Incidental Mutation 'IGL02985:Cfap91'
| ID |
406690 |
| 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 # |
IGL02985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38118634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 722
(I722F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000023504]
|
| AlphaFold |
Q8BRC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023501
AA Change: I722F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: I722F
| 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: ENSMUST00000023504
|
| SMART Domains |
Protein: ENSMUSP00000023504
Gene: ENSMUSG00000022809
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
35 |
107 |
6.32e-33 |
SMART |
|
HOLI
|
242 |
401 |
4.61e-35 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133496
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
| Galr1 |
A |
T |
18: 82,411,855 (GRCm39) |
M337K |
probably benign |
Het |
| Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
| Gpatch8 |
G |
T |
11: 102,372,336 (GRCm39) |
H401N |
unknown |
Het |
| Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,690,444 (GRCm39) |
M153V |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,267,209 (GRCm39) |
R30* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
| Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
| Pde7a |
T |
A |
3: 19,365,047 (GRCm39) |
H40L |
probably damaging |
Het |
| Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
| Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
| Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation