Incidental Mutation 'R8702:Cfap91'
| ID |
669125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap91
|
| Ensembl Gene |
ENSMUSG00000022805 |
| Gene Name |
cilia and flagella associated protein 91 |
| Synonyms |
4932425I24Rik, Spata26, Maats1 |
| MMRRC Submission |
068556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8702 (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 38152674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 179
(Y179H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
| AlphaFold |
Q8BRC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023501
AA Change: Y179H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: Y179H
| 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
AA Change: Y179H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: Y179H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,297,415 (GRCm39) |
R501G |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 77,985,732 (GRCm39) |
F712L |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 14,992,638 (GRCm39) |
A292E |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 146,042,710 (GRCm39) |
I1161T |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,688,700 (GRCm39) |
T1348S |
unknown |
Het |
| Dck |
T |
A |
5: 88,926,272 (GRCm39) |
N239K |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,399,998 (GRCm39) |
|
probably null |
Het |
| Elac1 |
G |
T |
18: 73,872,291 (GRCm39) |
Q235K |
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,861,310 (GRCm39) |
W1952L |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,704,529 (GRCm39) |
K47E |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,015 (GRCm39) |
Y327N |
probably damaging |
Het |
| Grxcr2 |
T |
C |
18: 42,131,754 (GRCm39) |
D105G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,461,914 (GRCm39) |
L506H |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,127 (GRCm39) |
T214A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,482,750 (GRCm39) |
C1440S |
probably damaging |
Het |
| Lrrtm2 |
G |
T |
18: 35,346,018 (GRCm39) |
A428D |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,085,717 (GRCm39) |
Y5506C |
probably damaging |
Het |
| Nrros |
T |
A |
16: 31,966,589 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,839 (GRCm39) |
F258L |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Oxct1 |
T |
C |
15: 4,183,243 (GRCm39) |
S485P |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,709,489 (GRCm39) |
Q145* |
probably null |
Het |
| Pecr |
G |
T |
1: 72,306,661 (GRCm39) |
Q207K |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rev3l |
T |
A |
10: 39,714,465 (GRCm39) |
Y2396* |
probably null |
Het |
| Serbp1 |
G |
T |
6: 67,244,156 (GRCm39) |
D26Y |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,619,701 (GRCm39) |
S109T |
probably benign |
Het |
| Tpd52l2 |
C |
T |
2: 181,143,749 (GRCm39) |
H73Y |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,057,103 (GRCm39) |
W594L |
unknown |
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 |
|
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 |
|
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'- ACTCAGTGAGAATTGCCAACTC -3'
(R):5'- TCTGTATGCCAAGGTCTGGG -3'
Sequencing Primer
(F):5'- GTGAGAATTGCCAACTCACCCC -3'
(R):5'- CGGAAGCATTAAATGAATGTTGCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation