23,646,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Nkx6-3
|
UTSW |
8 |
23,643,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4969:Nkx6-3
|
UTSW |
8 |
23,647,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Nkx6-3
|
UTSW |
8 |
23,643,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Nkx6-3
|
UTSW |
8 |
23,643,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6262:Nkx6-3
|
UTSW |
8 |
23,643,863 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6894:Nkx6-3
|
UTSW |
8 |
23,647,632 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7440:Nkx6-3
|
UTSW |
8 |
23,643,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Nkx6-3
|
UTSW |
8 |
23,643,707 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8841:Nkx6-3
|
UTSW |
8 |
23,646,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9439:Nkx6-3
|
UTSW |
8 |
23,643,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATTCTCCAAACCTGTCATGAG -3'
(R):5'- TCGGGTACTCATTTCCAGCC -3'
Sequencing Primer
(F):5'- ACCATTTGAAGTGCTGGCC -3'
(R):5'- GCCTTGGAAAAGCTCCCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation