Incidental Mutation 'IGL01284:Cfap157'
ID |
72644 |
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: 0.088)
|
Stock # |
IGL01284
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32667425-32674417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32671491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
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 |
possibly damaging
Transcript: ENSMUST00000102813
AA Change: D105G
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099877 Gene: ENSMUSG00000038987 AA Change: D105G
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
G |
5: 28,615,707 (GRCm39) |
T17A |
probably damaging |
Het |
Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
probably damaging |
Het |
|
Other mutations in Cfap157 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00338:Cfap157
|
APN |
2 |
32,671,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00852:Cfap157
|
APN |
2 |
32,669,827 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
2013-10-07 |