Incidental Mutation 'R7271:Cfap91'
ID |
565322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap91
|
Ensembl Gene |
ENSMUSG00000022805 |
Gene Name |
cilia and flagella associated protein 91 |
Synonyms |
4932425I24Rik, Spata26, Maats1 |
MMRRC Submission |
045356-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7271 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38148708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 240
(I240T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
AlphaFold |
Q8BRC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023501
AA Change: I240T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023501 Gene: ENSMUSG00000022805 AA Change: I240T
Domain | Start | End | E-Value | Type |
Pfam:PaaSYMP
|
190 |
342 |
1.4e-65 |
PFAM |
low complexity region
|
413 |
428 |
N/A |
INTRINSIC |
low complexity region
|
513 |
526 |
N/A |
INTRINSIC |
low complexity region
|
599 |
613 |
N/A |
INTRINSIC |
coiled coil region
|
650 |
682 |
N/A |
INTRINSIC |
coiled coil region
|
737 |
763 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114740
AA Change: I240T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110388 Gene: ENSMUSG00000022805 AA Change: I240T
Domain | Start | End | E-Value | Type |
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
C |
T |
10: 42,291,544 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
Alpk3 |
A |
G |
7: 80,728,202 (GRCm39) |
E444G |
possibly damaging |
Het |
Amer2 |
T |
A |
14: 60,617,123 (GRCm39) |
D439E |
possibly damaging |
Het |
Ano6 |
A |
G |
15: 95,811,781 (GRCm39) |
Y222C |
probably damaging |
Het |
Atp4a |
A |
C |
7: 30,421,944 (GRCm39) |
K827Q |
probably benign |
Het |
Atp9a |
G |
A |
2: 168,576,047 (GRCm39) |
|
|
Het |
Casp7 |
T |
A |
19: 56,424,793 (GRCm39) |
C171S |
probably damaging |
Het |
Ccdc9b |
T |
A |
2: 118,591,164 (GRCm39) |
|
probably null |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdkl1 |
A |
G |
12: 69,795,585 (GRCm39) |
L315S |
probably benign |
Het |
Crybg1 |
G |
T |
10: 43,873,619 (GRCm39) |
S1163* |
probably null |
Het |
Csmd1 |
A |
T |
8: 17,077,295 (GRCm39) |
W121R |
probably damaging |
Het |
Cyyr1 |
A |
T |
16: 85,262,493 (GRCm39) |
M88K |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,049,954 (GRCm39) |
Q587R |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,223,750 (GRCm39) |
E1128G |
possibly damaging |
Het |
Dynap |
T |
A |
18: 70,374,320 (GRCm39) |
T69S |
possibly damaging |
Het |
Esr1 |
T |
C |
10: 4,733,874 (GRCm39) |
C225R |
probably damaging |
Het |
Fbxo31 |
C |
T |
8: 122,305,503 (GRCm39) |
|
probably benign |
Het |
Fndc11 |
G |
A |
2: 180,863,893 (GRCm39) |
V233I |
possibly damaging |
Het |
Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,433,758 (GRCm39) |
L223P |
probably benign |
Het |
Ifi214 |
A |
T |
1: 173,357,042 (GRCm39) |
H20Q |
probably damaging |
Het |
Impa2 |
T |
A |
18: 67,439,806 (GRCm39) |
I101N |
probably damaging |
Het |
Kidins220 |
A |
T |
12: 25,061,570 (GRCm39) |
T854S |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,337,423 (GRCm39) |
C385S |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,755,853 (GRCm39) |
S543G |
probably benign |
Het |
Manba |
A |
T |
3: 135,248,137 (GRCm39) |
Y342F |
probably damaging |
Het |
Map3k1 |
T |
C |
13: 111,893,231 (GRCm39) |
D758G |
probably benign |
Het |
Mtor |
G |
T |
4: 148,630,942 (GRCm39) |
A2300S |
possibly damaging |
Het |
Musk |
T |
A |
4: 58,373,409 (GRCm39) |
M793K |
probably damaging |
Het |
Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
Or10ab4 |
G |
A |
7: 107,654,423 (GRCm39) |
R78Q |
probably damaging |
Het |
Or10ag55-ps1 |
T |
A |
2: 87,114,725 (GRCm39) |
N30K |
probably benign |
Het |
Or4k77 |
A |
G |
2: 111,199,693 (GRCm39) |
T239A |
probably damaging |
Het |
Or8g21 |
A |
T |
9: 38,905,953 (GRCm39) |
Y259* |
probably null |
Het |
Pcdh12 |
C |
A |
18: 38,416,100 (GRCm39) |
V342F |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,441,222 (GRCm39) |
H177Q |
possibly damaging |
Het |
Pcnx2 |
G |
A |
8: 126,613,690 (GRCm39) |
A587V |
probably benign |
Het |
Phkb |
C |
T |
8: 86,770,418 (GRCm39) |
P896S |
probably damaging |
Het |
Prss36 |
A |
G |
7: 127,543,877 (GRCm39) |
S165P |
probably benign |
Het |
Prss43 |
A |
G |
9: 110,657,671 (GRCm39) |
D190G |
probably damaging |
Het |
Psmd14 |
T |
C |
2: 61,591,356 (GRCm39) |
V53A |
probably damaging |
Het |
Sel1l3 |
T |
G |
5: 53,273,704 (GRCm39) |
H1054P |
probably damaging |
Het |
Selenoh |
T |
C |
2: 84,500,631 (GRCm39) |
R70G |
probably damaging |
Het |
Serpinb9d |
A |
G |
13: 33,378,617 (GRCm39) |
Q21R |
probably benign |
Het |
Slc29a1 |
T |
C |
17: 45,899,288 (GRCm39) |
E262G |
probably benign |
Het |
Slc7a14 |
A |
G |
3: 31,278,384 (GRCm39) |
L407P |
probably damaging |
Het |
Smyd4 |
T |
C |
11: 75,281,325 (GRCm39) |
V266A |
possibly damaging |
Het |
Spata31d1a |
T |
A |
13: 59,849,913 (GRCm39) |
R738S |
probably benign |
Het |
Speer4a2 |
G |
A |
5: 26,292,993 (GRCm39) |
T67I |
probably benign |
Het |
Srcin1 |
C |
T |
11: 97,442,715 (GRCm39) |
G38S |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,838,972 (GRCm39) |
|
probably null |
Het |
Syde2 |
A |
G |
3: 145,726,031 (GRCm39) |
N1308D |
possibly damaging |
Het |
Trip11 |
A |
T |
12: 101,850,611 (GRCm39) |
M1151K |
probably damaging |
Het |
Ttll4 |
A |
T |
1: 74,727,820 (GRCm39) |
I861F |
possibly damaging |
Het |
Zfp319 |
G |
A |
8: 96,058,471 (GRCm39) |
|
probably benign |
Het |
Zfp518b |
T |
C |
5: 38,831,907 (GRCm39) |
N33D |
probably benign |
Het |
Zfp874a |
T |
A |
13: 67,591,415 (GRCm39) |
I90F |
probably benign |
Het |
Zmiz2 |
G |
T |
11: 6,349,593 (GRCm39) |
V412L |
probably damaging |
Het |
|
Other mutations in Cfap91 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Cfap91
|
APN |
16 |
38,156,704 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02243:Cfap91
|
APN |
16 |
38,162,142 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02377:Cfap91
|
APN |
16 |
38,153,181 (GRCm39) |
splice site |
probably benign |
|
IGL02604:Cfap91
|
APN |
16 |
38,141,921 (GRCm39) |
unclassified |
probably benign |
|
IGL02623:Cfap91
|
APN |
16 |
38,154,140 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02985:Cfap91
|
APN |
16 |
38,118,634 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Cfap91
|
APN |
16 |
38,144,498 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4280001:Cfap91
|
UTSW |
16 |
38,153,135 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4449001:Cfap91
|
UTSW |
16 |
38,148,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Cfap91
|
UTSW |
16 |
38,123,046 (GRCm39) |
nonsense |
probably null |
|
R0076:Cfap91
|
UTSW |
16 |
38,123,046 (GRCm39) |
nonsense |
probably null |
|
R0360:Cfap91
|
UTSW |
16 |
38,118,659 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0501:Cfap91
|
UTSW |
16 |
38,155,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Cfap91
|
UTSW |
16 |
38,148,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Cfap91
|
UTSW |
16 |
38,155,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R0900:Cfap91
|
UTSW |
16 |
38,156,764 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1218:Cfap91
|
UTSW |
16 |
38,118,495 (GRCm39) |
missense |
probably benign |
|
R1499:Cfap91
|
UTSW |
16 |
38,141,762 (GRCm39) |
missense |
probably damaging |
0.96 |
R1693:Cfap91
|
UTSW |
16 |
38,162,085 (GRCm39) |
missense |
probably benign |
|
R1793:Cfap91
|
UTSW |
16 |
38,141,781 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1854:Cfap91
|
UTSW |
16 |
38,144,659 (GRCm39) |
splice site |
probably null |
|
R2007:Cfap91
|
UTSW |
16 |
38,118,616 (GRCm39) |
missense |
probably benign |
0.02 |
R2126:Cfap91
|
UTSW |
16 |
38,162,124 (GRCm39) |
missense |
probably benign |
0.19 |
R2443:Cfap91
|
UTSW |
16 |
38,123,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R2857:Cfap91
|
UTSW |
16 |
38,123,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Cfap91
|
UTSW |
16 |
38,131,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3441:Cfap91
|
UTSW |
16 |
38,154,168 (GRCm39) |
missense |
probably benign |
0.03 |
R3442:Cfap91
|
UTSW |
16 |
38,154,168 (GRCm39) |
missense |
probably benign |
0.03 |
R4056:Cfap91
|
UTSW |
16 |
38,118,576 (GRCm39) |
missense |
probably benign |
|
R4057:Cfap91
|
UTSW |
16 |
38,118,576 (GRCm39) |
missense |
probably benign |
|
R4424:Cfap91
|
UTSW |
16 |
38,140,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4493:Cfap91
|
UTSW |
16 |
38,162,130 (GRCm39) |
missense |
probably benign |
0.00 |
R4546:Cfap91
|
UTSW |
16 |
38,155,885 (GRCm39) |
missense |
probably benign |
0.11 |
R5177:Cfap91
|
UTSW |
16 |
38,152,683 (GRCm39) |
missense |
probably benign |
0.00 |
R5496:Cfap91
|
UTSW |
16 |
38,141,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R5868:Cfap91
|
UTSW |
16 |
38,152,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Cfap91
|
UTSW |
16 |
38,148,672 (GRCm39) |
missense |
probably damaging |
0.97 |
R6165:Cfap91
|
UTSW |
16 |
38,154,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6521:Cfap91
|
UTSW |
16 |
38,127,121 (GRCm39) |
missense |
probably benign |
0.06 |
R6804:Cfap91
|
UTSW |
16 |
38,152,604 (GRCm39) |
missense |
probably damaging |
0.97 |
R7086:Cfap91
|
UTSW |
16 |
38,127,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7202:Cfap91
|
UTSW |
16 |
38,155,959 (GRCm39) |
missense |
probably benign |
0.00 |
R7325:Cfap91
|
UTSW |
16 |
38,141,963 (GRCm39) |
splice site |
probably null |
|
R7375:Cfap91
|
UTSW |
16 |
38,155,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R7453:Cfap91
|
UTSW |
16 |
38,141,841 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7604:Cfap91
|
UTSW |
16 |
38,118,598 (GRCm39) |
nonsense |
probably null |
|
R8040:Cfap91
|
UTSW |
16 |
38,140,733 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8702:Cfap91
|
UTSW |
16 |
38,152,674 (GRCm39) |
missense |
probably benign |
0.00 |
R9012:Cfap91
|
UTSW |
16 |
38,122,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R9164:Cfap91
|
UTSW |
16 |
38,155,960 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9566:Cfap91
|
UTSW |
16 |
38,155,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R9749:Cfap91
|
UTSW |
16 |
38,128,487 (GRCm39) |
missense |
probably damaging |
0.99 |
X0062:Cfap91
|
UTSW |
16 |
38,118,461 (GRCm39) |
missense |
possibly damaging |
0.70 |
X0067:Cfap91
|
UTSW |
16 |
38,127,222 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGTGTGTACACCCATGAG -3'
(R):5'- CTAAAACAATGTCTGCCTCAGTAAGAG -3'
Sequencing Primer
(F):5'- TGTGTACACCCATGAGCCCAG -3'
(R):5'- CACGAAGGCCACATGCTAGTTTTG -3'
|
Posted On |
2019-06-26 |