Incidental Mutation 'R5165:Nkx6-3'
| ID |
395652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkx6-3
|
| Ensembl Gene |
ENSMUSG00000063672 |
| Gene Name |
NK6 homeobox 3 |
| Synonyms |
9130417I07Rik, Nkx6.3 |
| MMRRC Submission |
042746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23643287-23648964 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23643759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 53
(H53Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071588]
[ENSMUST00000084038]
[ENSMUST00000110688]
[ENSMUST00000117296]
[ENSMUST00000117662]
[ENSMUST00000118733]
[ENSMUST00000121075]
[ENSMUST00000121802]
[ENSMUST00000123418]
[ENSMUST00000141784]
[ENSMUST00000173573]
[ENSMUST00000173248]
|
| AlphaFold |
Q3UHX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071588
AA Change: H53Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071517
Gene: ENSMUSG00000063672
AA Change: H53Q
| 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: 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: 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
T |
A |
6: 83,503,814 (GRCm39) |
I77F |
probably benign |
Het |
| Actl6a |
G |
A |
3: 32,774,357 (GRCm39) |
V285I |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,457,190 (GRCm39) |
I646N |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,029 (GRCm39) |
I4771T |
possibly damaging |
Het |
| Alas1 |
T |
C |
9: 106,118,454 (GRCm39) |
T223A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,151,684 (GRCm39) |
E2246G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,105 (GRCm39) |
I795T |
probably benign |
Het |
| Ccn3 |
A |
G |
15: 54,612,585 (GRCm39) |
D198G |
probably damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,874,829 (GRCm39) |
L633P |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,804,114 (GRCm39) |
S990P |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,526,789 (GRCm39) |
I66V |
possibly damaging |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,504 (GRCm39) |
S170P |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,059,908 (GRCm39) |
N353S |
possibly damaging |
Het |
| Dapp1 |
T |
C |
3: 137,644,976 (GRCm39) |
|
probably null |
Het |
| Dmwd |
G |
A |
7: 18,811,960 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,080 (GRCm39) |
H516R |
probably damaging |
Het |
| Efemp2 |
T |
C |
19: 5,525,439 (GRCm39) |
C39R |
probably damaging |
Het |
| Fnbp4 |
C |
G |
2: 90,608,001 (GRCm39) |
Q908E |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,840,212 (GRCm39) |
V26A |
probably damaging |
Het |
| Gkap1 |
A |
G |
13: 58,411,010 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
C |
3: 132,790,440 (GRCm39) |
V109G |
probably damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnj9 |
A |
T |
1: 172,150,724 (GRCm39) |
D296E |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,998,395 (GRCm39) |
Y68C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,886,410 (GRCm39) |
I66T |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,735,857 (GRCm39) |
S692P |
probably benign |
Het |
| Lrrc10 |
A |
T |
10: 116,881,965 (GRCm39) |
N213I |
probably benign |
Het |
| Nceh1 |
G |
A |
3: 27,295,677 (GRCm39) |
V313I |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,550,092 (GRCm39) |
I53T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,235,252 (GRCm39) |
D265G |
probably benign |
Het |
| Or2y16 |
A |
G |
11: 49,335,203 (GRCm39) |
H175R |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,568 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,564 (GRCm39) |
N193K |
probably benign |
Het |
| Oxct1 |
A |
T |
15: 4,083,251 (GRCm39) |
T157S |
possibly damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,723 (GRCm39) |
E392G |
possibly damaging |
Het |
| Polr1a |
T |
G |
6: 71,944,909 (GRCm39) |
Y1322D |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,496,136 (GRCm39) |
S776T |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
| Sertad4 |
A |
T |
1: 192,529,130 (GRCm39) |
S229T |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,963,373 (GRCm39) |
V327D |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,722,865 (GRCm39) |
V904E |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,907,953 (GRCm39) |
Y197N |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,736,077 (GRCm39) |
L23Q |
unknown |
Het |
| Snx29 |
T |
A |
16: 11,238,639 (GRCm39) |
M23K |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,881,761 (GRCm39) |
S366P |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,447,592 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
C |
5: 120,696,010 (GRCm39) |
E81G |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,060 (GRCm39) |
Q26R |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,606,900 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,873,293 (GRCm39) |
D450E |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,848,201 (GRCm39) |
Y132* |
probably null |
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 |
|
R3954:Nkx6-3
|
UTSW |
8 |
23,643,742 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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'- TTTAAGGGTTCCTGGACCAC -3'
(R):5'- ACTCACTGTTGCTGCATGGC -3'
Sequencing Primer
(F):5'- GGTTCCTGGACCACCGATTC -3'
(R):5'- CAGTCCTGGCCTGTGTCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation