Incidental Mutation 'R4656:Ofcc1'
| ID |
352462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
041916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4656 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
40155358-40514926 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40168864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 841
(T841I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054635]
[ENSMUST00000224909]
|
| AlphaFold |
Q8BGX4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054635
AA Change: T841I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: T841I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OFCC1
|
5 |
113 |
1.3e-57 |
PFAM |
|
transmembrane domain
|
575 |
592 |
N/A |
INTRINSIC |
|
transmembrane domain
|
599 |
618 |
N/A |
INTRINSIC |
|
transmembrane domain
|
633 |
655 |
N/A |
INTRINSIC |
|
transmembrane domain
|
667 |
689 |
N/A |
INTRINSIC |
|
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224909
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (80/83) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal skull morphology and normal behavior with in increase in gamma-glutamyl transpeptidase. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
G |
A |
5: 88,112,534 (GRCm39) |
|
probably benign |
Het |
| 4931406B18Rik |
T |
A |
7: 43,150,565 (GRCm39) |
H69L |
probably benign |
Het |
| Ace2 |
T |
C |
X: 162,936,110 (GRCm39) |
S84P |
probably benign |
Het |
| Adgb |
A |
C |
10: 10,281,050 (GRCm39) |
N656K |
probably damaging |
Het |
| Ago3 |
G |
T |
4: 126,257,545 (GRCm39) |
Y495* |
probably null |
Het |
| Ahnak |
G |
A |
19: 8,982,219 (GRCm39) |
V1168M |
possibly damaging |
Het |
| Armc10 |
A |
G |
5: 21,866,548 (GRCm39) |
R271G |
probably benign |
Het |
| Atp4a |
T |
G |
7: 30,419,373 (GRCm39) |
|
probably benign |
Het |
| Casp1 |
C |
T |
9: 5,304,324 (GRCm39) |
P333S |
probably damaging |
Het |
| Ceacam9 |
C |
T |
7: 16,457,574 (GRCm39) |
A34V |
probably benign |
Het |
| Ces1b |
C |
G |
8: 93,784,042 (GRCm39) |
E488Q |
probably damaging |
Het |
| Ces2h |
A |
T |
8: 105,741,271 (GRCm39) |
T88S |
possibly damaging |
Het |
| Cfap410 |
G |
A |
10: 77,817,450 (GRCm39) |
R59H |
probably benign |
Het |
| Col2a1 |
C |
T |
15: 97,874,057 (GRCm39) |
G1375D |
unknown |
Het |
| Cyp1a1 |
T |
C |
9: 57,609,893 (GRCm39) |
F436L |
probably damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,944,624 (GRCm39) |
V269A |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,621,044 (GRCm39) |
L592P |
probably damaging |
Het |
| Eda2r |
T |
A |
X: 96,385,239 (GRCm39) |
Q171L |
probably damaging |
Het |
| Egln2 |
A |
G |
7: 26,858,618 (GRCm39) |
V408A |
probably benign |
Het |
| Gabpb2 |
A |
G |
3: 95,096,252 (GRCm39) |
L325P |
probably damaging |
Het |
| Gigyf1 |
C |
A |
5: 137,523,477 (GRCm39) |
Y936* |
probably null |
Het |
| Gm14149 |
A |
T |
2: 151,072,684 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl2 |
C |
T |
4: 124,934,790 (GRCm39) |
Q149* |
probably null |
Het |
| Gpr107 |
C |
T |
2: 31,104,261 (GRCm39) |
T522M |
probably damaging |
Het |
| Grpr |
T |
A |
X: 162,297,992 (GRCm39) |
S351C |
probably damaging |
Het |
| Gsdma |
T |
C |
11: 98,563,907 (GRCm39) |
L287P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,301,993 (GRCm39) |
T652A |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
| Irx2 |
T |
C |
13: 72,779,417 (GRCm39) |
S234P |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,725 (GRCm39) |
D808E |
probably damaging |
Het |
| Krt13 |
C |
A |
11: 100,010,189 (GRCm39) |
R264L |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,071 (GRCm39) |
L38I |
probably benign |
Het |
| Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
| Mif4gd |
G |
T |
11: 115,499,163 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
A |
T |
1: 162,893,593 (GRCm39) |
M194K |
probably damaging |
Het |
| Nhlrc3 |
A |
G |
3: 53,370,501 (GRCm39) |
S22P |
probably damaging |
Het |
| Nipal2 |
A |
T |
15: 34,577,714 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
A |
G |
10: 89,334,115 (GRCm39) |
S78P |
probably benign |
Het |
| Olfr908 |
A |
T |
9: 38,427,852 (GRCm39) |
N175Y |
probably damaging |
Het |
| Or1e30 |
A |
T |
11: 73,678,337 (GRCm39) |
D191V |
probably damaging |
Het |
| Or52d13 |
C |
T |
7: 103,109,695 (GRCm39) |
R235Q |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,385,797 (GRCm39) |
V991A |
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,654,880 (GRCm39) |
|
probably null |
Het |
| Plch1 |
G |
T |
3: 63,611,598 (GRCm39) |
A859E |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,548,202 (GRCm39) |
T68A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,289,244 (GRCm39) |
K84R |
possibly damaging |
Het |
| Rbm14 |
T |
C |
19: 4,861,463 (GRCm39) |
Y25C |
probably damaging |
Het |
| Rmi2 |
A |
G |
16: 10,653,186 (GRCm39) |
D78G |
probably damaging |
Het |
| Serpina3k |
C |
A |
12: 104,311,532 (GRCm39) |
T370K |
probably damaging |
Het |
| Shc2 |
A |
T |
10: 79,457,003 (GRCm39) |
L538M |
probably damaging |
Het |
| Skint1 |
A |
G |
4: 111,878,674 (GRCm39) |
K202R |
probably damaging |
Het |
| Slc22a29 |
C |
A |
19: 8,195,664 (GRCm39) |
S125I |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
A |
T |
1: 96,768,970 (GRCm39) |
D297E |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,350,928 (GRCm39) |
F136S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,812,174 (GRCm39) |
V39E |
probably benign |
Het |
| Spns1 |
G |
T |
7: 125,973,474 (GRCm39) |
|
probably benign |
Het |
| Spsb1 |
A |
G |
4: 149,990,867 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
G |
6: 48,431,010 (GRCm39) |
I631S |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,078,147 (GRCm39) |
L4694P |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,724,844 (GRCm39) |
E325G |
probably benign |
Het |
| Tars1 |
A |
T |
15: 11,394,350 (GRCm39) |
S96T |
probably damaging |
Het |
| Tdrd12 |
T |
C |
7: 35,184,679 (GRCm39) |
K745E |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,746,761 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Trpv3 |
T |
A |
11: 73,186,240 (GRCm39) |
M677K |
probably damaging |
Het |
| Txlnb |
A |
T |
10: 17,691,024 (GRCm39) |
K191N |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,756,494 (GRCm39) |
V711A |
probably benign |
Het |
| Uqcrb |
T |
C |
13: 67,049,603 (GRCm39) |
T41A |
probably benign |
Het |
| Usp6nl |
A |
G |
2: 6,445,973 (GRCm39) |
Y627C |
probably damaging |
Het |
| Vezf1 |
A |
G |
11: 87,965,493 (GRCm39) |
D245G |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,661,204 (GRCm39) |
W9R |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,826,019 (GRCm39) |
|
probably null |
Het |
| Zfy1 |
T |
G |
Y: 729,626 (GRCm39) |
T339P |
unknown |
Het |
|
| Other mutations in Ofcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Ofcc1
|
APN |
13 |
40,296,280 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00489:Ofcc1
|
APN |
13 |
40,433,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01952:Ofcc1
|
APN |
13 |
40,434,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Ofcc1
|
APN |
13 |
40,362,251 (GRCm39) |
missense |
probably benign |
|
|
IGL02619:Ofcc1
|
APN |
13 |
40,250,553 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03069:Ofcc1
|
APN |
13 |
40,226,140 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03133:Ofcc1
|
APN |
13 |
40,226,244 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03273:Ofcc1
|
APN |
13 |
40,334,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Ofcc1
|
APN |
13 |
40,226,140 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03349:Ofcc1
|
APN |
13 |
40,226,228 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03399:Ofcc1
|
APN |
13 |
40,296,314 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
LCD18:Ofcc1
|
UTSW |
13 |
40,246,443 (GRCm39) |
intron |
probably benign |
|
|
R0122:Ofcc1
|
UTSW |
13 |
40,434,032 (GRCm39) |
splice site |
probably null |
|
|
R0320:Ofcc1
|
UTSW |
13 |
40,360,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0386:Ofcc1
|
UTSW |
13 |
40,367,950 (GRCm39) |
nonsense |
probably null |
|
|
R0390:Ofcc1
|
UTSW |
13 |
40,168,789 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0829:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0866:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0945:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0981:Ofcc1
|
UTSW |
13 |
40,226,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1056:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1186:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1187:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1400:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1411:Ofcc1
|
UTSW |
13 |
40,296,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1419:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1474:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1636:Ofcc1
|
UTSW |
13 |
40,333,904 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1691:Ofcc1
|
UTSW |
13 |
40,362,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1886:Ofcc1
|
UTSW |
13 |
40,360,100 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1887:Ofcc1
|
UTSW |
13 |
40,360,100 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2176:Ofcc1
|
UTSW |
13 |
40,250,595 (GRCm39) |
missense |
probably benign |
|
|
R2189:Ofcc1
|
UTSW |
13 |
40,333,924 (GRCm39) |
missense |
probably benign |
|
|
R2242:Ofcc1
|
UTSW |
13 |
40,296,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2255:Ofcc1
|
UTSW |
13 |
40,248,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2471:Ofcc1
|
UTSW |
13 |
40,250,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Ofcc1
|
UTSW |
13 |
40,241,414 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2863:Ofcc1
|
UTSW |
13 |
40,226,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Ofcc1
|
UTSW |
13 |
40,168,937 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4573:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Ofcc1
|
UTSW |
13 |
40,155,368 (GRCm39) |
splice site |
probably null |
|
|
R4790:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Ofcc1
|
UTSW |
13 |
40,433,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4834:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Ofcc1
|
UTSW |
13 |
40,367,993 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4948:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Ofcc1
|
UTSW |
13 |
40,168,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Ofcc1
|
UTSW |
13 |
40,417,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5339:Ofcc1
|
UTSW |
13 |
40,241,321 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5512:Ofcc1
|
UTSW |
13 |
40,360,286 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5566:Ofcc1
|
UTSW |
13 |
40,248,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5672:Ofcc1
|
UTSW |
13 |
40,433,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5734:Ofcc1
|
UTSW |
13 |
40,241,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Ofcc1
|
UTSW |
13 |
40,434,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Ofcc1
|
UTSW |
13 |
40,360,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5896:Ofcc1
|
UTSW |
13 |
40,334,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5909:Ofcc1
|
UTSW |
13 |
40,417,054 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5995:Ofcc1
|
UTSW |
13 |
40,433,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Ofcc1
|
UTSW |
13 |
40,302,052 (GRCm39) |
missense |
probably benign |
|
|
R6460:Ofcc1
|
UTSW |
13 |
40,441,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6504:Ofcc1
|
UTSW |
13 |
40,250,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Ofcc1
|
UTSW |
13 |
40,241,423 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7091:Ofcc1
|
UTSW |
13 |
40,226,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7098:Ofcc1
|
UTSW |
13 |
40,157,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7142:Ofcc1
|
UTSW |
13 |
40,157,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7240:Ofcc1
|
UTSW |
13 |
40,362,317 (GRCm39) |
missense |
probably benign |
|
|
R7589:Ofcc1
|
UTSW |
13 |
40,408,960 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7792:Ofcc1
|
UTSW |
13 |
40,296,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7852:Ofcc1
|
UTSW |
13 |
40,333,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Ofcc1
|
UTSW |
13 |
40,433,781 (GRCm39) |
missense |
probably benign |
|
|
R7952:Ofcc1
|
UTSW |
13 |
40,433,781 (GRCm39) |
missense |
probably benign |
|
|
R8751:Ofcc1
|
UTSW |
13 |
40,409,072 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8991:Ofcc1
|
UTSW |
13 |
40,296,277 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9119:Ofcc1
|
UTSW |
13 |
40,334,016 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9290:Ofcc1
|
UTSW |
13 |
40,433,802 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0005:Ofcc1
|
UTSW |
13 |
40,434,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0005:Ofcc1
|
UTSW |
13 |
40,296,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATCAGGTTTAAGTTCACAC -3'
(R):5'- TCGTGGAAAATTGACTTTGTTCCTG -3'
Sequencing Primer
(F):5'- GGTTTAAGTTCACACATTTAAGAACG -3'
(R):5'- GTGCACGATTACATCTGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation