Incidental Mutation 'R1123:Cfap157'
ID |
95818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap157
|
Ensembl Gene |
ENSMUSG00000038987 |
Gene Name |
cilia and flagella associated protein 157 |
Synonyms |
1700019L03Rik |
MMRRC Submission |
039196-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1123 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32667425-32674417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32667935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 469
(V469M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099877
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000102813]
[ENSMUST00000125891]
[ENSMUST00000161950]
[ENSMUST00000161430]
[ENSMUST00000161958]
[ENSMUST00000161089]
|
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 benign
Transcript: ENSMUST00000066478
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
18 |
51 |
2.26e-3 |
SMART |
TPR
|
52 |
85 |
4.09e-1 |
SMART |
TPR
|
93 |
126 |
8.3e-2 |
SMART |
TPR
|
161 |
194 |
4.44e1 |
SMART |
TPR
|
208 |
241 |
3.69e1 |
SMART |
TPR
|
242 |
275 |
1.08e1 |
SMART |
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
TPR
|
322 |
355 |
1.02e-1 |
SMART |
TPR
|
363 |
396 |
7.27e0 |
SMART |
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091059
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
75 |
108 |
2.26e-3 |
SMART |
TPR
|
109 |
142 |
4.09e-1 |
SMART |
TPR
|
150 |
183 |
8.3e-2 |
SMART |
TPR
|
218 |
251 |
4.44e1 |
SMART |
TPR
|
265 |
298 |
3.69e1 |
SMART |
TPR
|
299 |
332 |
1.08e1 |
SMART |
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
TPR
|
379 |
412 |
1.02e-1 |
SMART |
TPR
|
420 |
453 |
7.27e0 |
SMART |
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102813
AA Change: V469M
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099877 Gene: ENSMUSG00000038987 AA Change: V469M
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: ENSMUST00000123674
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192262
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161950
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
18 |
51 |
2.26e-3 |
SMART |
TPR
|
52 |
85 |
4.09e-1 |
SMART |
TPR
|
93 |
126 |
8.3e-2 |
SMART |
TPR
|
161 |
194 |
4.44e1 |
SMART |
TPR
|
208 |
241 |
3.69e1 |
SMART |
TPR
|
242 |
275 |
1.08e1 |
SMART |
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
TPR
|
322 |
355 |
1.02e-1 |
SMART |
TPR
|
363 |
396 |
7.27e0 |
SMART |
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161430
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
75 |
108 |
2.26e-3 |
SMART |
TPR
|
109 |
142 |
4.09e-1 |
SMART |
TPR
|
150 |
183 |
8.3e-2 |
SMART |
TPR
|
218 |
251 |
4.44e1 |
SMART |
TPR
|
265 |
298 |
3.69e1 |
SMART |
TPR
|
299 |
332 |
1.08e1 |
SMART |
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
TPR
|
379 |
412 |
1.02e-1 |
SMART |
TPR
|
420 |
453 |
7.27e0 |
SMART |
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
low complexity region
|
686 |
697 |
N/A |
INTRINSIC |
low complexity region
|
782 |
807 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161958
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161089
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021
Domain | Start | End | E-Value | Type |
TPR
|
18 |
51 |
2.26e-3 |
SMART |
TPR
|
52 |
85 |
4.09e-1 |
SMART |
TPR
|
93 |
126 |
8.3e-2 |
SMART |
TPR
|
161 |
194 |
4.44e1 |
SMART |
TPR
|
208 |
241 |
3.69e1 |
SMART |
TPR
|
242 |
275 |
1.08e1 |
SMART |
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
TPR
|
322 |
355 |
1.02e-1 |
SMART |
TPR
|
363 |
396 |
7.27e0 |
SMART |
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,154,906 (GRCm39) |
M987K |
probably benign |
Het |
Akap3 |
A |
G |
6: 126,842,929 (GRCm39) |
D516G |
probably benign |
Het |
Arhgap12 |
A |
C |
18: 6,031,822 (GRCm39) |
V573G |
probably damaging |
Het |
Ccdc122 |
T |
C |
14: 77,305,351 (GRCm39) |
S2P |
probably damaging |
Het |
Cel |
T |
C |
2: 28,446,752 (GRCm39) |
Y473C |
probably damaging |
Het |
Cyp2c40 |
C |
G |
19: 39,801,121 (GRCm39) |
V45L |
probably benign |
Het |
Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,821,762 (GRCm39) |
T706A |
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,352,427 (GRCm39) |
V728E |
probably benign |
Het |
Etnk2 |
A |
G |
1: 133,301,010 (GRCm39) |
D259G |
probably benign |
Het |
Evi5 |
T |
G |
5: 107,968,444 (GRCm39) |
I184L |
probably benign |
Het |
Fem1a |
G |
C |
17: 56,564,791 (GRCm39) |
D295H |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,424,799 (GRCm39) |
F83S |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,991,436 (GRCm39) |
T601A |
probably benign |
Het |
Isoc1 |
T |
C |
18: 58,804,695 (GRCm39) |
V201A |
probably benign |
Het |
Kcnt2 |
A |
T |
1: 140,501,346 (GRCm39) |
D830V |
probably damaging |
Het |
Lrfn1 |
G |
T |
7: 28,166,544 (GRCm39) |
C646F |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,299,428 (GRCm39) |
Y1255H |
probably benign |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,001,212 (GRCm39) |
S115P |
possibly damaging |
Het |
Or5k16 |
A |
T |
16: 58,736,697 (GRCm39) |
Y102* |
probably null |
Het |
Or9m1 |
A |
C |
2: 87,733,248 (GRCm39) |
I257M |
probably damaging |
Het |
Pik3r4 |
G |
A |
9: 105,540,328 (GRCm39) |
A739T |
probably benign |
Het |
Prpf8 |
T |
C |
11: 75,386,111 (GRCm39) |
V920A |
probably damaging |
Het |
Slc16a7 |
A |
C |
10: 125,067,016 (GRCm39) |
S208A |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc35g2 |
A |
T |
9: 100,435,047 (GRCm39) |
I208N |
probably damaging |
Het |
Suclg1 |
A |
G |
6: 73,233,210 (GRCm39) |
I51V |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,666,336 (GRCm39) |
L286P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGATTCCACCATATCCCTGAGGC -3'
(R):5'- TGCAGCAACTGCTGGTATTGCTC -3'
Sequencing Primer
(F):5'- GGCTACCCAACTATAGCCTGG -3'
(R):5'- CTCAGGGGTGGTTTTGAAAACAC -3'
|
Posted On |
2014-01-05 |