Incidental Mutation 'R4673:Ofcc1'
ID |
348638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ofcc1
|
Ensembl Gene |
ENSMUSG00000047094 |
Gene Name |
orofacial cleft 1 candidate 1 |
Synonyms |
Opo, ojoplano |
MMRRC Submission |
041928-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4673 (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: 95.2%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
C |
8: 25,374,471 (GRCm39) |
E507G |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,277,768 (GRCm39) |
T53I |
probably benign |
Het |
Adam4 |
A |
T |
12: 81,468,535 (GRCm39) |
S29T |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
Alas1 |
G |
T |
9: 106,113,676 (GRCm39) |
P523Q |
probably damaging |
Het |
Aldh3a1 |
A |
G |
11: 61,104,320 (GRCm39) |
D69G |
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,808,620 (GRCm39) |
V1266E |
probably damaging |
Het |
Bcdin3d |
T |
C |
15: 99,368,719 (GRCm39) |
D160G |
probably damaging |
Het |
Btaf1 |
T |
A |
19: 36,955,772 (GRCm39) |
F569I |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,521,956 (GRCm39) |
L1718S |
probably damaging |
Het |
Casd1 |
A |
G |
6: 4,629,975 (GRCm39) |
Y457C |
probably damaging |
Het |
Creb3 |
T |
C |
4: 43,563,192 (GRCm39) |
V97A |
probably benign |
Het |
Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
Fhip1a |
A |
T |
3: 85,638,020 (GRCm39) |
V93D |
probably damaging |
Het |
Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
Gm11565 |
A |
G |
11: 99,806,040 (GRCm39) |
D144G |
probably benign |
Het |
Gpn3 |
A |
G |
5: 122,511,981 (GRCm39) |
Y19C |
probably damaging |
Het |
Gstz1 |
A |
T |
12: 87,208,837 (GRCm39) |
T148S |
probably benign |
Het |
Gtf3c5 |
A |
G |
2: 28,462,236 (GRCm39) |
I282T |
probably benign |
Het |
Hspa2 |
T |
A |
12: 76,452,514 (GRCm39) |
S403T |
possibly damaging |
Het |
Il27 |
G |
A |
7: 126,190,251 (GRCm39) |
T121I |
possibly damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Kctd1 |
T |
A |
18: 15,196,284 (GRCm39) |
|
probably benign |
Het |
Kynu |
A |
G |
2: 43,569,815 (GRCm39) |
T366A |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,841,059 (GRCm39) |
T507I |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,087,105 (GRCm39) |
V124M |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,273,754 (GRCm39) |
H1331L |
probably damaging |
Het |
Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
Myh4 |
T |
C |
11: 67,137,227 (GRCm39) |
F483L |
probably benign |
Het |
Nbeal1 |
A |
C |
1: 60,368,549 (GRCm39) |
K2631N |
probably damaging |
Het |
Ogg1 |
T |
C |
6: 113,304,268 (GRCm39) |
C28R |
probably damaging |
Het |
Or13c7c |
T |
C |
4: 43,836,430 (GRCm39) |
H20R |
probably benign |
Het |
Or5b24 |
G |
A |
19: 12,912,461 (GRCm39) |
A120T |
probably damaging |
Het |
Or5k17 |
C |
T |
16: 58,746,053 (GRCm39) |
V294I |
possibly damaging |
Het |
Or6e1 |
C |
T |
14: 54,519,789 (GRCm39) |
A188T |
possibly damaging |
Het |
Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
Phf14 |
A |
G |
6: 11,992,056 (GRCm39) |
H744R |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,370,787 (GRCm39) |
N263S |
possibly damaging |
Het |
Plcb4 |
A |
G |
2: 135,774,191 (GRCm39) |
T158A |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,737,840 (GRCm39) |
S1615P |
possibly damaging |
Het |
Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
Rgs22 |
T |
A |
15: 36,100,079 (GRCm39) |
Y212F |
probably benign |
Het |
Rnd3 |
G |
A |
2: 51,022,553 (GRCm39) |
A163V |
probably benign |
Het |
Rnf10 |
A |
T |
5: 115,389,148 (GRCm39) |
V315E |
probably damaging |
Het |
Robo2 |
C |
T |
16: 73,701,266 (GRCm39) |
|
probably null |
Het |
Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
Scaf8 |
T |
A |
17: 3,248,260 (GRCm39) |
D1194E |
probably benign |
Het |
Septin12 |
T |
C |
16: 4,809,807 (GRCm39) |
T198A |
probably damaging |
Het |
Shisa2 |
A |
G |
14: 59,867,629 (GRCm39) |
T294A |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,018,628 (GRCm39) |
|
probably null |
Het |
Strbp |
A |
T |
2: 37,535,691 (GRCm39) |
S6T |
probably damaging |
Het |
Syf2 |
A |
G |
4: 134,661,804 (GRCm39) |
E56G |
probably damaging |
Het |
Thap4 |
T |
C |
1: 93,642,588 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,887,580 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
G |
17: 34,891,514 (GRCm39) |
E619G |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
Tspan3 |
G |
A |
9: 56,043,980 (GRCm39) |
R240W |
probably damaging |
Het |
Tut7 |
G |
T |
13: 59,944,659 (GRCm39) |
T658K |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
Ucp1 |
T |
C |
8: 84,021,876 (GRCm39) |
V236A |
probably damaging |
Het |
Usp34 |
TCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCAC |
11: 23,314,480 (GRCm39) |
|
probably benign |
Het |
Zfp940 |
T |
C |
7: 29,544,863 (GRCm39) |
D348G |
probably benign |
Het |
Zpld2 |
G |
A |
4: 133,927,658 (GRCm39) |
A365V |
probably benign |
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 |
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 |
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'- TGGCATCAGGTTTAAGTTCACAC -3'
(R):5'- GTGGAAAATTGACTTTGTTCCTGAC -3'
Sequencing Primer
(F):5'- GGTTTAAGTTCACACATTTAAGAACG -3'
(R):5'- GGCAGTGCACGATTACAT -3'
|
Posted On |
2015-10-08 |