Incidental Mutation 'R0055:Cfap96'
ID |
16016 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap96
|
Ensembl Gene |
ENSMUSG00000071103 |
Gene Name |
cilia and flagella associated protein 96 |
Synonyms |
1700029J07Rik |
MMRRC Submission |
038349-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R0055 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46406643-46428477 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46421198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 108
(S108R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096383
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095323]
[ENSMUST00000098786]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095323
AA Change: S108R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092961 Gene: ENSMUSG00000071103 AA Change: S108R
Domain | Start | End | E-Value | Type |
Pfam:DUF4586
|
7 |
297 |
1.2e-110 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098786
AA Change: S108R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096383 Gene: ENSMUSG00000071103 AA Change: S108R
Domain | Start | End | E-Value | Type |
Pfam:DUF4586
|
8 |
294 |
6.8e-114 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
Validation Efficiency |
85% (52/61) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
probably damaging |
Het |
|
Other mutations in Cfap96 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01335:Cfap96
|
APN |
8 |
46,426,642 (GRCm39) |
unclassified |
probably benign |
|
D4043:Cfap96
|
UTSW |
8 |
46,409,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Cfap96
|
UTSW |
8 |
46,421,198 (GRCm39) |
missense |
probably damaging |
0.99 |
R0894:Cfap96
|
UTSW |
8 |
46,409,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Cfap96
|
UTSW |
8 |
46,409,515 (GRCm39) |
missense |
probably benign |
0.19 |
R4513:Cfap96
|
UTSW |
8 |
46,421,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Cfap96
|
UTSW |
8 |
46,423,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R4601:Cfap96
|
UTSW |
8 |
46,423,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R4602:Cfap96
|
UTSW |
8 |
46,423,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R4603:Cfap96
|
UTSW |
8 |
46,423,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R4610:Cfap96
|
UTSW |
8 |
46,423,505 (GRCm39) |
missense |
probably damaging |
0.99 |
R4734:Cfap96
|
UTSW |
8 |
46,423,454 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4829:Cfap96
|
UTSW |
8 |
46,420,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Cfap96
|
UTSW |
8 |
46,415,373 (GRCm39) |
missense |
probably benign |
0.04 |
R7031:Cfap96
|
UTSW |
8 |
46,421,140 (GRCm39) |
missense |
probably benign |
0.02 |
R7032:Cfap96
|
UTSW |
8 |
46,409,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7177:Cfap96
|
UTSW |
8 |
46,423,444 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7488:Cfap96
|
UTSW |
8 |
46,415,331 (GRCm39) |
missense |
probably benign |
|
R7611:Cfap96
|
UTSW |
8 |
46,423,488 (GRCm39) |
missense |
probably damaging |
0.96 |
R7877:Cfap96
|
UTSW |
8 |
46,423,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R9127:Cfap96
|
UTSW |
8 |
46,415,403 (GRCm39) |
missense |
probably benign |
0.37 |
R9495:Cfap96
|
UTSW |
8 |
46,409,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-01-08 |