Incidental Mutation 'R7325:Cfap91'
ID |
596107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap91
|
Ensembl Gene |
ENSMUSG00000022805 |
Gene Name |
cilia and flagella associated protein 91 |
Synonyms |
4932425I24Rik, Spata26, Maats1 |
MMRRC Submission |
045419-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7325 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 38141963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
AlphaFold |
Q8BRC6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023501
|
SMART Domains |
Protein: ENSMUSP00000023501 Gene: ENSMUSG00000022805
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 benign
Transcript: ENSMUST00000114740
|
SMART Domains |
Protein: ENSMUSP00000110388 Gene: ENSMUSG00000022805
Domain | Start | End | E-Value | Type |
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
A |
1: 25,571,711 (GRCm39) |
Q402L |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,869,917 (GRCm39) |
T638A |
probably benign |
Het |
Agtr1a |
A |
C |
13: 30,565,890 (GRCm39) |
K318N |
possibly damaging |
Het |
Anks1b |
A |
G |
10: 90,777,294 (GRCm39) |
T1095A |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,559,637 (GRCm39) |
I207N |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,620,599 (GRCm39) |
L484P |
possibly damaging |
Het |
Astn2 |
C |
T |
4: 65,460,906 (GRCm39) |
S1076N |
probably benign |
Het |
Baat |
C |
A |
4: 49,490,213 (GRCm39) |
L290F |
probably benign |
Het |
Boll |
T |
C |
1: 55,343,757 (GRCm39) |
Y222C |
probably damaging |
Het |
Bphl |
A |
T |
13: 34,234,324 (GRCm39) |
I147F |
possibly damaging |
Het |
Cadps2 |
T |
G |
6: 23,409,934 (GRCm39) |
D766A |
unknown |
Het |
Cd300lb |
T |
A |
11: 114,815,858 (GRCm39) |
K210M |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,185 (GRCm39) |
Q797R |
probably benign |
Het |
Celsr1 |
T |
A |
15: 85,917,209 (GRCm39) |
S255C |
probably damaging |
Het |
Cip2a |
T |
A |
16: 48,826,184 (GRCm39) |
M417K |
probably benign |
Het |
Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
Dennd5b |
T |
A |
6: 148,922,068 (GRCm39) |
K815N |
probably benign |
Het |
Exd1 |
A |
G |
2: 119,350,620 (GRCm39) |
V547A |
probably benign |
Het |
Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
Fip1l1 |
A |
G |
5: 74,697,460 (GRCm39) |
|
probably null |
Het |
Flg2 |
T |
A |
3: 93,110,679 (GRCm39) |
N902K |
unknown |
Het |
Fyttd1 |
T |
A |
16: 32,704,618 (GRCm39) |
N76K |
probably benign |
Het |
Gins1 |
T |
A |
2: 150,758,086 (GRCm39) |
D57E |
probably benign |
Het |
Gm5565 |
G |
C |
5: 146,095,171 (GRCm39) |
|
probably null |
Het |
Gpsm2 |
T |
C |
3: 108,610,244 (GRCm39) |
Y72C |
probably damaging |
Het |
Hace1 |
C |
A |
10: 45,465,603 (GRCm39) |
S53* |
probably null |
Het |
Insig2 |
A |
G |
1: 121,234,666 (GRCm39) |
V188A |
possibly damaging |
Het |
Ism1 |
T |
C |
2: 139,598,963 (GRCm39) |
V312A |
probably damaging |
Het |
Jmy |
A |
T |
13: 93,609,251 (GRCm39) |
Y353N |
probably damaging |
Het |
Maz |
A |
C |
7: 126,624,725 (GRCm39) |
V265G |
probably benign |
Het |
Mtmr14 |
T |
A |
6: 113,246,509 (GRCm39) |
I426N |
probably damaging |
Het |
Or1e34 |
C |
T |
11: 73,779,101 (GRCm39) |
M32I |
probably benign |
Het |
Or5b113 |
A |
G |
19: 13,342,001 (GRCm39) |
E3G |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,278,413 (GRCm39) |
N464K |
probably damaging |
Het |
Pcdhb7 |
T |
A |
18: 37,476,440 (GRCm39) |
H525Q |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Podn |
C |
T |
4: 107,874,899 (GRCm39) |
|
probably null |
Het |
Prim1 |
A |
G |
10: 127,858,788 (GRCm39) |
D232G |
probably null |
Het |
Prrt1 |
T |
A |
17: 34,851,161 (GRCm39) |
M283K |
possibly damaging |
Het |
Rgs9 |
A |
T |
11: 109,167,407 (GRCm39) |
I65N |
probably damaging |
Het |
Scgb2b26 |
C |
A |
7: 33,643,782 (GRCm39) |
V53L |
probably benign |
Het |
Shank2 |
C |
A |
7: 143,965,422 (GRCm39) |
P1010Q |
probably benign |
Het |
Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
Slc17a6 |
G |
T |
7: 51,294,766 (GRCm39) |
A158S |
probably damaging |
Het |
Slc9a9 |
C |
T |
9: 94,594,951 (GRCm39) |
H154Y |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,934,951 (GRCm39) |
K379E |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,962,948 (GRCm39) |
|
probably null |
Het |
Snapc3 |
T |
C |
4: 83,353,507 (GRCm39) |
I182T |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,470,260 (GRCm39) |
V856A |
probably benign |
Het |
Tep1 |
T |
A |
14: 51,103,495 (GRCm39) |
N265I |
probably damaging |
Het |
Tespa1 |
A |
T |
10: 130,197,910 (GRCm39) |
N311Y |
probably damaging |
Het |
Tpmt |
G |
A |
13: 47,194,960 (GRCm39) |
Q14* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,228,952 (GRCm39) |
F353L |
possibly damaging |
Het |
Upp1 |
T |
C |
11: 9,084,743 (GRCm39) |
V154A |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,369,052 (GRCm39) |
I1747T |
|
Het |
Vmn1r47 |
T |
C |
6: 89,999,254 (GRCm39) |
S129P |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,524,249 (GRCm39) |
Y81C |
probably benign |
Het |
Ybx2 |
A |
T |
11: 69,831,181 (GRCm39) |
T259S |
probably benign |
Het |
Zfp536 |
T |
C |
7: 37,179,285 (GRCm39) |
T1107A |
probably benign |
Het |
Zfp583 |
C |
T |
7: 6,319,585 (GRCm39) |
A476T |
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 |
R7271:Cfap91
|
UTSW |
16 |
38,148,708 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTGTTGTCTGGGAAACGGCC -3'
(R):5'- CTGTGACGGGGAATCTCAAAC -3'
Sequencing Primer
(F):5'- TCTGGGAAACGGCCAAGGC -3'
(R):5'- CGGGGAATCTCAAACGTGTGTG -3'
|
Posted On |
2019-11-18 |