Incidental Mutation 'R1691:Ofcc1'
| ID |
191820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
039724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1691 (G1)
|
| Quality Score |
194 |
|
Status
|
Not 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
C |
7: 82,148,814 (GRCm39) |
S283P |
probably damaging |
Het |
| Adck2 |
T |
A |
6: 39,551,902 (GRCm39) |
L223* |
probably null |
Het |
| Ank |
T |
C |
15: 27,591,030 (GRCm39) |
W390R |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,240,327 (GRCm39) |
Y752H |
probably damaging |
Het |
| Apcs |
T |
A |
1: 172,722,160 (GRCm39) |
D62V |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,358 (GRCm39) |
T482A |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
| Ccdc13 |
A |
T |
9: 121,654,134 (GRCm39) |
|
probably null |
Het |
| Ccdc157 |
G |
A |
11: 4,099,030 (GRCm39) |
P159S |
probably benign |
Het |
| Cdhr3 |
C |
T |
12: 33,132,246 (GRCm39) |
V126M |
probably damaging |
Het |
| Cdr1 |
T |
C |
X: 60,227,780 (GRCm39) |
D462G |
possibly damaging |
Het |
| Cisd1 |
A |
G |
10: 71,180,559 (GRCm39) |
V9A |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,576,022 (GRCm39) |
R107G |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,536,038 (GRCm39) |
H972Q |
unknown |
Het |
| Col3a1 |
T |
A |
1: 45,387,776 (GRCm39) |
|
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,747,174 (GRCm39) |
S235G |
probably null |
Het |
| Dock4 |
T |
A |
12: 40,775,754 (GRCm39) |
S566T |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,817,407 (GRCm39) |
D722G |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,361,403 (GRCm39) |
Q97R |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,202,678 (GRCm39) |
T132I |
probably damaging |
Het |
| Fgd2 |
C |
T |
17: 29,597,918 (GRCm39) |
Q618* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,441,213 (GRCm39) |
V389E |
probably benign |
Het |
| Garnl3 |
A |
T |
2: 32,887,675 (GRCm39) |
Y778* |
probably null |
Het |
| Gpaa1 |
A |
T |
15: 76,216,416 (GRCm39) |
Y45F |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,174,286 (GRCm39) |
I643F |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,705,314 (GRCm39) |
D133G |
probably damaging |
Het |
| Hp |
T |
C |
8: 110,302,204 (GRCm39) |
D248G |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifna13 |
T |
C |
4: 88,562,291 (GRCm39) |
D111G |
probably benign |
Het |
| Il9r |
T |
A |
11: 32,141,829 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Insyn2a |
C |
T |
7: 134,520,015 (GRCm39) |
A172T |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,754,687 (GRCm39) |
D617E |
probably damaging |
Het |
| Kcnj12 |
A |
T |
11: 60,961,103 (GRCm39) |
N467I |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,669,847 (GRCm39) |
D111E |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,956,559 (GRCm39) |
K1161E |
probably benign |
Het |
| Lamc1 |
C |
T |
1: 153,122,995 (GRCm39) |
D732N |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,874 (GRCm39) |
T517A |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,735,661 (GRCm39) |
I757T |
probably damaging |
Het |
| Max |
T |
C |
12: 77,000,046 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nars1 |
A |
T |
18: 64,649,485 (GRCm39) |
|
probably null |
Het |
| Nipsnap3a |
G |
A |
4: 52,994,185 (GRCm39) |
D91N |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,880,010 (GRCm39) |
T11A |
probably benign |
Het |
| Nr2c2 |
C |
A |
6: 92,133,673 (GRCm39) |
T226K |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,469,717 (GRCm39) |
I1288T |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,425,537 (GRCm39) |
T360I |
possibly damaging |
Het |
| Or10a3b |
A |
G |
7: 108,444,348 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Or13a21 |
A |
T |
7: 139,998,855 (GRCm39) |
L277Q |
probably damaging |
Het |
| Or4e1 |
A |
T |
14: 52,701,288 (GRCm39) |
H59Q |
possibly damaging |
Het |
| Or4k37 |
G |
A |
2: 111,159,198 (GRCm39) |
V145I |
probably benign |
Het |
| Or6d14 |
A |
G |
6: 116,533,538 (GRCm39) |
T51A |
probably benign |
Het |
| Or9i1b |
C |
T |
19: 13,896,783 (GRCm39) |
T133I |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,344 (GRCm39) |
D723G |
possibly damaging |
Het |
| Phrf1 |
C |
A |
7: 140,841,787 (GRCm39) |
Y715* |
probably null |
Het |
| Pigm |
T |
C |
1: 172,204,354 (GRCm39) |
V30A |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,783,158 (GRCm39) |
F721I |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,881,581 (GRCm39) |
D70G |
possibly damaging |
Het |
| Prl7d1 |
A |
T |
13: 27,893,365 (GRCm39) |
I182N |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,922 (GRCm39) |
K49R |
probably benign |
Het |
| Rps6 |
A |
T |
4: 86,775,046 (GRCm39) |
D19E |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,435,292 (GRCm39) |
H669L |
probably benign |
Het |
| Svil |
G |
T |
18: 5,056,336 (GRCm39) |
C490F |
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,227 (GRCm39) |
I103T |
probably damaging |
Het |
| Trim10 |
T |
A |
17: 37,187,791 (GRCm39) |
Y336N |
probably damaging |
Het |
| Trim43c |
G |
T |
9: 88,722,752 (GRCm39) |
V133F |
probably damaging |
Het |
| Tvp23a |
A |
G |
16: 10,246,551 (GRCm39) |
L78P |
possibly damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,991 (GRCm39) |
I14L |
probably benign |
Het |
| Unc5a |
A |
C |
13: 55,150,737 (GRCm39) |
M520L |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,337 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r58 |
C |
T |
7: 41,486,913 (GRCm39) |
G661R |
possibly damaging |
Het |
| Vps41 |
A |
C |
13: 19,025,413 (GRCm39) |
D471A |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,013,489 (GRCm39) |
F1818L |
possibly damaging |
Het |
| Zp3 |
G |
A |
5: 136,009,135 (GRCm39) |
E50K |
possibly 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 |
|
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'- ACCATGTTTAATCATGAGCAGCACCT -3'
Sequencing Primer
(F):5'- CACACAATGGATGTCTTCATCTGAC -3'
(R):5'- TCTTTCTTTCTTCGTTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation