Incidental Mutation 'R9439:Nkx6-3'
ID |
713440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nkx6-3
|
Ensembl Gene |
ENSMUSG00000063672 |
Gene Name |
NK6 homeobox 3 |
Synonyms |
9130417I07Rik, Nkx6.3 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R9439 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
23643287-23648964 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23643778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 60
(S60G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071588]
[ENSMUST00000084038]
[ENSMUST00000110688]
[ENSMUST00000117296]
[ENSMUST00000117662]
[ENSMUST00000118733]
[ENSMUST00000121075]
[ENSMUST00000121802]
[ENSMUST00000123418]
[ENSMUST00000141784]
[ENSMUST00000173248]
[ENSMUST00000173573]
|
AlphaFold |
Q3UHX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071588
AA Change: S60G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000071517 Gene: ENSMUSG00000063672 AA Change: S60G
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 |
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,772,048 (GRCm39) |
E412D |
probably benign |
Het |
Aak1 |
T |
A |
6: 86,933,274 (GRCm39) |
V415D |
probably damaging |
Het |
Ache |
A |
C |
5: 137,289,185 (GRCm39) |
D297A |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,084,687 (GRCm39) |
I4T |
possibly damaging |
Het |
Atp8b2 |
T |
A |
3: 89,851,492 (GRCm39) |
Y925F |
|
Het |
Avpr1b |
T |
C |
1: 131,528,029 (GRCm39) |
L184P |
probably damaging |
Het |
Cabin1 |
G |
A |
10: 75,581,069 (GRCm39) |
P419L |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,884,597 (GRCm39) |
S1578G |
probably benign |
Het |
Ccnd2 |
A |
T |
6: 127,127,617 (GRCm39) |
C40* |
probably null |
Het |
Col6a3 |
A |
T |
1: 90,744,155 (GRCm39) |
I471N |
probably damaging |
Het |
Cp |
A |
G |
3: 20,046,671 (GRCm39) |
|
probably null |
Het |
Cyfip2 |
C |
T |
11: 46,091,668 (GRCm39) |
R1084Q |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,412 (GRCm39) |
|
probably null |
Het |
Dnah6 |
T |
C |
6: 73,012,330 (GRCm39) |
N3713S |
possibly damaging |
Het |
Dot1l |
G |
T |
10: 80,621,438 (GRCm39) |
R633L |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,715,030 (GRCm39) |
M809K |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,803,436 (GRCm39) |
A1680E |
possibly damaging |
Het |
Flt1 |
A |
G |
5: 147,515,207 (GRCm39) |
F1072L |
probably damaging |
Het |
Gm19410 |
G |
T |
8: 36,248,810 (GRCm39) |
A549S |
probably damaging |
Het |
Gm57859 |
C |
T |
11: 113,583,229 (GRCm39) |
Q519* |
probably null |
Het |
Gnat1 |
A |
T |
9: 107,553,511 (GRCm39) |
I249N |
|
Het |
Gp2 |
T |
C |
7: 119,053,433 (GRCm39) |
Y176C |
probably damaging |
Het |
Gpc2 |
G |
T |
5: 138,277,248 (GRCm39) |
Q60K |
probably benign |
Het |
Gpsm2 |
T |
A |
3: 108,610,397 (GRCm39) |
E21V |
probably damaging |
Het |
Igkv4-80 |
T |
A |
6: 68,993,793 (GRCm39) |
M33L |
probably benign |
Het |
Il20ra |
C |
A |
10: 19,618,751 (GRCm39) |
H66Q |
probably benign |
Het |
Kap |
C |
T |
6: 133,828,950 (GRCm39) |
D61N |
probably benign |
Het |
Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,461,692 (GRCm39) |
Y60* |
probably null |
Het |
Neil1 |
T |
A |
9: 57,051,098 (GRCm39) |
R294* |
probably null |
Het |
Noc2l |
T |
A |
4: 156,326,130 (GRCm39) |
S406T |
possibly damaging |
Het |
Or11m3 |
T |
C |
15: 98,396,247 (GRCm39) |
V298A |
possibly damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,825 (GRCm39) |
I163T |
probably benign |
Het |
Or2h2c |
A |
G |
17: 37,422,205 (GRCm39) |
V223A |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,104 (GRCm39) |
C145R |
probably benign |
Het |
Or51ac3 |
T |
G |
7: 103,214,049 (GRCm39) |
I146L |
probably benign |
Het |
Or5p81 |
T |
C |
7: 108,266,626 (GRCm39) |
M1T |
probably null |
Het |
Paqr4 |
A |
G |
17: 23,958,939 (GRCm39) |
F21L |
probably damaging |
Het |
Pcdha9 |
A |
G |
18: 37,131,527 (GRCm39) |
T199A |
probably benign |
Het |
Pcdhgb7 |
T |
C |
18: 37,884,917 (GRCm39) |
L29P |
probably benign |
Het |
Pfkl |
G |
A |
10: 77,831,172 (GRCm39) |
A323V |
probably damaging |
Het |
Pik3r4 |
C |
A |
9: 105,528,041 (GRCm39) |
P465T |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,274,189 (GRCm39) |
S307P |
probably damaging |
Het |
Pitpnm2 |
A |
G |
5: 124,278,659 (GRCm39) |
Y191H |
probably damaging |
Het |
Plod3 |
G |
A |
5: 137,023,036 (GRCm39) |
V613I |
probably benign |
Het |
Prr23a2 |
C |
T |
9: 98,738,921 (GRCm39) |
T93I |
probably damaging |
Het |
Ptk6 |
T |
A |
2: 180,840,206 (GRCm39) |
M267L |
possibly damaging |
Het |
Rabl6 |
C |
T |
2: 25,492,432 (GRCm39) |
|
probably null |
Het |
Ralgapa2 |
T |
C |
2: 146,254,058 (GRCm39) |
H787R |
probably benign |
Het |
Rfx8 |
T |
G |
1: 39,724,669 (GRCm39) |
M231L |
probably benign |
Het |
Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
Smpd4 |
A |
G |
16: 17,459,451 (GRCm39) |
I625V |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,765,740 (GRCm39) |
S66P |
probably damaging |
Het |
Tsc22d1 |
G |
A |
14: 76,743,899 (GRCm39) |
V1007M |
probably damaging |
Het |
Tspoap1 |
C |
T |
11: 87,665,535 (GRCm39) |
R758C |
probably damaging |
Het |
Vmn1r210 |
A |
C |
13: 23,011,397 (GRCm39) |
H296Q |
possibly damaging |
Het |
Zfp532 |
G |
A |
18: 65,818,714 (GRCm39) |
V857I |
probably benign |
Het |
Zfyve9 |
T |
C |
4: 108,501,538 (GRCm39) |
T593A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACCATGGAGTCCAACCTG -3'
(R):5'- GAAGGCCCTGTACTCACTGTTG -3'
Sequencing Primer
(F):5'- ATGGAGTCCAACCTGCAGGG -3'
(R):5'- ACTCACTGTTGCTGCATGG -3'
|
Posted On |
2022-05-16 |