Incidental Mutation 'R5512:Ofcc1'
| ID |
440128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ofcc1
|
| Ensembl Gene |
ENSMUSG00000047094 |
| Gene Name |
orofacial cleft 1 candidate 1 |
| Synonyms |
Opo, ojoplano |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5512 (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 T
at 40360286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 248
(Q248K)
|
| 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: Q248K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000062217
Gene: ENSMUSG00000047094
AA Change: Q248K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,389 (GRCm39) |
V364A |
possibly damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Adgre5 |
T |
C |
8: 84,455,715 (GRCm39) |
N198D |
probably benign |
Het |
| Adgrf4 |
G |
T |
17: 42,978,176 (GRCm39) |
T389K |
probably benign |
Het |
| Apc |
T |
A |
18: 34,443,962 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,441,682 (GRCm39) |
I524F |
probably damaging |
Het |
| Arhgef37 |
G |
A |
18: 61,632,845 (GRCm39) |
Q531* |
probably null |
Het |
| Atp7b |
T |
C |
8: 22,502,755 (GRCm39) |
T694A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,334,968 (GRCm39) |
I780F |
probably damaging |
Het |
| Calcoco2 |
T |
C |
11: 95,994,162 (GRCm39) |
K95E |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,870 (GRCm39) |
D388G |
possibly damaging |
Het |
| Ccdc150 |
A |
C |
1: 54,393,806 (GRCm39) |
E690A |
probably damaging |
Het |
| Cdc73 |
G |
T |
1: 143,578,354 (GRCm39) |
D3E |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,370,165 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
C |
12: 112,699,919 (GRCm39) |
S143P |
possibly damaging |
Het |
| Cherp |
T |
C |
8: 73,217,110 (GRCm39) |
I607V |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,124,959 (GRCm39) |
H166Q |
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,227,404 (GRCm39) |
V241A |
possibly damaging |
Het |
| Dot1l |
C |
T |
10: 80,624,825 (GRCm39) |
P881S |
possibly damaging |
Het |
| Drgx |
A |
G |
14: 32,322,001 (GRCm39) |
H5R |
probably damaging |
Het |
| Dsg1c |
A |
T |
18: 20,405,568 (GRCm39) |
N327I |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,862,216 (GRCm39) |
R182H |
probably damaging |
Het |
| Fkbp1b |
A |
T |
12: 4,888,183 (GRCm39) |
V24E |
probably benign |
Het |
| Fut11 |
T |
C |
14: 20,746,069 (GRCm39) |
S304P |
probably damaging |
Het |
| Ggt1 |
C |
T |
10: 75,420,718 (GRCm39) |
T361I |
probably damaging |
Het |
| Gimap7 |
G |
T |
6: 48,700,530 (GRCm39) |
A39S |
probably benign |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gm17541 |
G |
T |
12: 4,739,452 (GRCm39) |
|
probably benign |
Het |
| Gmip |
T |
A |
8: 70,270,540 (GRCm39) |
V750E |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,585,492 (GRCm39) |
E290G |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,022,398 (GRCm39) |
V176A |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,795,865 (GRCm39) |
K447R |
probably benign |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,521 (GRCm39) |
Y157H |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,811,884 (GRCm39) |
Q706* |
probably null |
Het |
| Krt222 |
A |
C |
11: 99,125,781 (GRCm39) |
S283R |
probably damaging |
Het |
| Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
| Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,526 (GRCm39) |
I536F |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,160,315 (GRCm39) |
D207G |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,222,040 (GRCm39) |
M1V |
probably null |
Het |
| Ncam1 |
A |
T |
9: 49,420,999 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,955,481 (GRCm39) |
P425L |
possibly damaging |
Het |
| Nol8 |
A |
G |
13: 49,830,263 (GRCm39) |
S1116G |
probably benign |
Het |
| Nrde2 |
G |
T |
12: 100,108,509 (GRCm39) |
Q361K |
probably benign |
Het |
| Nudt13 |
G |
A |
14: 20,357,800 (GRCm39) |
G133D |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,258,787 (GRCm39) |
D345G |
probably benign |
Het |
| Or2t6 |
C |
A |
14: 14,175,633 (GRCm38) |
G150C |
probably damaging |
Het |
| Or4k41 |
G |
A |
2: 111,280,099 (GRCm39) |
V205I |
probably benign |
Het |
| Osbpl3 |
T |
G |
6: 50,286,340 (GRCm39) |
K659N |
probably damaging |
Het |
| Pdk2 |
G |
A |
11: 94,930,292 (GRCm39) |
T48M |
probably damaging |
Het |
| Phf11a |
A |
T |
14: 59,524,999 (GRCm39) |
D68E |
probably benign |
Het |
| Purb |
A |
G |
11: 6,425,702 (GRCm39) |
V62A |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,557,805 (GRCm39) |
E1345K |
unknown |
Het |
| Sema3e |
G |
A |
5: 14,280,194 (GRCm39) |
A358T |
probably damaging |
Het |
| Slc29a2 |
A |
G |
19: 5,076,426 (GRCm39) |
I105V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc6a5 |
G |
A |
7: 49,591,573 (GRCm39) |
V513I |
probably damaging |
Het |
| Slco4a1 |
T |
A |
2: 180,115,907 (GRCm39) |
F681Y |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,339,445 (GRCm39) |
N775S |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,432,605 (GRCm39) |
V827D |
probably damaging |
Het |
| Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,657,728 (GRCm39) |
C238S |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,645,517 (GRCm39) |
Y111N |
probably damaging |
Het |
| Tnks1bp1 |
C |
A |
2: 84,893,178 (GRCm39) |
P373Q |
probably benign |
Het |
| Tnpo3 |
A |
G |
6: 29,575,045 (GRCm39) |
L373P |
probably damaging |
Het |
| Unc45b |
A |
C |
11: 82,805,898 (GRCm39) |
D135A |
possibly damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,481,677 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,149 (GRCm39) |
I85M |
probably damaging |
Het |
| Vmn2r80 |
T |
G |
10: 79,004,066 (GRCm39) |
L93W |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,650,850 (GRCm39) |
|
probably benign |
Het |
| Ythdf3 |
A |
G |
3: 16,238,086 (GRCm39) |
R9G |
probably damaging |
Het |
| Zfp229 |
A |
G |
17: 21,964,017 (GRCm39) |
|
probably null |
Het |
| Zfp958 |
A |
C |
8: 4,675,838 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACCACAGAAACGCTTTCATGG -3'
(R):5'- CAGACGTGTTGGATTCCAGC -3'
Sequencing Primer
(F):5'- CGCTTTCATGGAAATAGAGCC -3'
(R):5'- CAGACGTGTTGGATTCCAGCTAATTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation