Incidental Mutation 'R5785:Onecut1'
| ID |
447967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Onecut1
|
| Ensembl Gene |
ENSMUSG00000043013 |
| Gene Name |
one cut domain, family member 1 |
| Synonyms |
Hfh12, Oc1, OC-1, D9Ertd423e, Hnf6, HNF6 |
| MMRRC Submission |
043206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R5785 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
74769203-74796930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74770674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 366
(R366C)
|
| 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: R366C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058020
Gene: ENSMUSG00000043013
AA Change: R366C
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
T |
9: 99,502,725 (GRCm39) |
N295I |
probably damaging |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,216,922 (GRCm39) |
D254Y |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,618 (GRCm39) |
M328V |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,440,325 (GRCm39) |
V143D |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,996 (GRCm39) |
D493G |
probably damaging |
Het |
| Cers4 |
T |
A |
8: 4,566,992 (GRCm39) |
|
probably null |
Het |
| Clec4d |
A |
G |
6: 123,251,729 (GRCm39) |
R204G |
probably benign |
Het |
| Cngb1 |
C |
A |
8: 95,980,823 (GRCm39) |
R910L |
possibly damaging |
Het |
| Coro2a |
A |
T |
4: 46,564,691 (GRCm39) |
N18K |
probably benign |
Het |
| Cwf19l1 |
A |
G |
19: 44,110,380 (GRCm39) |
F290S |
probably damaging |
Het |
| Esp18 |
C |
T |
17: 39,720,839 (GRCm39) |
T28I |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,011,148 (GRCm39) |
F205Y |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,724,821 (GRCm39) |
H317L |
possibly damaging |
Het |
| Il36b |
G |
A |
2: 24,044,661 (GRCm39) |
M20I |
probably benign |
Het |
| Ilf3 |
T |
A |
9: 21,306,168 (GRCm39) |
N276K |
probably damaging |
Het |
| Jchain |
T |
C |
5: 88,670,376 (GRCm39) |
N81S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,907,600 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,339,904 (GRCm39) |
E20V |
possibly damaging |
Het |
| Ndufa10 |
A |
G |
1: 92,388,096 (GRCm39) |
|
probably null |
Het |
| Nodal |
A |
G |
10: 61,259,456 (GRCm39) |
T298A |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,966,863 (GRCm39) |
Y47C |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,804,983 (GRCm39) |
Y259C |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ppp5c |
A |
G |
7: 16,761,616 (GRCm39) |
|
probably null |
Het |
| Prag1 |
A |
G |
8: 36,570,641 (GRCm39) |
E408G |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,648,809 (GRCm39) |
N949S |
probably damaging |
Het |
| Scn7a |
A |
C |
2: 66,527,912 (GRCm39) |
N859K |
possibly damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,322 (GRCm39) |
I1362T |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,501,022 (GRCm39) |
R343G |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,200,727 (GRCm39) |
S587P |
probably benign |
Het |
| Trim80 |
C |
T |
11: 115,337,301 (GRCm39) |
Q388* |
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,818,861 (GRCm39) |
|
probably null |
Het |
| Vmn2r130 |
T |
A |
17: 23,280,461 (GRCm39) |
S41T |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,444 (GRCm39) |
T896S |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,340,006 (GRCm39) |
E749G |
probably damaging |
Het |
| Zbtb24 |
G |
A |
10: 41,327,849 (GRCm39) |
G245E |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,487,167 (GRCm39) |
V767A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTTACAGCATCCCACAGG -3'
(R):5'- AAACCTTGCAGCTCTGTCCC -3'
Sequencing Primer
(F):5'- ATCCCACAGGCCATCTTCG -3'
(R):5'- AGGCCACCTTGTTCGGTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation