Incidental Mutation 'R1186:Ofcc1'
ID |
102177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ofcc1
|
Ensembl Gene |
ENSMUSG00000047094 |
Gene Name |
orofacial cleft 1 candidate 1 |
Synonyms |
Opo, ojoplano |
MMRRC Submission |
039258-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1186 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
40155358-40514926 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40362305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 206
(G206R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054635]
[ENSMUST00000224909]
|
AlphaFold |
Q8BGX4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054635
AA Change: G206R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000062217 Gene: ENSMUSG00000047094 AA Change: G206R
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 |
unknown
Transcript: ENSMUST00000224909
AA Change: R180Q
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 95.7%
- 20x: 90.1%
|
Validation Efficiency |
97% (69/71) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
G |
A |
10: 21,497,551 (GRCm39) |
R64Q |
probably benign |
Het |
9530068E07Rik |
G |
A |
11: 52,293,905 (GRCm39) |
V49I |
probably benign |
Het |
A2m |
T |
C |
6: 121,638,493 (GRCm39) |
S902P |
probably benign |
Het |
Aatf |
A |
T |
11: 84,361,375 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,306,746 (GRCm39) |
T1395A |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,427,412 (GRCm39) |
|
probably null |
Het |
Ank3 |
G |
T |
10: 69,703,290 (GRCm39) |
A308S |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,053,476 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,050,461 (GRCm39) |
|
probably benign |
Het |
C4b |
T |
C |
17: 34,955,283 (GRCm39) |
D769G |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,751,122 (GRCm39) |
S2017P |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,711,856 (GRCm39) |
I2704F |
unknown |
Het |
Crip2 |
G |
A |
12: 113,108,579 (GRCm39) |
|
probably benign |
Het |
Cyp4f14 |
T |
C |
17: 33,135,760 (GRCm39) |
I34V |
probably benign |
Het |
Dcstamp |
A |
G |
15: 39,618,025 (GRCm39) |
|
probably null |
Het |
Ddx5 |
T |
C |
11: 106,674,805 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
T |
11: 69,406,526 (GRCm39) |
L572Q |
probably damaging |
Het |
Espl1 |
G |
A |
15: 102,212,474 (GRCm39) |
A527T |
probably benign |
Het |
Fam83d |
A |
G |
2: 158,627,094 (GRCm39) |
D261G |
probably damaging |
Het |
Fbxo34 |
T |
C |
14: 47,768,043 (GRCm39) |
F468L |
probably damaging |
Het |
Gabarapl1 |
A |
T |
6: 129,510,368 (GRCm39) |
|
probably benign |
Het |
Galnt17 |
G |
T |
5: 131,140,580 (GRCm39) |
T179K |
probably damaging |
Het |
Gm6899 |
C |
T |
11: 26,543,685 (GRCm39) |
|
probably benign |
Het |
Helz2 |
T |
A |
2: 180,872,921 (GRCm39) |
R2433W |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,671,920 (GRCm39) |
|
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ica1 |
A |
G |
6: 8,672,326 (GRCm39) |
L225P |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,296,307 (GRCm39) |
I195T |
probably benign |
Het |
Isyna1 |
C |
A |
8: 71,047,851 (GRCm39) |
N115K |
probably benign |
Het |
Ly6g6e |
T |
C |
17: 35,296,984 (GRCm39) |
F75S |
probably benign |
Het |
Ly96 |
A |
G |
1: 16,771,118 (GRCm39) |
D101G |
possibly damaging |
Het |
Mapk9 |
A |
G |
11: 49,769,096 (GRCm39) |
T243A |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,892,470 (GRCm39) |
V48A |
probably benign |
Het |
Mcpt2 |
C |
T |
14: 56,281,402 (GRCm39) |
|
probably benign |
Het |
Med24 |
T |
C |
11: 98,608,583 (GRCm39) |
|
probably benign |
Het |
Mtbp |
G |
A |
15: 55,428,067 (GRCm39) |
G162S |
probably null |
Het |
Mtfr2 |
G |
A |
10: 20,228,598 (GRCm39) |
C48Y |
probably benign |
Het |
Naip2 |
AGGG |
AGG |
13: 100,298,545 (GRCm39) |
|
probably null |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Ncoa4-ps |
A |
C |
12: 119,225,206 (GRCm39) |
|
noncoding transcript |
Het |
Nup107 |
A |
C |
10: 117,613,051 (GRCm39) |
Y292* |
probably null |
Het |
Nwd2 |
C |
T |
5: 63,807,367 (GRCm39) |
|
probably benign |
Het |
Nxpe4 |
A |
C |
9: 48,304,692 (GRCm39) |
N260H |
probably benign |
Het |
Or6z7 |
T |
C |
7: 6,483,541 (GRCm39) |
I205V |
probably benign |
Het |
Or8b42 |
T |
C |
9: 38,342,397 (GRCm39) |
V273A |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,453 (GRCm39) |
S142P |
probably damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,807 (GRCm39) |
L82M |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,808,514 (GRCm39) |
Y299H |
probably damaging |
Het |
Per3 |
T |
A |
4: 151,110,595 (GRCm39) |
E401V |
probably damaging |
Het |
Rbm34 |
C |
A |
8: 127,692,197 (GRCm39) |
E182* |
probably null |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Senp2 |
T |
C |
16: 21,830,254 (GRCm39) |
S38P |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,055,057 (GRCm39) |
|
probably null |
Het |
Spred1 |
A |
T |
2: 117,008,178 (GRCm39) |
R361S |
possibly damaging |
Het |
Spry2 |
A |
G |
14: 106,130,341 (GRCm39) |
C282R |
probably damaging |
Het |
Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
Taar8c |
G |
C |
10: 23,977,463 (GRCm39) |
Y116* |
probably null |
Het |
Tchh |
C |
G |
3: 93,355,353 (GRCm39) |
R1598G |
unknown |
Het |
Tex15 |
A |
G |
8: 34,061,661 (GRCm39) |
M364V |
probably benign |
Het |
Ttbk1 |
T |
C |
17: 46,778,057 (GRCm39) |
R662G |
probably damaging |
Het |
Ttc5 |
G |
A |
14: 51,004,683 (GRCm39) |
Q374* |
probably null |
Het |
Usp46 |
C |
T |
5: 74,162,783 (GRCm39) |
A312T |
probably benign |
Het |
Vmn1r176 |
A |
T |
7: 23,535,051 (GRCm39) |
L34Q |
probably damaging |
Het |
Vmn1r178 |
A |
T |
7: 23,593,317 (GRCm39) |
R122* |
probably null |
Het |
Vmn2r6 |
T |
A |
3: 64,472,488 (GRCm39) |
M78L |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,227,573 (GRCm39) |
I2012N |
probably benign |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
Het |
Zfyve26 |
G |
A |
12: 79,310,723 (GRCm39) |
L161F |
probably damaging |
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 |
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 |
R4656: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'- GGACAGCCACACAATGGATGTCTT -3'
(R):5'- ACCATGTTTAATCATGAGCAGCACCTT -3'
Sequencing Primer
(F):5'- CACACAATGGATGTCTTCATCTGAC -3'
(R):5'- TCTTTCTTTCTTCGTTG -3'
|
Posted On |
2014-01-15 |