Incidental Mutation 'IGL02704:Onecut1'
| ID |
304264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Onecut1
|
| Ensembl Gene |
ENSMUSG00000043013 |
| Gene Name |
one cut domain, family member 1 |
| Synonyms |
Hfh12, Oc1, OC-1, D9Ertd423e, Hnf6, HNF6 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
IGL02704
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
74769203-74796930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74770312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 245
(N245S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056006]
|
| AlphaFold |
O08755 |
| PDB Structure |
Solution structure of HNF-6 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056006
AA Change: N245S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: N245S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
253 |
N/A |
INTRINSIC |
|
CUT
|
284 |
369 |
2.04e-43 |
SMART |
|
HOX
|
385 |
447 |
1.33e-13 |
SMART |
|
low complexity region
|
448 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161862
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene results in partial postnatal lethality, billiary tract, pancreas, and islet of Langerhans abnormalities, growth retardation, and glucose and insulin metabolism defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
G |
T |
2: 93,673,271 (GRCm39) |
P162Q |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,616,368 (GRCm39) |
N291S |
possibly damaging |
Het |
| Ankar |
T |
C |
1: 72,691,502 (GRCm39) |
D935G |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,070,080 (GRCm39) |
C935* |
probably null |
Het |
| Bivm |
A |
T |
1: 44,165,606 (GRCm39) |
T19S |
probably benign |
Het |
| Ddah2 |
C |
A |
17: 35,279,983 (GRCm39) |
D158E |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,181,293 (GRCm39) |
T1060I |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,733,297 (GRCm39) |
T525A |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,322,263 (GRCm39) |
M604T |
probably benign |
Het |
| Frmpd1 |
T |
G |
4: 45,285,082 (GRCm39) |
I1301S |
possibly damaging |
Het |
| Gm5269 |
T |
C |
1: 45,929,235 (GRCm39) |
T2A |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,784,686 (GRCm39) |
|
probably benign |
Het |
| Hpgds |
A |
T |
6: 65,100,621 (GRCm39) |
L119* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,874,576 (GRCm39) |
D750G |
probably damaging |
Het |
| Ift43 |
T |
A |
12: 86,207,951 (GRCm39) |
D106E |
probably benign |
Het |
| Iqub |
T |
A |
6: 24,505,909 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,368,466 (GRCm39) |
K1199E |
probably benign |
Het |
| Mast3 |
T |
A |
8: 71,239,519 (GRCm39) |
I395F |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,059,207 (GRCm39) |
S2236P |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,256 (GRCm39) |
V6E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,000 (GRCm39) |
T479S |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,014 (GRCm39) |
T1623A |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,491,948 (GRCm39) |
L283P |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,483 (GRCm38) |
I200V |
probably benign |
Het |
| Or4k41 |
A |
T |
2: 111,279,492 (GRCm39) |
E2D |
probably benign |
Het |
| Or8b52 |
G |
A |
9: 38,577,063 (GRCm39) |
P26S |
possibly damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,579 (GRCm39) |
V284A |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,621 (GRCm39) |
Q89R |
probably benign |
Het |
| Pkd1l1 |
A |
G |
11: 8,784,910 (GRCm39) |
V1958A |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,511,011 (GRCm39) |
A1292V |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,489,592 (GRCm39) |
E223G |
probably damaging |
Het |
| Pou1f1 |
A |
T |
16: 65,326,685 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Rbm25 |
G |
A |
12: 83,689,500 (GRCm39) |
G47D |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,905,943 (GRCm39) |
E712G |
possibly damaging |
Het |
| Snx24 |
A |
G |
18: 53,460,509 (GRCm39) |
N29S |
probably benign |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,597,985 (GRCm39) |
N19643H |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,178,772 (GRCm39) |
T646A |
probably benign |
Het |
|
| Other mutations in Onecut1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01928:Onecut1
|
APN |
9 |
74,796,815 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Whittle
|
UTSW |
9 |
74,770,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Onecut1
|
UTSW |
9 |
74,769,973 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5407:Onecut1
|
UTSW |
9 |
74,796,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Onecut1
|
UTSW |
9 |
74,770,614 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5785:Onecut1
|
UTSW |
9 |
74,770,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Onecut1
|
UTSW |
9 |
74,770,042 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5928:Onecut1
|
UTSW |
9 |
74,770,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6426:Onecut1
|
UTSW |
9 |
74,769,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6495:Onecut1
|
UTSW |
9 |
74,770,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Onecut1
|
UTSW |
9 |
74,770,522 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9655:Onecut1
|
UTSW |
9 |
74,770,330 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9704:Onecut1
|
UTSW |
9 |
74,770,258 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0004:Onecut1
|
UTSW |
9 |
74,769,964 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2015-04-16 |
Incidental Mutation