Incidental Mutation 'R1886:Ofcc1'
ID |
209577 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ofcc1
|
Ensembl Gene |
ENSMUSG00000047094 |
Gene Name |
orofacial cleft 1 candidate 1 |
Synonyms |
Opo, ojoplano |
MMRRC Submission |
039907-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1886 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
40155358-40514926 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40360100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 310
(S310G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054635]
[ENSMUST00000224909]
|
AlphaFold |
Q8BGX4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054635
AA Change: S310G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062217 Gene: ENSMUSG00000047094 AA Change: S310G
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
|
Coding Region Coverage |
- 1x: 97.2%
- 3x: 96.2%
- 10x: 93.1%
- 20x: 85.9%
|
Validation Efficiency |
|
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
Aarsd1 |
T |
C |
11: 101,302,227 (GRCm39) |
T278A |
probably benign |
Het |
Acacb |
T |
A |
5: 114,357,020 (GRCm39) |
L1317Q |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,510,741 (GRCm39) |
V293A |
probably damaging |
Het |
Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
Aen |
A |
T |
7: 78,557,073 (GRCm39) |
D307V |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,993,343 (GRCm39) |
D4876N |
probably damaging |
Het |
Ap2b1 |
T |
A |
11: 83,281,561 (GRCm39) |
N822K |
probably damaging |
Het |
Arhgdia |
T |
C |
11: 120,470,244 (GRCm39) |
D143G |
probably benign |
Het |
Bcl9 |
G |
T |
3: 97,122,713 (GRCm39) |
R29S |
probably benign |
Het |
Bhmt2 |
T |
A |
13: 93,798,998 (GRCm39) |
K274N |
probably benign |
Het |
Brip1 |
C |
A |
11: 86,029,641 (GRCm39) |
G631V |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,243,145 (GRCm39) |
E434G |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
Cfap299 |
A |
G |
5: 98,949,690 (GRCm39) |
N208S |
probably benign |
Het |
Cit |
A |
G |
5: 116,071,545 (GRCm39) |
Y584C |
probably damaging |
Het |
Crebl2 |
T |
C |
6: 134,828,059 (GRCm39) |
M77T |
probably benign |
Het |
Dach2 |
G |
A |
X: 112,208,305 (GRCm39) |
G61D |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,759,199 (GRCm39) |
D237E |
probably damaging |
Het |
Dgcr8 |
A |
G |
16: 18,096,218 (GRCm39) |
I490T |
possibly damaging |
Het |
Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
Dnah17 |
T |
A |
11: 117,998,987 (GRCm39) |
I929F |
possibly damaging |
Het |
Eif3f |
A |
G |
7: 108,539,958 (GRCm39) |
T289A |
probably benign |
Het |
Ercc5 |
A |
T |
1: 44,215,136 (GRCm39) |
K890* |
probably null |
Het |
Esrp2 |
A |
T |
8: 106,860,489 (GRCm39) |
V247E |
probably damaging |
Het |
Evpl |
C |
T |
11: 116,118,402 (GRCm39) |
G735E |
probably damaging |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Fbxl21 |
A |
G |
13: 56,674,906 (GRCm39) |
I60V |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,340,514 (GRCm39) |
I936V |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,696,984 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
T |
C |
10: 99,281,444 (GRCm39) |
|
noncoding transcript |
Het |
Gbp2b |
A |
G |
3: 142,314,063 (GRCm39) |
T448A |
probably benign |
Het |
Gfus |
G |
T |
15: 75,798,838 (GRCm39) |
T123N |
possibly damaging |
Het |
Gmppa |
T |
C |
1: 75,419,152 (GRCm39) |
V353A |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,453,046 (GRCm39) |
E5423G |
probably benign |
Het |
Hmgxb3 |
A |
G |
18: 61,270,473 (GRCm39) |
|
probably null |
Het |
Krt12 |
T |
C |
11: 99,309,402 (GRCm39) |
D286G |
probably damaging |
Het |
Krt75 |
A |
T |
15: 101,479,532 (GRCm39) |
M266K |
probably damaging |
Het |
Ksr1 |
C |
A |
11: 78,911,204 (GRCm39) |
V11F |
probably null |
Het |
Lag3 |
T |
C |
6: 124,886,402 (GRCm39) |
N184D |
probably damaging |
Het |
Lsm10 |
C |
G |
4: 125,991,741 (GRCm39) |
D32E |
probably benign |
Het |
Mettl5 |
A |
G |
2: 69,711,149 (GRCm39) |
V123A |
probably damaging |
Het |
Mfrp |
A |
G |
9: 44,014,785 (GRCm39) |
D274G |
possibly damaging |
Het |
Mgat3 |
A |
G |
15: 80,095,820 (GRCm39) |
I216V |
probably benign |
Het |
Mkrn3 |
G |
A |
7: 62,068,486 (GRCm39) |
A435V |
probably benign |
Het |
Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
Mplkipl1 |
A |
G |
19: 61,164,136 (GRCm39) |
F100L |
probably damaging |
Het |
Mttp |
A |
T |
3: 137,798,376 (GRCm39) |
V840D |
probably damaging |
Het |
Nadk2 |
A |
C |
15: 9,103,446 (GRCm39) |
N308H |
possibly damaging |
Het |
Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
Nlk |
T |
A |
11: 78,477,754 (GRCm39) |
I330F |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
Or5p73 |
A |
T |
7: 108,064,947 (GRCm39) |
M139L |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,510,247 (GRCm39) |
|
probably null |
Het |
Orc3 |
A |
G |
4: 34,584,829 (GRCm39) |
Y459H |
probably damaging |
Het |
Pah |
T |
A |
10: 87,364,190 (GRCm39) |
N30K |
possibly damaging |
Het |
Pcsk4 |
T |
C |
10: 80,164,794 (GRCm39) |
K74E |
probably benign |
Het |
Pdlim7 |
C |
T |
13: 55,653,981 (GRCm39) |
G212D |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,025,627 (GRCm39) |
N547S |
probably damaging |
Het |
Por |
A |
G |
5: 135,763,128 (GRCm39) |
E546G |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,111,496 (GRCm39) |
S774P |
probably damaging |
Het |
Prdm1 |
T |
A |
10: 44,315,754 (GRCm39) |
D794V |
probably damaging |
Het |
Prdx5 |
A |
G |
19: 6,885,558 (GRCm39) |
I32T |
probably benign |
Het |
Prlhr |
G |
T |
19: 60,455,932 (GRCm39) |
C211* |
probably null |
Het |
Ripk3 |
C |
T |
14: 56,025,694 (GRCm39) |
|
probably null |
Het |
Rmnd5b |
G |
A |
11: 51,518,465 (GRCm39) |
A137V |
probably damaging |
Het |
Rwdd2b |
A |
T |
16: 87,234,013 (GRCm39) |
F72I |
probably benign |
Het |
Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
Septin1 |
A |
G |
7: 126,813,937 (GRCm39) |
|
probably benign |
Het |
Serpinb9h |
C |
T |
13: 33,588,203 (GRCm39) |
R263C |
possibly damaging |
Het |
Slc30a10 |
T |
A |
1: 185,195,061 (GRCm39) |
I291N |
probably damaging |
Het |
Slc7a9 |
T |
G |
7: 35,152,827 (GRCm39) |
C20W |
possibly damaging |
Het |
Slc7a9 |
G |
C |
7: 35,152,828 (GRCm39) |
A21P |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
Sra1 |
T |
C |
18: 36,801,830 (GRCm39) |
M87V |
probably benign |
Het |
Syvn1 |
T |
C |
19: 6,099,257 (GRCm39) |
S169P |
possibly damaging |
Het |
Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
Tmem62 |
A |
T |
2: 120,817,151 (GRCm39) |
I236F |
probably damaging |
Het |
Trip4 |
T |
A |
9: 65,782,163 (GRCm39) |
I190F |
probably null |
Het |
Trpa1 |
T |
C |
1: 14,959,649 (GRCm39) |
D679G |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,494,063 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,759,043 (GRCm39) |
|
probably null |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Usp36 |
A |
T |
11: 118,163,784 (GRCm39) |
Y255N |
probably damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,960 (GRCm39) |
Y96N |
probably benign |
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 |
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'- AGATAGATGATGATAGAAAGCTAGCT -3'
(R):5'- GCAGCCTCAGTTGCCTAGT -3'
Sequencing Primer
(F):5'- CAAAGACAGAGAGACAGATAGACC -3'
(R):5'- TACAGATCAGATGTATTAGGGGCCTC -3'
|
Posted On |
2014-06-30 |