Incidental Mutation 'R2991:Nkx6-1'
| ID |
257900 |
| 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 # |
R2991 (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 C
at 101807401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 327
(Y327C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044125]
|
| AlphaFold |
Q99MA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044125
AA Change: Y327C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: Y327C
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
| Asic2 |
C |
A |
11: 81,858,863 (GRCm39) |
V50L |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,823,521 (GRCm39) |
M324V |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
| Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
| Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
| Lypd8l |
C |
T |
11: 58,501,516 (GRCm39) |
V156I |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
| Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,347,432 (GRCm39) |
E479G |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,850,195 (GRCm39) |
E220A |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,339,982 (GRCm39) |
E430G |
probably damaging |
Het |
| Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTAGAAAATAGTAAAGGCCCGGC -3'
(R):5'- ACTGACTTTGACGGCTGGAC -3'
Sequencing Primer
(F):5'- GCGAGCAGCCAGGATAC -3'
(R):5'- GGTCTTCCGGCGCTCAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation