Incidental Mutation 'R0076:Cfap91'
ID |
17980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap91
|
Ensembl Gene |
ENSMUSG00000022805 |
Gene Name |
cilia and flagella associated protein 91 |
Synonyms |
4932425I24Rik, Spata26, Maats1 |
MMRRC Submission |
038363-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0076 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 38123046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 661
(Q661*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
|
AlphaFold |
Q8BRC6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023501
AA Change: Q661*
|
SMART Domains |
Protein: ENSMUSP00000023501 Gene: ENSMUSG00000022805 AA Change: Q661*
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 |
noncoding transcript
Transcript: ENSMUST00000133496
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 89.9%
- 3x: 87.5%
- 10x: 81.6%
- 20x: 72.8%
|
Validation Efficiency |
92% (83/90) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
G |
7: 119,972,908 (GRCm39) |
|
probably benign |
Het |
Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
Ada |
T |
A |
2: 163,569,523 (GRCm39) |
|
probably benign |
Het |
Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
Arhgef38 |
T |
A |
3: 132,866,507 (GRCm39) |
H210L |
possibly damaging |
Het |
Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
Cask |
A |
G |
X: 13,544,513 (GRCm39) |
|
probably benign |
Het |
Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
Cd93 |
T |
C |
2: 148,284,056 (GRCm39) |
D430G |
probably benign |
Het |
Cds1 |
T |
C |
5: 101,965,706 (GRCm39) |
|
probably benign |
Het |
Cerkl |
A |
T |
2: 79,173,633 (GRCm39) |
S259T |
possibly damaging |
Het |
Cog8 |
T |
C |
8: 107,780,765 (GRCm39) |
I164M |
possibly damaging |
Het |
Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
Dcc |
G |
A |
18: 71,454,117 (GRCm39) |
Q1241* |
probably null |
Het |
Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,680,721 (GRCm39) |
|
probably benign |
Het |
Ifitm6 |
T |
A |
7: 140,595,920 (GRCm39) |
R124S |
possibly damaging |
Het |
Il17rd |
T |
A |
14: 26,816,811 (GRCm39) |
L172Q |
probably damaging |
Het |
Il4 |
A |
T |
11: 53,504,741 (GRCm39) |
L13Q |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,735 (GRCm39) |
M516T |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
Mark1-ps1 |
T |
A |
17: 54,254,905 (GRCm39) |
|
noncoding transcript |
Het |
Mndal |
G |
T |
1: 173,702,013 (GRCm39) |
C96* |
probably null |
Het |
Mroh1 |
T |
C |
15: 76,335,340 (GRCm39) |
S1365P |
probably benign |
Het |
Mrpl12 |
A |
G |
11: 120,376,268 (GRCm39) |
|
probably benign |
Het |
Mthfsd |
C |
A |
8: 121,825,478 (GRCm39) |
V270F |
probably benign |
Het |
Nbas |
T |
A |
12: 13,374,337 (GRCm39) |
V555D |
probably damaging |
Het |
Pcdhb16 |
T |
C |
18: 37,611,412 (GRCm39) |
V124A |
probably damaging |
Het |
Pla2g10 |
T |
A |
16: 13,533,382 (GRCm39) |
Y131F |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,075,614 (GRCm39) |
|
probably benign |
Het |
Polr2b |
T |
A |
5: 77,474,408 (GRCm39) |
V415E |
possibly damaging |
Het |
Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
Ptprd |
T |
C |
4: 75,865,276 (GRCm39) |
|
probably benign |
Het |
Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Scn7a |
A |
G |
2: 66,544,381 (GRCm39) |
V370A |
probably benign |
Het |
Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
Slco2b1 |
A |
T |
7: 99,334,708 (GRCm39) |
Y254* |
probably null |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk10 |
A |
G |
11: 32,553,722 (GRCm39) |
T580A |
probably benign |
Het |
Tpo |
C |
T |
12: 30,154,022 (GRCm39) |
G228R |
probably damaging |
Het |
Tpx2 |
T |
C |
2: 152,735,603 (GRCm39) |
F744L |
probably damaging |
Het |
Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
A |
G |
10: 130,230,062 (GRCm39) |
S17P |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,891,264 (GRCm39) |
|
probably benign |
Het |
Zfp532 |
T |
A |
18: 65,818,698 (GRCm39) |
S851R |
probably benign |
Het |
Zfp623 |
G |
A |
15: 75,819,058 (GRCm39) |
E5K |
probably benign |
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 |
|
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 |
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 |
|
Posted On |
2013-03-25 |