Incidental Mutation 'R4424:Cfap91'
| ID |
327292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap91
|
| Ensembl Gene |
ENSMUSG00000022805 |
| Gene Name |
cilia and flagella associated protein 91 |
| Synonyms |
4932425I24Rik, Spata26, Maats1 |
| MMRRC Submission |
041696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38140727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 409
(P409T)
|
| 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: P409T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: P409T
| 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 |
0.2838 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,491 (GRCm39) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Ankrd16 |
T |
A |
2: 11,789,215 (GRCm39) |
D267E |
possibly damaging |
Het |
| Apol11b |
A |
G |
15: 77,522,133 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,741,151 (GRCm39) |
D98E |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,129 (GRCm39) |
I257F |
probably benign |
Het |
| Atp5f1a |
T |
A |
18: 77,867,766 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,738,928 (GRCm39) |
T861A |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,691,002 (GRCm39) |
F1259L |
possibly damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,512 (GRCm39) |
V350A |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,379,150 (GRCm39) |
L744P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,453 (GRCm39) |
D204V |
possibly damaging |
Het |
| Cstdc3 |
A |
G |
16: 36,132,951 (GRCm39) |
D76G |
probably null |
Het |
| Cyp2c29 |
G |
T |
19: 39,275,620 (GRCm39) |
W20L |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,927,951 (GRCm39) |
G266* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,995,716 (GRCm39) |
N362D |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,626,940 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,015,532 (GRCm39) |
V715A |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Fpr2 |
C |
T |
17: 18,113,394 (GRCm39) |
P130L |
probably damaging |
Het |
| Glce |
A |
G |
9: 61,967,535 (GRCm39) |
Y539H |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,866 (GRCm39) |
V91E |
probably benign |
Het |
| Hoxd13 |
A |
T |
2: 74,500,301 (GRCm39) |
K281* |
probably null |
Het |
| Ighv1-66 |
A |
T |
12: 115,557,157 (GRCm39) |
W3R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,080,388 (GRCm39) |
V622I |
possibly damaging |
Het |
| Jun |
A |
G |
4: 94,939,084 (GRCm39) |
M142T |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,652,929 (GRCm39) |
C216* |
probably null |
Het |
| Lin54 |
G |
T |
5: 100,594,419 (GRCm39) |
T582K |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,029,576 (GRCm39) |
|
probably null |
Het |
| Mindy3 |
A |
G |
2: 12,353,010 (GRCm39) |
M397T |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,418 (GRCm39) |
T85A |
possibly damaging |
Het |
| Msh6 |
T |
A |
17: 88,298,217 (GRCm39) |
L1354* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,230,400 (GRCm39) |
V41A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,551 (GRCm39) |
Q1478L |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,195,320 (GRCm39) |
K897E |
probably benign |
Het |
| Naprt |
G |
T |
15: 75,764,605 (GRCm39) |
|
probably null |
Het |
| Nrl |
G |
A |
14: 55,759,675 (GRCm39) |
S84L |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,744,128 (GRCm39) |
|
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,652 (GRCm39) |
R307S |
possibly damaging |
Het |
| Panx2 |
G |
T |
15: 88,952,423 (GRCm39) |
V305F |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,795,632 (GRCm39) |
L212P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,320 (GRCm39) |
T133I |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,591,603 (GRCm39) |
K2694E |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,854,247 (GRCm39) |
I42M |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 76,021,200 (GRCm39) |
M599K |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,444,742 (GRCm39) |
D237G |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scaf11 |
G |
A |
15: 96,316,309 (GRCm39) |
T1085I |
possibly damaging |
Het |
| Sec14l3 |
G |
A |
11: 4,016,210 (GRCm39) |
R43Q |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,494,442 (GRCm39) |
T131K |
probably benign |
Het |
| Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,367,379 (GRCm39) |
T228A |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Sptan1 |
C |
T |
2: 29,919,721 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Upf3a |
C |
A |
8: 13,846,573 (GRCm39) |
P318T |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,726,005 (GRCm39) |
M518K |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,378,680 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
G |
A |
3: 94,916,439 (GRCm39) |
P861L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCTGCCTTTGATGACTTG -3'
(R):5'- AGAATAGTTTCTCGCTGTGTCACC -3'
Sequencing Primer
(F):5'- CAGGGTGTAGCATTCCTAGG -3'
(R):5'- TGTGTCACCCAGGTCACTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation