Incidental Mutation 'R3925:Onecut2'
| ID |
308256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Onecut2
|
| Ensembl Gene |
ENSMUSG00000045991 |
| Gene Name |
one cut domain, family member 2 |
| Synonyms |
OC-2, Oc2 |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
64473098-64531559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64474591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 381
(K381E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115145]
[ENSMUST00000175965]
|
| AlphaFold |
Q6XBJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115145
AA Change: K381E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: K381E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
323 |
N/A |
INTRINSIC |
|
CUT
|
326 |
411 |
1e-42 |
SMART |
|
HOX
|
427 |
489 |
2.63e-12 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175965
AA Change: K362E
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: K362E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
CUT
|
307 |
392 |
1e-42 |
SMART |
|
HOX
|
408 |
470 |
2.63e-12 |
SMART |
|
low complexity region
|
472 |
482 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7100 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| 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 onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in abnormal bile duct development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
probably damaging |
Het |
|
| Other mutations in Onecut2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Onecut2
|
APN |
18 |
64,474,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01712:Onecut2
|
APN |
18 |
64,519,673 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01925:Onecut2
|
APN |
18 |
64,474,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Onecut2
|
APN |
18 |
64,474,579 (GRCm39) |
nonsense |
probably null |
|
|
R0197:Onecut2
|
UTSW |
18 |
64,474,543 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0504:Onecut2
|
UTSW |
18 |
64,473,820 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1514:Onecut2
|
UTSW |
18 |
64,474,651 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2314:Onecut2
|
UTSW |
18 |
64,474,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3923:Onecut2
|
UTSW |
18 |
64,474,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3924:Onecut2
|
UTSW |
18 |
64,474,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4888:Onecut2
|
UTSW |
18 |
64,473,998 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5818:Onecut2
|
UTSW |
18 |
64,474,046 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5995:Onecut2
|
UTSW |
18 |
64,474,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7132:Onecut2
|
UTSW |
18 |
64,473,983 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7232:Onecut2
|
UTSW |
18 |
64,474,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Onecut2
|
UTSW |
18 |
64,519,511 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7631:Onecut2
|
UTSW |
18 |
64,474,046 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7887:Onecut2
|
UTSW |
18 |
64,474,046 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7891:Onecut2
|
UTSW |
18 |
64,474,046 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7900:Onecut2
|
UTSW |
18 |
64,474,658 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8176:Onecut2
|
UTSW |
18 |
64,473,931 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9189:Onecut2
|
UTSW |
18 |
64,473,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Onecut2
|
UTSW |
18 |
64,474,378 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGCTTACACCACCCTGG -3'
(R):5'- ACTGGCAATGAAAACTCAGAGTC -3'
Sequencing Primer
(F):5'- CTCCTCGGGTTCTCAGGTG -3'
(R):5'- AACTCAGAGTCAAGGAGTGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation