Incidental Mutation 'R2255:Ofcc1'
| ID |
241976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| MMRRC Submission |
040255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
40155358-40514926 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 40248181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 651
(L651R)
|
| 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: L651R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: L651R
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
A |
17: 46,616,561 (GRCm39) |
T1210I |
probably benign |
Het |
| Agbl1 |
T |
C |
7: 76,071,932 (GRCm39) |
F581S |
probably damaging |
Het |
| Ambra1 |
A |
T |
2: 91,747,806 (GRCm39) |
N1061Y |
probably damaging |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,891 (GRCm39) |
R272H |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,361 (GRCm39) |
L132S |
probably damaging |
Het |
| Atp10b |
G |
A |
11: 43,125,207 (GRCm39) |
V1058I |
probably damaging |
Het |
| B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,815 (GRCm39) |
I310N |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,060,143 (GRCm39) |
L535* |
probably null |
Het |
| Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
| Catip |
T |
C |
1: 74,408,159 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,921,996 (GRCm39) |
S1023R |
probably damaging |
Het |
| Ces2g |
G |
A |
8: 105,694,046 (GRCm39) |
E461K |
probably damaging |
Het |
| Chad |
C |
A |
11: 94,456,523 (GRCm39) |
H200Q |
possibly damaging |
Het |
| Crbn |
C |
T |
6: 106,772,159 (GRCm39) |
|
probably null |
Het |
| Crip3 |
G |
C |
17: 46,740,298 (GRCm39) |
E33Q |
probably damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,040,894 (GRCm39) |
R105S |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 49,979,706 (GRCm39) |
H114Y |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,968,347 (GRCm39) |
N242D |
probably benign |
Het |
| Dtx3l |
T |
C |
16: 35,756,949 (GRCm39) |
N78S |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 6,955,905 (GRCm39) |
|
probably null |
Het |
| Esrp1 |
A |
G |
4: 11,365,211 (GRCm39) |
V260A |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,349 (GRCm39) |
V544A |
probably benign |
Het |
| Ezhip |
T |
G |
X: 5,994,754 (GRCm39) |
E87A |
probably benign |
Het |
| Fcgr1 |
G |
T |
3: 96,193,233 (GRCm39) |
H255N |
possibly damaging |
Het |
| Fcrl2 |
G |
T |
3: 87,164,655 (GRCm39) |
Y290* |
probably null |
Het |
| Frem2 |
A |
G |
3: 53,559,935 (GRCm39) |
V1524A |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,382,758 (GRCm39) |
I817T |
probably damaging |
Het |
| Gapdhs |
G |
C |
7: 30,429,333 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
A |
G |
3: 36,074,099 (GRCm39) |
V350A |
probably benign |
Het |
| Gopc |
A |
T |
10: 52,225,181 (GRCm39) |
I356K |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,005,628 (GRCm39) |
V49A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,554,857 (GRCm39) |
N1634K |
probably damaging |
Het |
| Gria1 |
G |
A |
11: 57,076,775 (GRCm39) |
R57H |
probably damaging |
Het |
| Herpud1 |
A |
G |
8: 95,121,241 (GRCm39) |
E344G |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,810 (GRCm39) |
F167L |
probably damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,209 (GRCm39) |
D84E |
probably damaging |
Het |
| Ier3 |
A |
G |
17: 36,133,153 (GRCm39) |
Y145C |
probably damaging |
Het |
| Ifi47 |
A |
T |
11: 48,987,474 (GRCm39) |
I414L |
probably benign |
Het |
| Ifnl2 |
C |
T |
7: 28,209,638 (GRCm39) |
A50T |
possibly damaging |
Het |
| Jade1 |
A |
G |
3: 41,546,185 (GRCm39) |
Y70C |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,359,454 (GRCm39) |
F94L |
probably damaging |
Het |
| Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,523 (GRCm39) |
L26S |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Nae1 |
T |
A |
8: 105,256,700 (GRCm39) |
D69V |
probably damaging |
Het |
| Nbr1 |
T |
A |
11: 101,463,643 (GRCm39) |
V625E |
possibly damaging |
Het |
| Nek1 |
T |
C |
8: 61,542,807 (GRCm39) |
L702P |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,078,689 (GRCm39) |
*272W |
probably null |
Het |
| Olfm3 |
A |
T |
3: 114,915,842 (GRCm39) |
|
probably null |
Het |
| Pcdhb19 |
C |
T |
18: 37,630,997 (GRCm39) |
A264V |
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,493 (GRCm39) |
W780C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,635,863 (GRCm39) |
H489L |
probably benign |
Het |
| Pros1 |
T |
A |
16: 62,723,935 (GRCm39) |
C228S |
possibly damaging |
Het |
| Rbm10 |
G |
A |
X: 20,501,978 (GRCm39) |
R9H |
unknown |
Het |
| Rwdd1 |
T |
C |
10: 33,878,466 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,818,062 (GRCm39) |
V213F |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,004,991 (GRCm39) |
I412T |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,748,438 (GRCm39) |
I98L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,595,203 (GRCm39) |
E394G |
probably damaging |
Het |
| Spdef |
T |
C |
17: 27,939,269 (GRCm39) |
T26A |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,731 (GRCm39) |
I23V |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,818 (GRCm39) |
I56T |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tex46 |
T |
C |
4: 136,337,844 (GRCm39) |
L12P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc5cl |
T |
A |
17: 48,766,974 (GRCm39) |
I116N |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,657,417 (GRCm39) |
I1630F |
possibly damaging |
Het |
| Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
| Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
| Whrn |
C |
T |
4: 63,336,385 (GRCm39) |
V295M |
possibly damaging |
Het |
| Wrn |
G |
A |
8: 33,819,230 (GRCm39) |
P241S |
probably benign |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,917,748 (GRCm39) |
C675S |
probably damaging |
Het |
| Zfp954 |
A |
G |
7: 7,118,321 (GRCm39) |
Y408H |
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 |
|
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 |
|
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'- AGCGTGCCAGGGATTCATATC -3'
(R):5'- CCTGGAATTTGCAATAACGAAAGC -3'
Sequencing Primer
(F):5'- GGGTCTAGAACTGTCCAT -3'
(R):5'- GGTCGTTTTGGCACACTTAGCC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation