Incidental Mutation 'R4134:Nkx6-1'
| ID |
314804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkx6-1
|
| Ensembl Gene |
ENSMUSG00000035187 |
| Gene Name |
NK6 homeobox 1 |
| Synonyms |
NKX6A, Nkx6.1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
101807050-101812577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101807371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 337
(D337V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044125]
|
| AlphaFold |
Q99MA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044125
AA Change: D337V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: D337V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
181 |
N/A |
INTRINSIC |
|
HOX
|
235 |
299 |
9.56e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.1113 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, abnormal neuron specification, decreased motor neuron number, and reduced pancreatic beta cell number and insulin secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ces1g |
T |
C |
8: 94,046,500 (GRCm39) |
T342A |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,521,107 (GRCm39) |
V977A |
probably benign |
Het |
| Cnot11 |
T |
C |
1: 39,576,629 (GRCm39) |
V211A |
probably benign |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
| F2 |
T |
C |
2: 91,459,553 (GRCm39) |
D410G |
possibly damaging |
Het |
| Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,715,430 (GRCm39) |
W38R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,283,968 (GRCm39) |
Q3446L |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,897,296 (GRCm39) |
G1454V |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,513,740 (GRCm39) |
S534P |
probably benign |
Het |
| Npm2 |
C |
T |
14: 70,885,822 (GRCm39) |
E128K |
possibly damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,908 (GRCm39) |
D310G |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
| Pum1 |
A |
T |
4: 130,491,380 (GRCm39) |
I770F |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
| Syt9 |
A |
G |
7: 107,035,630 (GRCm39) |
S216G |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,082,317 (GRCm39) |
H1120Y |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,715,138 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,705 (GRCm39) |
D252G |
probably benign |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,302,600 (GRCm39) |
P1795S |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,308,687 (GRCm39) |
S638P |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,043 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Nkx6-1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Nkx6-1
|
APN |
5 |
101,807,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01670:Nkx6-1
|
APN |
5 |
101,809,806 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2991:Nkx6-1
|
UTSW |
5 |
101,807,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4135:Nkx6-1
|
UTSW |
5 |
101,807,371 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5439:Nkx6-1
|
UTSW |
5 |
101,809,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5511:Nkx6-1
|
UTSW |
5 |
101,811,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Nkx6-1
|
UTSW |
5 |
101,811,847 (GRCm39) |
missense |
unknown |
|
|
R6406:Nkx6-1
|
UTSW |
5 |
101,811,677 (GRCm39) |
missense |
unknown |
|
|
R6463:Nkx6-1
|
UTSW |
5 |
101,807,342 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7261:Nkx6-1
|
UTSW |
5 |
101,812,006 (GRCm39) |
missense |
unknown |
|
|
R7795:Nkx6-1
|
UTSW |
5 |
101,811,628 (GRCm39) |
missense |
unknown |
|
|
R7950:Nkx6-1
|
UTSW |
5 |
101,811,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8696:Nkx6-1
|
UTSW |
5 |
101,807,513 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8835:Nkx6-1
|
UTSW |
5 |
101,811,971 (GRCm39) |
missense |
unknown |
|
|
R8998:Nkx6-1
|
UTSW |
5 |
101,812,082 (GRCm39) |
missense |
unknown |
|
|
R8999:Nkx6-1
|
UTSW |
5 |
101,812,082 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTAGAAAATAGTAAAGGCCCGG -3'
(R):5'- ACTGACTTTGACGGCTGGAC -3'
Sequencing Primer
(F):5'- TAGTAAAGGCCCGGCGAGC -3'
(R):5'- GGTCTTCCGGCGCTCAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation