Incidental Mutation 'R4573:Ofcc1'
| ID |
342289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
041598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4573 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,253,293 (GRCm39) |
E212G |
probably damaging |
Het |
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Akr1b10 |
T |
C |
6: 34,369,064 (GRCm39) |
V153A |
probably damaging |
Het |
| Ap1m2 |
T |
C |
9: 21,217,054 (GRCm39) |
Y94C |
probably damaging |
Het |
| Arhgef33 |
T |
C |
17: 80,672,711 (GRCm39) |
S320P |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,408,108 (GRCm39) |
S87P |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,622,190 (GRCm39) |
Y458C |
probably damaging |
Het |
| Aspm |
G |
T |
1: 139,407,245 (GRCm39) |
W2044L |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,004,663 (GRCm39) |
|
probably null |
Het |
| Atp1a2 |
T |
C |
1: 172,106,204 (GRCm39) |
I869M |
possibly damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,731,412 (GRCm39) |
L263F |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,202 (GRCm39) |
|
probably null |
Het |
| Carf |
G |
T |
1: 60,187,271 (GRCm39) |
A590S |
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,967,245 (GRCm39) |
D658E |
probably damaging |
Het |
| Cd1d2 |
A |
G |
3: 86,894,861 (GRCm39) |
I78V |
probably benign |
Het |
| Cdc42bpb |
A |
T |
12: 111,289,575 (GRCm39) |
M418K |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,118,152 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
G |
10: 100,354,712 (GRCm39) |
K932R |
probably benign |
Het |
| Ces1d |
A |
C |
8: 93,908,162 (GRCm39) |
N310K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,935,960 (GRCm39) |
K240R |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,848,061 (GRCm39) |
E193G |
probably benign |
Het |
| Dhrs9 |
C |
A |
2: 69,227,985 (GRCm39) |
H200N |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,919,380 (GRCm39) |
S1118P |
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,492,882 (GRCm39) |
Y705C |
possibly damaging |
Het |
| Elmod1 |
T |
C |
9: 53,833,256 (GRCm39) |
N183S |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,498,129 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,816,510 (GRCm39) |
Y4081F |
possibly damaging |
Het |
| Gsr |
A |
G |
8: 34,183,881 (GRCm39) |
D381G |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,229 (GRCm39) |
L253S |
possibly damaging |
Het |
| Herc3 |
C |
A |
6: 58,871,098 (GRCm39) |
T69K |
possibly damaging |
Het |
| Hoxb13 |
A |
G |
11: 96,085,777 (GRCm39) |
Y170C |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,964 (GRCm39) |
M161V |
probably benign |
Het |
| Lrp6 |
G |
A |
6: 134,447,693 (GRCm39) |
R985* |
probably null |
Het |
| Marchf5 |
T |
A |
19: 37,197,793 (GRCm39) |
I154K |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,715,835 (GRCm39) |
|
probably null |
Het |
| Mrpl2 |
G |
T |
17: 46,959,967 (GRCm39) |
C212F |
possibly damaging |
Het |
| Mterf1a |
G |
A |
5: 3,941,119 (GRCm39) |
R250W |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,340,912 (GRCm39) |
|
probably null |
Het |
| Mul1 |
T |
C |
4: 138,163,660 (GRCm39) |
F19L |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,583,733 (GRCm39) |
A74E |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,108,579 (GRCm39) |
|
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,132,889 (GRCm39) |
S33T |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,579,517 (GRCm39) |
V412A |
possibly damaging |
Het |
| Ninj1 |
A |
G |
13: 49,348,463 (GRCm39) |
N191S |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,330,770 (GRCm39) |
|
probably null |
Het |
| Or1j21 |
T |
A |
2: 36,683,491 (GRCm39) |
M81K |
probably damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,202 (GRCm39) |
I219M |
probably damaging |
Het |
| Osbpl5 |
C |
A |
7: 143,248,053 (GRCm39) |
V671L |
probably benign |
Het |
| Paics |
T |
C |
5: 77,104,450 (GRCm39) |
L25S |
probably benign |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,591 (GRCm39) |
E20G |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,102,966 (GRCm39) |
Q228* |
probably null |
Het |
| Pnpla7 |
T |
C |
2: 24,940,885 (GRCm39) |
V1079A |
probably damaging |
Het |
| Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
| Ppp1r14c |
A |
G |
10: 3,413,416 (GRCm39) |
I150V |
possibly damaging |
Het |
| Ppp1r2 |
A |
G |
16: 31,079,455 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Ptchd4 |
T |
C |
17: 42,813,668 (GRCm39) |
V523A |
probably benign |
Het |
| Rabep1 |
G |
C |
11: 70,808,577 (GRCm39) |
S468T |
probably damaging |
Het |
| Rgs6 |
T |
A |
12: 83,112,789 (GRCm39) |
W200R |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,585,519 (GRCm39) |
|
probably null |
Het |
| Scamp2 |
A |
T |
9: 57,484,477 (GRCm39) |
D20V |
probably damaging |
Het |
| Sec24d |
G |
A |
3: 123,152,519 (GRCm39) |
V844M |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,028,151 (GRCm39) |
N57Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,570 (GRCm39) |
K931E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,463,934 (GRCm39) |
T258A |
probably benign |
Het |
| Slc15a1 |
A |
G |
14: 121,724,441 (GRCm39) |
S144P |
probably damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,135,253 (GRCm39) |
V425E |
probably benign |
Het |
| Syt7 |
C |
T |
19: 10,416,576 (GRCm39) |
R253* |
probably null |
Het |
| Tm4sf1 |
A |
T |
3: 57,202,206 (GRCm39) |
C2S |
possibly damaging |
Het |
| Trio |
CCTTCTTCTTCT |
CCTTCTTCT |
15: 27,773,084 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
C |
T |
19: 22,879,506 (GRCm39) |
H594Y |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,207 (GRCm39) |
N400K |
probably damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,441 (GRCm39) |
M300K |
probably benign |
Het |
| Vmn1r70 |
C |
A |
7: 10,367,556 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,339 (GRCm39) |
D410N |
probably damaging |
Het |
| Yap1 |
T |
C |
9: 7,934,682 (GRCm39) |
D428G |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,587,127 (GRCm39) |
I70T |
probably benign |
Het |
| Zfp157 |
A |
G |
5: 138,455,191 (GRCm39) |
Y463C |
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 |
|
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 |
|
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'- TTGGCATCAGGTTTAAGTTCAC -3'
(R):5'- CGTGGAAAATTGACTTTGTTCCTG -3'
Sequencing Primer
(F):5'- GGTTTAAGTTCACACATTTAAGAACG -3'
(R):5'- GTGCACGATTACATCTGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation