Incidental Mutation 'R1186:Ofcc1'
| ID |
102177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
039258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1186 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
40001882-40361450 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40208829 bp (GRCm38)
|
| 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: 99.5%
- 3x: 98.5%
- 10x: 95.7%
- 20x: 90.1%
|
| Validation Efficiency |
97% (69/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
G |
A |
10: 21,621,652 (GRCm38) |
R64Q |
probably benign |
Het |
| 4932438A13Rik |
T |
C |
3: 36,996,312 (GRCm38) |
|
probably benign |
Het |
| 9530068E07Rik |
G |
A |
11: 52,403,078 (GRCm38) |
V49I |
probably benign |
Het |
| A2m |
T |
C |
6: 121,661,534 (GRCm38) |
S902P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,470,549 (GRCm38) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,388,509 (GRCm38) |
T1395A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,294,341 (GRCm38) |
|
probably null |
Het |
| Ank3 |
G |
T |
10: 69,867,460 (GRCm38) |
A308S |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,404,269 (GRCm38) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,736,309 (GRCm38) |
D769G |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,875,376 (GRCm38) |
S2017P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,875,994 (GRCm38) |
I2704F |
unknown |
Het |
| Crip2 |
G |
A |
12: 113,144,959 (GRCm38) |
|
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 32,916,786 (GRCm38) |
I34V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,754,629 (GRCm38) |
|
probably null |
Het |
| Ddx5 |
T |
C |
11: 106,783,979 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,515,700 (GRCm38) |
L572Q |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,304,039 (GRCm38) |
A527T |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,785,174 (GRCm38) |
D261G |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,530,586 (GRCm38) |
F468L |
probably damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,533,405 (GRCm38) |
|
probably benign |
Het |
| Galnt17 |
G |
T |
5: 131,111,742 (GRCm38) |
T179K |
probably damaging |
Het |
| Gm6768 |
A |
C |
12: 119,261,471 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6899 |
C |
T |
11: 26,593,685 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
T |
A |
2: 181,231,128 (GRCm38) |
R2433W |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,814,723 (GRCm38) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,200,460 (GRCm38) |
D229N |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,672,326 (GRCm38) |
L225P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,694,583 (GRCm38) |
I195T |
probably benign |
Het |
| Isyna1 |
C |
A |
8: 70,595,201 (GRCm38) |
N115K |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,078,008 (GRCm38) |
F75S |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,700,894 (GRCm38) |
D101G |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,878,269 (GRCm38) |
T243A |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,759,403 (GRCm38) |
V48A |
probably benign |
Het |
| Mcpt2 |
C |
T |
14: 56,043,945 (GRCm38) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,717,757 (GRCm38) |
|
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,564,671 (GRCm38) |
G162S |
probably null |
Het |
| Mtfr2 |
G |
A |
10: 20,352,852 (GRCm38) |
C48Y |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,161,981 (GRCm38) |
A516T |
possibly damaging |
Het |
| Naip2 |
AGGG |
AGG |
13: 100,162,037 (GRCm38) |
|
probably null |
Het |
| Nup107 |
A |
C |
10: 117,777,146 (GRCm38) |
Y292* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,650,024 (GRCm38) |
|
probably benign |
Het |
| Nxpe4 |
A |
C |
9: 48,393,392 (GRCm38) |
N260H |
probably benign |
Het |
| Olfr1084 |
A |
T |
2: 86,639,463 (GRCm38) |
L82M |
probably damaging |
Het |
| Olfr5 |
T |
C |
7: 6,480,542 (GRCm38) |
I205V |
probably benign |
Het |
| Olfr901 |
T |
C |
9: 38,431,101 (GRCm38) |
V273A |
possibly damaging |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,157 (GRCm38) |
S142P |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,670,451 (GRCm38) |
Y299H |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,026,138 (GRCm38) |
E401V |
probably damaging |
Het |
| Rbm34 |
C |
A |
8: 126,965,447 (GRCm38) |
E182* |
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Senp2 |
T |
C |
16: 22,011,504 (GRCm38) |
S38P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,164,231 (GRCm38) |
|
probably null |
Het |
| Spred1 |
A |
T |
2: 117,177,697 (GRCm38) |
R361S |
possibly damaging |
Het |
| Spry2 |
A |
G |
14: 105,892,907 (GRCm38) |
C282R |
probably damaging |
Het |
| Srp54b |
T |
C |
12: 55,255,528 (GRCm38) |
|
probably benign |
Het |
| Taar8c |
G |
C |
10: 24,101,565 (GRCm38) |
Y116* |
probably null |
Het |
| Tchh |
C |
G |
3: 93,448,046 (GRCm38) |
R1598G |
unknown |
Het |
| Tex15 |
A |
G |
8: 33,571,633 (GRCm38) |
M364V |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,467,131 (GRCm38) |
R662G |
probably damaging |
Het |
| Ttc5 |
G |
A |
14: 50,767,226 (GRCm38) |
Q374* |
probably null |
Het |
| Usp46 |
C |
T |
5: 74,002,122 (GRCm38) |
A312T |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,835,626 (GRCm38) |
L34Q |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,893,892 (GRCm38) |
R122* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,565,067 (GRCm38) |
M78L |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,209,448 (GRCm38) |
I2012N |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,702,083 (GRCm38) |
G461S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,263,949 (GRCm38) |
L161F |
probably damaging |
Het |
|
| Other mutations in Ofcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Ofcc1
|
APN |
13 |
40,142,804 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL00489:Ofcc1
|
APN |
13 |
40,280,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01952:Ofcc1
|
APN |
13 |
40,280,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02126:Ofcc1
|
APN |
13 |
40,208,775 (GRCm38) |
missense |
probably benign |
|
|
IGL02619:Ofcc1
|
APN |
13 |
40,097,077 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL03069:Ofcc1
|
APN |
13 |
40,072,664 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL03133:Ofcc1
|
APN |
13 |
40,072,768 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL03273:Ofcc1
|
APN |
13 |
40,180,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03343:Ofcc1
|
APN |
13 |
40,072,664 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL03349:Ofcc1
|
APN |
13 |
40,072,752 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL03399:Ofcc1
|
APN |
13 |
40,142,838 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
LCD18:Ofcc1
|
UTSW |
13 |
40,092,967 (GRCm38) |
intron |
probably benign |
|
|
R0122:Ofcc1
|
UTSW |
13 |
40,280,556 (GRCm38) |
splice site |
probably null |
|
|
R0320:Ofcc1
|
UTSW |
13 |
40,206,696 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0386:Ofcc1
|
UTSW |
13 |
40,214,474 (GRCm38) |
nonsense |
probably null |
|
|
R0390:Ofcc1
|
UTSW |
13 |
40,015,313 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0829:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0866:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0945:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0981:Ofcc1
|
UTSW |
13 |
40,072,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1055:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1056:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1187:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1400:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1411:Ofcc1
|
UTSW |
13 |
40,142,787 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1419:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1474:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1636:Ofcc1
|
UTSW |
13 |
40,180,428 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1691:Ofcc1
|
UTSW |
13 |
40,208,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1886:Ofcc1
|
UTSW |
13 |
40,206,624 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1887:Ofcc1
|
UTSW |
13 |
40,206,624 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2176:Ofcc1
|
UTSW |
13 |
40,097,119 (GRCm38) |
missense |
probably benign |
|
|
R2189:Ofcc1
|
UTSW |
13 |
40,180,448 (GRCm38) |
missense |
probably benign |
|
|
R2242:Ofcc1
|
UTSW |
13 |
40,142,787 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2255:Ofcc1
|
UTSW |
13 |
40,094,705 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2471:Ofcc1
|
UTSW |
13 |
40,097,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2863:Ofcc1
|
UTSW |
13 |
40,087,938 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R2863:Ofcc1
|
UTSW |
13 |
40,072,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4366:Ofcc1
|
UTSW |
13 |
40,015,461 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4573:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4574:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4656:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4657:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4673:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4782:Ofcc1
|
UTSW |
13 |
40,001,892 (GRCm38) |
splice site |
probably null |
|
|
R4790:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4823:Ofcc1
|
UTSW |
13 |
40,280,473 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4834:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4840:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4842:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4889:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4919:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4920:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4921:Ofcc1
|
UTSW |
13 |
40,214,517 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4948:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4953:Ofcc1
|
UTSW |
13 |
40,015,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4961:Ofcc1
|
UTSW |
13 |
40,263,559 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5339:Ofcc1
|
UTSW |
13 |
40,087,845 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5512:Ofcc1
|
UTSW |
13 |
40,206,810 (GRCm38) |
missense |
probably benign |
0.20 |
|
R5566:Ofcc1
|
UTSW |
13 |
40,094,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5672:Ofcc1
|
UTSW |
13 |
40,280,429 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5734:Ofcc1
|
UTSW |
13 |
40,087,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5839:Ofcc1
|
UTSW |
13 |
40,280,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5853:Ofcc1
|
UTSW |
13 |
40,206,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5896:Ofcc1
|
UTSW |
13 |
40,180,584 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5909:Ofcc1
|
UTSW |
13 |
40,263,578 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5995:Ofcc1
|
UTSW |
13 |
40,280,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6306:Ofcc1
|
UTSW |
13 |
40,148,576 (GRCm38) |
missense |
probably benign |
|
|
R6460:Ofcc1
|
UTSW |
13 |
40,287,979 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6504:Ofcc1
|
UTSW |
13 |
40,097,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6797:Ofcc1
|
UTSW |
13 |
40,087,947 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7091:Ofcc1
|
UTSW |
13 |
40,072,767 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7098:Ofcc1
|
UTSW |
13 |
40,003,966 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7142:Ofcc1
|
UTSW |
13 |
40,004,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7240:Ofcc1
|
UTSW |
13 |
40,208,841 (GRCm38) |
missense |
probably benign |
|
|
R7589:Ofcc1
|
UTSW |
13 |
40,255,484 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7792:Ofcc1
|
UTSW |
13 |
40,142,826 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7852:Ofcc1
|
UTSW |
13 |
40,180,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7951:Ofcc1
|
UTSW |
13 |
40,280,305 (GRCm38) |
missense |
probably benign |
|
|
R7952:Ofcc1
|
UTSW |
13 |
40,280,305 (GRCm38) |
missense |
probably benign |
|
|
R8751:Ofcc1
|
UTSW |
13 |
40,255,596 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8991:Ofcc1
|
UTSW |
13 |
40,142,801 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9119:Ofcc1
|
UTSW |
13 |
40,180,540 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9290:Ofcc1
|
UTSW |
13 |
40,280,326 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
X0005:Ofcc1
|
UTSW |
13 |
40,280,532 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0005:Ofcc1
|
UTSW |
13 |
40,142,790 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAGCCACACAATGGATGTCTT -3'
(R):5'- ACCATGTTTAATCATGAGCAGCACCTT -3'
Sequencing Primer
(F):5'- CACACAATGGATGTCTTCATCTGAC -3'
(R):5'- TCTTTCTTTCTTCGTTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation