Incidental Mutation 'R6306:Ofcc1'
ID |
509692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ofcc1
|
Ensembl Gene |
ENSMUSG00000047094 |
Gene Name |
orofacial cleft 1 candidate 1 |
Synonyms |
Opo, ojoplano |
MMRRC Submission |
044468-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6306 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
40155358-40514926 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40302052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 495
(M495L)
|
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: M495L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000062217 Gene: ENSMUSG00000047094 AA Change: M495L
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (88/88) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
G |
A |
9: 90,060,331 (GRCm39) |
|
probably null |
Het |
Adora2a |
T |
A |
10: 75,169,238 (GRCm39) |
V234E |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,479,965 (GRCm39) |
D188G |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,392,013 (GRCm39) |
F1886L |
probably benign |
Het |
Anks1 |
T |
G |
17: 28,269,613 (GRCm39) |
L769R |
probably damaging |
Het |
Apol10a |
A |
G |
15: 77,373,161 (GRCm39) |
I266V |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,121,896 (GRCm39) |
Y556C |
probably damaging |
Het |
Brd8 |
T |
A |
18: 34,744,304 (GRCm39) |
T175S |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,208,937 (GRCm39) |
V852I |
probably benign |
Het |
Cd55b |
G |
T |
1: 130,341,803 (GRCm39) |
P278Q |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,367,028 (GRCm39) |
S1126R |
possibly damaging |
Het |
Cfh |
C |
T |
1: 140,030,155 (GRCm39) |
C906Y |
probably damaging |
Het |
Chst13 |
C |
A |
6: 90,286,260 (GRCm39) |
R234L |
probably damaging |
Het |
Clcn7 |
T |
C |
17: 25,376,502 (GRCm39) |
F611L |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,075,441 (GRCm39) |
D873G |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 100,091,871 (GRCm39) |
I518T |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,014,969 (GRCm39) |
E812G |
probably damaging |
Het |
Cpa1 |
T |
C |
6: 30,640,953 (GRCm39) |
I148T |
probably damaging |
Het |
Cyp11a1 |
A |
G |
9: 57,932,383 (GRCm39) |
N232S |
probably benign |
Het |
Dhrs13 |
A |
G |
11: 77,923,519 (GRCm39) |
D79G |
probably damaging |
Het |
Disp1 |
T |
C |
1: 182,868,712 (GRCm39) |
E1236G |
possibly damaging |
Het |
Dnah1 |
A |
C |
14: 31,026,544 (GRCm39) |
L778R |
probably damaging |
Het |
Dnah14 |
CTGTG |
CTG |
1: 181,412,589 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dock9 |
A |
T |
14: 121,799,492 (GRCm39) |
I1729N |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,114,248 (GRCm39) |
V1192A |
possibly damaging |
Het |
Enpp2 |
A |
G |
15: 54,762,742 (GRCm39) |
S169P |
probably damaging |
Het |
Fam114a2 |
T |
G |
11: 57,404,972 (GRCm39) |
R43S |
probably damaging |
Het |
Fam13a |
T |
C |
6: 58,917,239 (GRCm39) |
T546A |
probably benign |
Het |
Fos |
A |
T |
12: 85,522,460 (GRCm39) |
D163V |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,912,805 (GRCm39) |
Y3370H |
probably damaging |
Het |
Fshr |
T |
C |
17: 89,507,961 (GRCm39) |
N27S |
probably null |
Het |
Galnt6 |
A |
G |
15: 100,591,305 (GRCm39) |
S600P |
possibly damaging |
Het |
Gars1 |
T |
A |
6: 55,032,809 (GRCm39) |
N260K |
probably damaging |
Het |
Gpr158 |
C |
G |
2: 21,820,422 (GRCm39) |
P640A |
possibly damaging |
Het |
Grep1 |
T |
C |
17: 23,925,124 (GRCm39) |
N495S |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,526,205 (GRCm39) |
D146G |
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,923,896 (GRCm39) |
T205A |
probably benign |
Het |
Kcnq3 |
T |
C |
15: 65,876,643 (GRCm39) |
D500G |
probably benign |
Het |
Kmt5c |
A |
G |
7: 4,749,480 (GRCm39) |
K333E |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,357,404 (GRCm39) |
