Incidental Mutation 'R6405:Cfap157'
ID |
516240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap157
|
Ensembl Gene |
ENSMUSG00000038987 |
Gene Name |
cilia and flagella associated protein 157 |
Synonyms |
1700019L03Rik |
MMRRC Submission |
044550-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R6405 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32667425-32674417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 32671408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 133
(Q133K)
|
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: Q133K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099877 Gene: ENSMUSG00000038987 AA Change: Q133K
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Rab4b |
T |
A |
7: 26,872,379 (GRCm39) |
D94V |
probably damaging |
Het |
Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
Slc29a3 |
A |
T |
10: 60,551,805 (GRCm39) |
I413N |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,154,064 (GRCm39) |
L229P |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,210,231 (GRCm39) |
Y241H |
probably damaging |
Het |
Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
Zcchc7 |
T |
C |
4: 44,926,032 (GRCm39) |
Y344H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTGGCATACAGCTCTTATTACCC -3'
(R):5'- ATGGGATGAACTGGCTGTGC -3'
Sequencing Primer
(F):5'- AGCTCTTATTACCCAAGGGAGCTG -3'
(R):5'- AGAAGCTGTTCCATCAGGAGTTC -3'
|
Posted On |
2018-05-04 |