Incidental Mutation 'IGL02377:Cfap91'
| ID |
291206 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap91
|
| Ensembl Gene |
ENSMUSG00000022805 |
| Gene Name |
cilia and flagella associated protein 91 |
| Synonyms |
4932425I24Rik, Spata26, Maats1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02377
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 38153181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
| AlphaFold |
Q8BRC6 |
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141896
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,937,689 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,965,133 (GRCm39) |
|
probably benign |
Het |
| App |
T |
C |
16: 84,879,719 (GRCm39) |
Q138R |
probably benign |
Het |
| Asah2 |
T |
A |
19: 31,986,814 (GRCm39) |
I529F |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,356,128 (GRCm39) |
S1195P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,149 (GRCm39) |
M134T |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 135,996,732 (GRCm39) |
L111P |
probably damaging |
Het |
| Capns2 |
A |
T |
8: 93,628,215 (GRCm39) |
N35Y |
probably benign |
Het |
| Ccne1 |
A |
G |
7: 37,798,415 (GRCm39) |
|
probably null |
Het |
| Csf1r |
G |
T |
18: 61,257,540 (GRCm39) |
|
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,313,930 (GRCm39) |
I131F |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 99,817,007 (GRCm39) |
Y326F |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 31,013,770 (GRCm39) |
V3837A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,562,711 (GRCm39) |
|
probably null |
Het |
| Emg1 |
A |
G |
6: 124,681,620 (GRCm39) |
V208A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,727,282 (GRCm39) |
D1280V |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,868,691 (GRCm39) |
D911G |
unknown |
Het |
| Fam171a1 |
T |
C |
2: 3,224,623 (GRCm39) |
|
probably null |
Het |
| Fcgbp |
T |
C |
7: 27,806,395 (GRCm39) |
V2121A |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,511,714 (GRCm39) |
|
probably benign |
Het |
| Fignl1 |
G |
T |
11: 11,752,845 (GRCm39) |
T70K |
possibly damaging |
Het |
| Fndc3b |
T |
C |
3: 27,674,801 (GRCm39) |
E47G |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,539,385 (GRCm39) |
K189E |
possibly damaging |
Het |
| Hpse |
T |
A |
5: 100,839,199 (GRCm39) |
Y383F |
probably damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,681,798 (GRCm39) |
L197P |
probably damaging |
Het |
| Klf1 |
A |
C |
8: 85,631,561 (GRCm39) |
H375P |
probably damaging |
Het |
| Krtap6-5 |
T |
A |
16: 88,844,734 (GRCm39) |
|
probably benign |
Het |
| Lacc1 |
A |
T |
14: 77,267,055 (GRCm39) |
S403T |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,689,807 (GRCm39) |
I2850V |
possibly damaging |
Het |
| Lats2 |
C |
T |
14: 57,929,052 (GRCm39) |
R941Q |
probably damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,284,290 (GRCm39) |
Y430N |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,850,743 (GRCm39) |
H1103L |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,365 (GRCm39) |
M1I |
probably null |
Het |
| Magee2 |
A |
T |
X: 103,900,399 (GRCm39) |
V84D |
possibly damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,602 (GRCm39) |
V281I |
possibly damaging |
Het |
| Mycbpap |
A |
G |
11: 94,394,076 (GRCm39) |
V340A |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,181,775 (GRCm39) |
M1842K |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,906,130 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nfkbid |
C |
T |
7: 30,124,689 (GRCm39) |
Q160* |
probably null |
Het |
| Or11h6 |
T |
A |
14: 50,879,975 (GRCm39) |
|
probably null |
Het |
| Or2y1d |
A |
T |
11: 49,321,859 (GRCm39) |
K185N |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,475,630 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or7e168 |
C |
T |
9: 19,720,343 (GRCm39) |
S243F |
probably damaging |
Het |
| Or8c11 |
A |
T |
9: 38,289,542 (GRCm39) |
T122S |
probably damaging |
Het |
| Or9q2 |
T |
G |
19: 13,772,693 (GRCm39) |
Q94P |
possibly damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,213,404 (GRCm39) |
Q916P |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,050,743 (GRCm39) |
Q174R |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,321 (GRCm39) |
S970P |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,102,667 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,955,952 (GRCm39) |
V165A |
possibly damaging |
Het |
| Rdh10 |
G |
A |
1: 16,176,438 (GRCm39) |
W66* |
probably null |
Het |
| Ripor2 |
T |
A |
13: 24,879,549 (GRCm39) |
|
probably benign |
Het |
| Slc35g1 |
T |
A |
19: 38,391,678 (GRCm39) |
M320K |
possibly damaging |
Het |
| Slc9a7 |
A |
G |
X: 20,068,963 (GRCm39) |
Y197H |
probably damaging |
Het |
| Smn1 |
T |
C |
13: 100,272,192 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
G |
A |
6: 24,796,696 (GRCm39) |
G216S |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,068,194 (GRCm39) |
N114I |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,069,491 (GRCm39) |
V1615D |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc2 |
T |
A |
X: 40,914,355 (GRCm39) |
Q1005H |
possibly damaging |
Het |
| Thra |
G |
A |
11: 98,652,742 (GRCm39) |
R189Q |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,983,685 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,882,934 (GRCm39) |
H886Q |
probably damaging |
Het |
| Zfp157 |
G |
A |
5: 138,445,859 (GRCm39) |
W71* |
probably null |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation