Incidental Mutation 'R6426:Onecut1'
ID |
518328 |
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 |
044565-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.884)
|
Stock # |
R6426 (G1)
|
Quality Score |
157.22 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
74769203-74796930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74769631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 18
(H18R)
|
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: H18R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058020 Gene: ENSMUSG00000043013 AA Change: H18R
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: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
Validation Efficiency |
100% (34/34) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
Sdhb |
A |
G |
4: 140,701,029 (GRCm39) |
K162E |
probably benign |
Het |
Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
probably damaging |
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 |
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 |
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'- ATCCCCACAGTGAGAGGAAG -3'
(R):5'- AGTTTCACAGGCCATGGTC -3'
Sequencing Primer
(F):5'- AGAAAGGCCACAGTCGC -3'
(R):5'- AGCCAAGCTGTGCTCAG -3'
|
Posted On |
2018-05-24 |