S443P |
probably benign |
Het |
M6pr |
T |
C |
6: 122,292,121 (GRCm39) |
|
probably null |
Het |
Mccc2 |
T |
A |
13: 100,130,085 (GRCm39) |
I91L |
probably benign |
Het |
Nip7 |
A |
G |
8: 107,785,055 (GRCm39) |
D110G |
probably damaging |
Het |
Nol8 |
T |
A |
13: 49,829,829 (GRCm39) |
F1093I |
probably damaging |
Het |
Nrxn1 |
T |
C |
17: 90,872,874 (GRCm39) |
T1027A |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,490 (GRCm39) |
M259L |
probably benign |
Het |
Or7e178 |
A |
G |
9: 20,225,742 (GRCm39) |
M158T |
probably benign |
Het |
Pafah1b2 |
A |
T |
9: 45,886,425 (GRCm39) |
V81D |
probably damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,818,966 (GRCm39) |
S172C |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,813,639 (GRCm39) |
V282A |
probably damaging |
Het |
Plat |
A |
G |
8: 23,262,282 (GRCm39) |
D102G |
possibly damaging |
Het |
Plce1 |
C |
A |
19: 38,757,909 (GRCm39) |
Q1961K |
probably damaging |
Het |
Plppr3 |
T |
A |
10: 79,697,566 (GRCm39) |
K444* |
probably null |
Het |
Plscr3 |
A |
G |
11: 69,738,472 (GRCm39) |
|
probably null |
Het |
Prtg |
A |
T |
9: 72,813,468 (GRCm39) |
T943S |
probably benign |
Het |
Racgap1 |
A |
G |
15: 99,521,834 (GRCm39) |
F519L |
probably benign |
Het |
Rbms2 |
A |
T |
10: 127,987,050 (GRCm39) |
|
probably null |
Het |
Rfx7 |
A |
G |
9: 72,524,237 (GRCm39) |
T476A |
possibly damaging |
Het |
Rnf150 |
T |
A |
8: 83,810,131 (GRCm39) |
L421Q |
possibly damaging |
Het |
Sema3b |
A |
G |
9: 107,478,119 (GRCm39) |
L422P |
possibly damaging |
Het |
Shank2 |
G |
A |
7: 143,963,417 (GRCm39) |
A921T |
probably benign |
Het |
Skint3 |
A |
T |
4: 112,113,072 (GRCm39) |
E227D |
probably damaging |
Het |
Slc25a19 |
G |
A |
11: 115,508,386 (GRCm39) |
R201C |
possibly damaging |
Het |
Slc38a10 |
G |
T |
11: 120,038,645 (GRCm39) |
A40D |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,917,185 (GRCm39) |
T284A |
probably benign |
Het |
Smc1b |
A |
T |
15: 85,011,824 (GRCm39) |
F154I |
probably benign |
Het |
Spry2 |
A |
T |
14: 106,130,418 (GRCm39) |
M256K |
possibly damaging |
Het |
Stkld1 |
C |
T |
2: 26,833,899 (GRCm39) |
P129S |
probably damaging |
Het |
Syce2 |
T |
C |
8: 85,599,371 (GRCm39) |
L13S |
possibly damaging |
Het |
Tbc1d15 |
C |
A |
10: 115,069,148 (GRCm39) |
V74L |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,911,185 (GRCm39) |
V1074D |
probably damaging |
Het |
Tex36 |
G |
A |
7: 133,197,054 (GRCm39) |
T21I |
probably benign |
Het |
Ttn |
T |
G |
2: 76,554,454 (GRCm39) |
D30787A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,622,264 (GRCm39) |
Q13710L |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,362,260 (GRCm39) |
F1569L |
possibly damaging |
Het |
Vat1l |
C |
T |
8: 115,098,391 (GRCm39) |
A387V |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,460,470 (GRCm39) |
G209D |
possibly damaging |
Het |
Vmn1r113 |
G |
T |
7: 20,521,792 (GRCm39) |
D195Y |
probably damaging |
Het |
Vmn2r69 |
A |
C |
7: 85,064,799 (GRCm39) |
I29R |
probably benign |
Het |
Vti1b |
G |
A |
12: 79,207,323 (GRCm39) |
Q76* |
probably null |
Het |
Zfp423 |
C |
A |
8: 88,508,662 (GRCm39) |
V540F |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,785,990 (GRCm39) |
N186D |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp787 |
G |
A |
7: 6,135,360 (GRCm39) |
A297V |
probably damaging |
Het |
Zfp827 |
G |
T |
8: 79,787,324 (GRCm39) |
Q163H |
probably damaging |
Het |
Zfp955b |
T |
A |
17: 33,522,160 (GRCm39) |
V543E |
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 |
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 |
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'- CGGGCGCTATAGATTTGTCAG -3'
(R):5'- CTTAAGGGGATTGACACATTCATG -3'
Sequencing Primer
(F):5'- CGCTATAGATTTGTCAGGCATTAG -3'
(R):5'- GCTGTGGTTGTATTTAAGCTAAAAG -3'
|
Posted On |
2018-04-02 |