Incidental Mutation 'R1887:Ofcc1'
| ID |
209676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
039908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1887 (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: 97.1%
- 3x: 96.1%
- 10x: 93.2%
- 20x: 86.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| 1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
| 4930544D05Rik |
A |
G |
11: 70,507,249 (GRCm39) |
E98G |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,980,768 (GRCm39) |
M90K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,849,769 (GRCm39) |
|
probably null |
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 |
| Akr1c18 |
T |
A |
13: 4,193,287 (GRCm39) |
N126I |
probably benign |
Het |
| Ankmy2 |
T |
A |
12: 36,220,467 (GRCm39) |
M51K |
possibly damaging |
Het |
| Antkmt |
C |
A |
17: 26,010,319 (GRCm39) |
|
probably null |
Het |
| Apc |
A |
G |
18: 34,405,521 (GRCm39) |
E159G |
probably damaging |
Het |
| Arhgef28 |
G |
T |
13: 98,282,081 (GRCm39) |
S4R |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,620,351 (GRCm39) |
T784M |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,862,324 (GRCm39) |
N59D |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,595,861 (GRCm39) |
Y1875C |
probably benign |
Het |
| Capza1 |
A |
T |
3: 104,747,096 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,899 (GRCm39) |
F105L |
probably damaging |
Het |
| Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,462,225 (GRCm39) |
M58K |
probably benign |
Het |
| Comtd1 |
A |
G |
14: 21,897,809 (GRCm39) |
L108P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,788,075 (GRCm39) |
Y401C |
probably damaging |
Het |
| Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,854,073 (GRCm39) |
|
probably null |
Het |
| Eeig1 |
T |
A |
2: 32,450,140 (GRCm39) |
N129K |
possibly damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,221,380 (GRCm39) |
V157A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,878,357 (GRCm39) |
I3375F |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,551 (GRCm39) |
E197G |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,696,984 (GRCm39) |
|
probably null |
Het |
| Gbp2b |
A |
G |
3: 142,314,063 (GRCm39) |
T448A |
probably benign |
Het |
| Gpatch1 |
A |
T |
7: 35,002,813 (GRCm39) |
N232K |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,599,113 (GRCm39) |
R128G |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,924,623 (GRCm39) |
I435V |
probably benign |
Het |
| Hmgxb3 |
A |
G |
18: 61,270,473 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,785 (GRCm39) |
D231E |
possibly damaging |
Het |
| Irag1 |
A |
G |
7: 110,523,740 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
T |
A |
1: 140,511,985 (GRCm39) |
S1023T |
probably damaging |
Het |
| Klc2 |
A |
G |
19: 5,158,640 (GRCm39) |
V618A |
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,485 (GRCm39) |
D221G |
probably damaging |
Het |
| Mdn1 |
G |
C |
4: 32,742,540 (GRCm39) |
R3926P |
probably damaging |
Het |
| Med24 |
A |
G |
11: 98,609,642 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,098 (GRCm39) |
L869Q |
probably damaging |
Het |
| Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
| Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,116,909 (GRCm39) |
V211D |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,290,729 (GRCm39) |
M433K |
possibly damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
| Or8k22 |
A |
G |
2: 86,163,617 (GRCm39) |
F28L |
possibly damaging |
Het |
| Pdlim7 |
C |
T |
13: 55,653,981 (GRCm39) |
G212D |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,737,091 (GRCm39) |
I902F |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,468,517 (GRCm39) |
T198A |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,499 (GRCm39) |
V3641A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
| Rpl37 |
C |
T |
15: 5,148,072 (GRCm39) |
T83M |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
| Serinc5 |
A |
T |
13: 92,838,214 (GRCm39) |
D340V |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,213,808 (GRCm39) |
I346V |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,106 (GRCm39) |
S281L |
probably benign |
Het |
| Tcstv2a |
G |
T |
13: 120,725,604 (GRCm39) |
K89N |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,193,094 (GRCm39) |
T447A |
possibly damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,874 (GRCm39) |
F592L |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
| Trip4 |
T |
A |
9: 65,782,163 (GRCm39) |
I190F |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,720,044 (GRCm39) |
S872T |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,871 (GRCm39) |
L419P |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,132,177 (GRCm39) |
Q800K |
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,007 (GRCm39) |
I298T |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,288 (GRCm39) |
T320A |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
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 |
|
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'- TTGCAATAGGGTTGGAATAGATAGAT -3'
(R):5'- TGTATTAGGGGCCTCAAGGAC -3'
Sequencing Primer
(F):5'- CAAAGACAGAGAGACAGATAGACC -3'
(R):5'- AGGACAAGGCTCCCCAAGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation