Incidental Mutation 'R0122:Ofcc1'
| ID |
21115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
038407-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0122 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
40155358-40514926 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 40434032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054635]
[ENSMUST00000224813]
[ENSMUST00000224909]
|
| AlphaFold |
Q8BGX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054635
|
| SMART Domains |
Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
| 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 null
Transcript: ENSMUST00000224813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224909
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
99% (78/79) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,614,077 (GRCm39) |
I60F |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,454 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,061,474 (GRCm39) |
E360G |
probably damaging |
Het |
| Atn1 |
A |
T |
6: 124,720,197 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Baz2b |
G |
T |
2: 59,743,963 (GRCm39) |
|
probably null |
Het |
| Bloc1s6 |
G |
C |
2: 122,587,963 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C1qa |
T |
A |
4: 136,625,142 (GRCm39) |
T3S |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,319,647 (GRCm39) |
F1351Y |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,512,206 (GRCm39) |
A356V |
probably benign |
Het |
| Ccdc116 |
T |
A |
16: 16,960,598 (GRCm39) |
D73V |
probably damaging |
Het |
| Ces2g |
T |
C |
8: 105,694,932 (GRCm39) |
Y518H |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,261,431 (GRCm39) |
|
probably benign |
Het |
| Cmc1 |
A |
T |
9: 117,894,388 (GRCm39) |
C29S |
probably damaging |
Het |
| Coil |
T |
A |
11: 88,875,833 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,380,057 (GRCm39) |
|
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,737,229 (GRCm39) |
I135T |
possibly damaging |
Het |
| Cyld |
T |
C |
8: 89,468,920 (GRCm39) |
S564P |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,378,509 (GRCm39) |
N2948K |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,436,301 (GRCm39) |
R4014W |
probably damaging |
Het |
| Dnmt3b |
T |
C |
2: 153,518,618 (GRCm39) |
Y594H |
probably damaging |
Het |
| Dntt |
A |
G |
19: 41,041,477 (GRCm39) |
K387R |
possibly damaging |
Het |
| Efcab7 |
G |
A |
4: 99,749,560 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
G |
T |
1: 190,753,423 (GRCm39) |
P250T |
possibly damaging |
Het |
| Gga2 |
C |
A |
7: 121,590,797 (GRCm39) |
V504L |
probably damaging |
Het |
| Gm12239 |
T |
A |
11: 55,906,738 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
T |
C |
16: 12,578,890 (GRCm39) |
|
noncoding transcript |
Het |
| Krt26 |
G |
T |
11: 99,224,545 (GRCm39) |
Y324* |
probably null |
Het |
| Lamb2 |
A |
T |
9: 108,363,713 (GRCm39) |
H939L |
probably benign |
Het |
| Lipo3 |
C |
T |
19: 33,600,086 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
G |
A |
9: 7,386,689 (GRCm39) |
T145M |
probably damaging |
Het |
| Mrps27 |
G |
T |
13: 99,501,736 (GRCm39) |
V76L |
probably benign |
Het |
| Mup6 |
T |
A |
4: 60,003,995 (GRCm39) |
Y29* |
probably null |
Het |
| Nlrc3 |
T |
C |
16: 3,776,822 (GRCm39) |
K756E |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,505,133 (GRCm39) |
H527R |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,051,306 (GRCm39) |
V59A |
probably benign |
Het |
| Or10d1 |
A |
T |
9: 39,484,020 (GRCm39) |
D178E |
probably damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,889 (GRCm39) |
V144A |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,652,565 (GRCm39) |
W28R |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,851 (GRCm39) |
S142P |
probably damaging |
Het |
| Pias4 |
G |
T |
10: 80,992,921 (GRCm39) |
Q22K |
probably damaging |
Het |
| Pin1 |
T |
C |
9: 20,573,600 (GRCm39) |
I95T |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,424,974 (GRCm39) |
D156E |
probably benign |
Het |
| Prickle2 |
G |
A |
6: 92,388,326 (GRCm39) |
Q359* |
probably null |
Het |
| Qrich2 |
G |
T |
11: 116,337,639 (GRCm39) |
Q1950K |
possibly damaging |
Het |
| Rab10 |
C |
A |
12: 3,359,357 (GRCm39) |
G21V |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,447,033 (GRCm39) |
|
probably benign |
Het |
| Samd4 |
C |
A |
14: 47,254,017 (GRCm39) |
S160R |
probably benign |
Het |
| Scube3 |
A |
C |
17: 28,385,502 (GRCm39) |
|
probably benign |
Het |
| Serpinf2 |
A |
G |
11: 75,327,372 (GRCm39) |
L185P |
probably damaging |
Het |
| Slc16a12 |
A |
G |
19: 34,652,264 (GRCm39) |
I294T |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,905,478 (GRCm39) |
M167K |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,450,910 (GRCm39) |
L2673Q |
possibly damaging |
Het |
| Supt3 |
A |
G |
17: 45,314,028 (GRCm39) |
D139G |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,945,290 (GRCm39) |
M644V |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,775,781 (GRCm39) |
T276A |
probably damaging |
Het |
| Tmem177 |
T |
C |
1: 119,838,308 (GRCm39) |
I124V |
probably benign |
Het |
| Tmprss11f |
G |
T |
5: 86,681,484 (GRCm39) |
|
probably benign |
Het |
| Tmprss3 |
G |
A |
17: 31,412,876 (GRCm39) |
|
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,484,430 (GRCm39) |
|
probably benign |
Het |
| Uba52 |
T |
A |
8: 70,961,951 (GRCm39) |
Q166L |
probably damaging |
Het |
| Ubr3 |
G |
T |
2: 69,809,756 (GRCm39) |
G1242V |
probably damaging |
Het |
| Unc13d |
C |
T |
11: 115,956,308 (GRCm39) |
S835N |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,680,652 (GRCm39) |
K4877E |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,662 (GRCm39) |
I387V |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,265,809 (GRCm39) |
I490N |
probably damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,768 (GRCm39) |
|
probably null |
Het |
| Zfp110 |
C |
A |
7: 12,582,524 (GRCm39) |
H391N |
possibly damaging |
Het |
| Zfp212 |
C |
T |
6: 47,907,957 (GRCm39) |
P312L |
possibly damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,914 (GRCm39) |
H203Q |
probably damaging |
Het |
| Zscan12 |
G |
A |
13: 21,553,139 (GRCm39) |
G321E |
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 |
|
|
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 |
|
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'- TGAGCACAATCAGGACTGAAGTCAC -3'
(R):5'- GACATTTCAATGCCATCCGCCATC -3'
Sequencing Primer
(F):5'- ACTGAAGTCACACCTTTGGG -3'
(R):5'- GGACGATACACTTGAGTCTTTCTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation