Incidental Mutation 'IGL00232:Nkx6-1'
ID |
2404 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00232
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
101807050-101812577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101807371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 337
(D337G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044125]
|
AlphaFold |
Q99MA9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044125
AA Change: D337G
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042716 Gene: ENSMUSG00000035187 AA Change: D337G
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 |
|
Coding Region Coverage |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,950,581 (GRCm39) |
Q1493K |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,487,050 (GRCm39) |
|
probably benign |
Het |
Armc8 |
T |
C |
9: 99,387,787 (GRCm39) |
|
probably null |
Het |
Asz1 |
T |
G |
6: 18,055,541 (GRCm39) |
|
probably null |
Het |
Atp6v0a4 |
G |
A |
6: 38,069,725 (GRCm39) |
R56* |
probably null |
Het |
Bend6 |
T |
C |
1: 33,922,619 (GRCm39) |
D8G |
possibly damaging |
Het |
Ccdc171 |
T |
A |
4: 83,600,561 (GRCm39) |
C870* |
probably null |
Het |
Cd163 |
A |
G |
6: 124,306,060 (GRCm39) |
|
probably benign |
Het |
Chd2 |
A |
G |
7: 73,118,325 (GRCm39) |
S1098P |
probably damaging |
Het |
Col6a5 |
T |
G |
9: 105,759,882 (GRCm39) |
D1946A |
probably damaging |
Het |
Gm6576 |
T |
A |
15: 27,025,884 (GRCm39) |
|
noncoding transcript |
Het |
Gypa |
T |
G |
8: 81,231,408 (GRCm39) |
|
probably benign |
Het |
Ighv9-3 |
T |
C |
12: 114,104,691 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
T |
G |
8: 129,440,399 (GRCm39) |
|
probably benign |
Het |
Kctd15 |
A |
T |
7: 34,350,170 (GRCm39) |
|
probably null |
Het |
Krtap13 |
A |
C |
16: 88,548,423 (GRCm39) |
S22A |
possibly damaging |
Het |
Masp1 |
C |
T |
16: 23,276,841 (GRCm39) |
E555K |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,862,136 (GRCm39) |
S360T |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mfsd13a |
A |
G |
19: 46,354,958 (GRCm39) |
Y45C |
probably damaging |
Het |
Neb |
T |
C |
2: 52,125,568 (GRCm39) |
D3662G |
possibly damaging |
Het |
Nlrc5 |
T |
C |
8: 95,211,251 (GRCm39) |
|
probably null |
Het |
Palb2 |
T |
C |
7: 121,720,287 (GRCm39) |
H468R |
probably damaging |
Het |
Plscr1l1 |
C |
T |
9: 92,233,005 (GRCm39) |
R43* |
probably null |
Het |
Rai1 |
T |
G |
11: 60,076,217 (GRCm39) |
Y94D |
probably damaging |
Het |
Slc27a3 |
A |
T |
3: 90,292,748 (GRCm39) |
Y605* |
probably null |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,670,951 (GRCm39) |
E677G |
possibly damaging |
Het |
Tstd2 |
A |
T |
4: 46,120,002 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
C |
3: 141,494,701 (GRCm39) |
I412T |
probably damaging |
Het |
|
Other mutations in Nkx6-1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4134:Nkx6-1
|
UTSW |
5 |
101,807,371 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
|
Posted On |
2011-12-09 |