Incidental Mutation 'IGL00338:Cfap157'
| ID |
7233 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfap157
|
| Ensembl Gene |
ENSMUSG00000038987 |
| Gene Name |
cilia and flagella associated protein 157 |
| Synonyms |
1700019L03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL00338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32667425-32674417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32671395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 137
(D137G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000102813]
|
| AlphaFold |
Q0VFX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066352
|
| SMART Domains |
Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pept_tRNA_hydro
|
22 |
200 |
6.3e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102813
AA Change: D137G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: D137G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
32 |
191 |
N/A |
INTRINSIC |
|
coiled coil region
|
301 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192262
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout males are infertile owing to reduced sperm count and reduced and abnormal sperm motility as a result of abnormal sperm morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
| Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
| Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
| Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
| Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
| Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
| Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
| Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
| Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
| Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
| Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
| Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
| Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
| Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
| Other mutations in Cfap157 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00852:Cfap157
|
APN |
2 |
32,669,827 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01284:Cfap157
|
APN |
2 |
32,671,491 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02315:Cfap157
|
APN |
2 |
32,668,177 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4810001:Cfap157
|
UTSW |
2 |
32,671,444 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0654:Cfap157
|
UTSW |
2 |
32,669,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0699:Cfap157
|
UTSW |
2 |
32,669,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Cfap157
|
UTSW |
2 |
32,671,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Cfap157
|
UTSW |
2 |
32,667,935 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2165:Cfap157
|
UTSW |
2 |
32,668,175 (GRCm39) |
splice site |
probably null |
|
|
R4304:Cfap157
|
UTSW |
2 |
32,669,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Cfap157
|
UTSW |
2 |
32,669,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Cfap157
|
UTSW |
2 |
32,669,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4439:Cfap157
|
UTSW |
2 |
32,667,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4859:Cfap157
|
UTSW |
2 |
32,667,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4880:Cfap157
|
UTSW |
2 |
32,668,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Cfap157
|
UTSW |
2 |
32,669,965 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5808:Cfap157
|
UTSW |
2 |
32,670,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Cfap157
|
UTSW |
2 |
32,669,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Cfap157
|
UTSW |
2 |
32,671,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Cfap157
|
UTSW |
2 |
32,670,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Cfap157
|
UTSW |
2 |
32,669,086 (GRCm39) |
missense |
probably benign |
|
|
R6959:Cfap157
|
UTSW |
2 |
32,674,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7123:Cfap157
|
UTSW |
2 |
32,669,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7469:Cfap157
|
UTSW |
2 |
32,670,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Cfap157
|
UTSW |
2 |
32,669,890 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7573:Cfap157
|
UTSW |
2 |
32,667,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7697:Cfap157
|
UTSW |
2 |
32,669,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7911:Cfap157
|
UTSW |
2 |
32,668,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Cfap157
|
UTSW |
2 |
32,668,018 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8493:Cfap157
|
UTSW |
2 |
32,669,752 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9597:Cfap157
|
UTSW |
2 |
32,669,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Cfap157
|
UTSW |
2 |
32,669,867 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Cfap157
|
UTSW |
2 |
32,668,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation