Incidental Mutation 'R5177:Cfap91'
| ID |
399653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap91
|
| Ensembl Gene |
ENSMUSG00000022805 |
| Gene Name |
cilia and flagella associated protein 91 |
| Synonyms |
4932425I24Rik, Spata26, Maats1 |
| MMRRC Submission |
042757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5177 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38152683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 176
(S176P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
| AlphaFold |
Q8BRC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023501
AA Change: S176P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: S176P
| 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: S176P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: S176P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141896
|
| Meta Mutation Damage Score |
0.0679 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (71/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,115,639 (GRCm39) |
R575Q |
probably damaging |
Het |
| Arhgap22 |
T |
G |
14: 33,088,650 (GRCm39) |
V377G |
probably benign |
Het |
| Asic4 |
T |
C |
1: 75,427,483 (GRCm39) |
I3T |
probably damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,656,506 (GRCm39) |
T715A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,103,992 (GRCm39) |
L464P |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,917,508 (GRCm39) |
H283L |
probably damaging |
Het |
| Cfb |
A |
G |
17: 35,078,002 (GRCm39) |
V976A |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,595,989 (GRCm39) |
T1250A |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
A |
10: 52,180,730 (GRCm39) |
D131E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,651 (GRCm39) |
S1920P |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,108,185 (GRCm39) |
H197Y |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,349,924 (GRCm39) |
|
probably null |
Het |
| Ears2 |
A |
G |
7: 121,643,683 (GRCm39) |
|
probably benign |
Het |
| Epgn |
A |
C |
5: 91,176,136 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,302,601 (GRCm39) |
T418A |
probably benign |
Het |
| F12 |
G |
A |
13: 55,567,981 (GRCm39) |
P476S |
probably benign |
Het |
| Gal3st2c |
C |
T |
1: 93,936,930 (GRCm39) |
Q292* |
probably null |
Het |
| Galnt7 |
C |
A |
8: 58,037,061 (GRCm39) |
Q109H |
possibly damaging |
Het |
| Gimap1 |
G |
T |
6: 48,720,032 (GRCm39) |
G215W |
probably damaging |
Het |
| Gm28042 |
T |
A |
2: 119,872,082 (GRCm39) |
|
probably null |
Het |
| Gm5414 |
A |
G |
15: 101,534,252 (GRCm39) |
I284T |
possibly damaging |
Het |
| Hddc3 |
A |
G |
7: 79,992,914 (GRCm39) |
E10G |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,305,266 (GRCm39) |
K31E |
probably damaging |
Het |
| Hspg2 |
A |
C |
4: 137,246,083 (GRCm39) |
Y989S |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,086,141 (GRCm39) |
T402M |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,540,529 (GRCm39) |
L115* |
probably null |
Het |
| Lama2 |
C |
T |
10: 27,066,699 (GRCm39) |
V1061M |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,602,833 (GRCm39) |
T836I |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,922 (GRCm39) |
D304G |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,433,660 (GRCm39) |
Q915R |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,668 (GRCm39) |
|
probably benign |
Het |
| Myorg |
C |
A |
4: 41,498,407 (GRCm39) |
E408* |
probably null |
Het |
| Nbn |
A |
T |
4: 15,965,132 (GRCm39) |
|
probably null |
Het |
| Nek8 |
G |
A |
11: 78,061,297 (GRCm39) |
Q383* |
probably null |
Het |
| Nme7 |
T |
G |
1: 164,208,245 (GRCm39) |
Y304* |
probably null |
Het |
| Nol8 |
A |
T |
13: 49,814,588 (GRCm39) |
H214L |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,006,098 (GRCm39) |
I261F |
possibly damaging |
Het |
| Oprk1 |
T |
G |
1: 5,672,897 (GRCm39) |
C345G |
probably damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,102 (GRCm39) |
T8A |
probably benign |
Het |
| Or52j3 |
A |
T |
7: 102,836,710 (GRCm39) |
I301L |
probably benign |
Het |
| Polrmt |
T |
C |
10: 79,573,310 (GRCm39) |
S998G |
probably benign |
Het |
| Ppp1r12c |
T |
A |
7: 4,487,495 (GRCm39) |
R393* |
probably null |
Het |
| Prpf3 |
T |
A |
3: 95,757,036 (GRCm39) |
|
probably benign |
Het |
| Rabl6 |
T |
C |
2: 25,475,385 (GRCm39) |
M563V |
probably benign |
Het |
| Rasa2 |
C |
A |
9: 96,426,844 (GRCm39) |
E775* |
probably null |
Het |
| Rc3h1 |
G |
T |
1: 160,779,222 (GRCm39) |
V552L |
probably damaging |
Het |
| Rhot1 |
A |
T |
11: 80,137,592 (GRCm39) |
N365Y |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,027,781 (GRCm39) |
V402M |
possibly damaging |
Het |
| Rusc2 |
A |
T |
4: 43,421,805 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,536,643 (GRCm39) |
E141G |
probably damaging |
Het |
| Slc34a1 |
A |
T |
13: 55,548,975 (GRCm39) |
I142F |
probably damaging |
Het |
| Socs6 |
A |
C |
18: 88,887,504 (GRCm39) |
Y470* |
probably null |
Het |
| Sox12 |
A |
T |
2: 152,239,098 (GRCm39) |
L174Q |
unknown |
Het |
| Srl |
A |
G |
16: 4,314,267 (GRCm39) |
|
probably null |
Het |
| Tacc1 |
A |
T |
8: 25,691,237 (GRCm39) |
V22E |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,379,582 (GRCm39) |
C947* |
probably null |
Het |
| Tlr12 |
A |
C |
4: 128,512,169 (GRCm39) |
V27G |
probably damaging |
Het |
| Tmprss4 |
C |
A |
9: 45,085,260 (GRCm39) |
V398L |
probably benign |
Het |
| Trip6 |
T |
C |
5: 137,310,434 (GRCm39) |
D270G |
probably damaging |
Het |
| Uba5 |
T |
G |
9: 103,926,497 (GRCm39) |
N355T |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,006,761 (GRCm39) |
Y1171H |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,664 (GRCm39) |
I695T |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,199 (GRCm39) |
I695L |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,651,177 (GRCm39) |
M192K |
probably damaging |
Het |
| Vps16 |
G |
T |
2: 130,285,288 (GRCm39) |
E782* |
probably null |
Het |
| Zfp783 |
A |
G |
6: 47,923,737 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- AATCTGGGTCACTCCTAGGAACTC -3'
(R):5'- CGGAAGCATTAAATGAATGTTGCTG -3'
Sequencing Primer
(F):5'- TGGGTCACTCCTAGGAACTCAGTAG -3'
(R):5'- GAATGTTGCTGTTTTAATACCCTTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation