Incidental Mutation 'IGL01928:Onecut1'
ID |
180349 |
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 # |
IGL01928
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
74769203-74796930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 74796815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 445
(Q445K)
|
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 |
possibly damaging
Transcript: ENSMUST00000056006
AA Change: Q445K
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000058020 Gene: ENSMUSG00000043013 AA Change: Q445K
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
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,633,342 (GRCm39) |
T5024S |
probably benign |
Het |
Adam23 |
C |
A |
1: 63,596,605 (GRCm39) |
N562K |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,103,630 (GRCm39) |
M503I |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
Erich6 |
T |
C |
3: 58,528,692 (GRCm39) |
I519M |
probably damaging |
Het |
Fscn3 |
A |
G |
6: 28,430,181 (GRCm39) |
E117G |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm45234 |
A |
G |
6: 124,721,967 (GRCm39) |
|
probably benign |
Het |
Ighv1-47 |
T |
A |
12: 114,954,913 (GRCm39) |
M56L |
probably benign |
Het |
Klf4 |
A |
G |
4: 55,530,949 (GRCm39) |
L45P |
probably benign |
Het |
Ksr1 |
A |
C |
11: 78,935,665 (GRCm39) |
|
probably null |
Het |
L3mbtl3 |
T |
C |
10: 26,206,143 (GRCm39) |
N341S |
unknown |
Het |
Mfsd12 |
T |
C |
10: 81,201,622 (GRCm39) |
|
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,074,847 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
T |
A |
13: 58,994,665 (GRCm39) |
C194S |
probably damaging |
Het |
Olfm4 |
G |
A |
14: 80,249,392 (GRCm39) |
V170I |
possibly damaging |
Het |
Or8g22 |
A |
C |
9: 38,958,709 (GRCm39) |
D46E |
unknown |
Het |
Pak6 |
A |
G |
2: 118,520,345 (GRCm39) |
Q112R |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
C |
T |
3: 79,011,270 (GRCm39) |
E124K |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,263,565 (GRCm39) |
T893A |
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
C |
3: 99,847,390 (GRCm39) |
|
probably benign |
Het |
Tgds |
T |
C |
14: 118,353,541 (GRCm39) |
T259A |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h12a |
A |
G |
4: 125,013,779 (GRCm39) |
S362P |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,641,006 (GRCm39) |
I1246T |
probably damaging |
Het |
|
Other mutations in Onecut1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02704:Onecut1
|
APN |
9 |
74,770,312 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |