Incidental Mutation 'R3924:Onecut2'
| ID |
307109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Onecut2
|
| Ensembl Gene |
ENSMUSG00000045991 |
| Gene Name |
one cut domain, family member 2 |
| Synonyms |
OC-2, Oc2 |
| MMRRC Submission |
040915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.765)
|
| Stock # |
R3924 (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 |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,073,778 (GRCm39) |
L781P |
probably damaging |
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 |
| Csad |
T |
C |
15: 102,086,991 (GRCm39) |
S427G |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
| Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,098 (GRCm39) |
R165G |
possibly damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Fa2h |
A |
G |
8: 112,120,147 (GRCm39) |
Y80H |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
| Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
| Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
| Sipa1 |
G |
A |
19: 5,710,407 (GRCm39) |
T201I |
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
probably benign |
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 |
|
R3925: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