Incidental Mutation 'R6647:Cfap157'
| ID |
526106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap157
|
| Ensembl Gene |
ENSMUSG00000038987 |
| Gene Name |
cilia and flagella associated protein 157 |
| Synonyms |
1700019L03Rik |
| MMRRC Submission |
044768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32667425-32674417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 32669086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 339
(A339E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000102813]
[ENSMUST00000125891]
[ENSMUST00000161430]
[ENSMUST00000161950]
[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 |
probably benign
Transcript: ENSMUST00000102813
AA Change: A339E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: A339E
| 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: ENSMUST00000138214
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000150918
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (53/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,544,060 (GRCm39) |
T1416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,494 (GRCm39) |
S103P |
probably damaging |
Het |
| Ces1h |
A |
C |
8: 94,078,654 (GRCm39) |
*563G |
probably null |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,324 (GRCm39) |
H231R |
possibly damaging |
Het |
| Ddx31 |
A |
T |
2: 28,765,750 (GRCm39) |
T483S |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,201 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,403,633 (GRCm39) |
A3453T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,115,743 (GRCm39) |
F1500I |
probably damaging |
Het |
| Eprs1 |
C |
T |
1: 185,146,621 (GRCm39) |
A1217V |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,604,335 (GRCm39) |
Y481C |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,420,670 (GRCm39) |
N635K |
unknown |
Het |
| Fras1 |
A |
G |
5: 96,883,061 (GRCm39) |
D2531G |
probably damaging |
Het |
| Frat1 |
C |
T |
19: 41,819,264 (GRCm39) |
Q220* |
probably null |
Het |
| Gcc2 |
T |
A |
10: 58,123,103 (GRCm39) |
|
probably null |
Het |
| Gm3285 |
T |
C |
10: 77,698,447 (GRCm39) |
|
probably benign |
Het |
| Gm9857 |
T |
C |
3: 108,847,379 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
A |
6: 135,710,108 (GRCm39) |
W1146L |
probably damaging |
Het |
| Hells |
T |
A |
19: 38,919,948 (GRCm39) |
L33I |
probably benign |
Het |
| Ift81 |
T |
A |
5: 122,748,229 (GRCm39) |
R54* |
probably null |
Het |
| Ints12 |
G |
A |
3: 132,802,639 (GRCm39) |
R41Q |
possibly damaging |
Het |
| Katnal2 |
C |
T |
18: 77,067,733 (GRCm39) |
E403K |
probably benign |
Het |
| Kcnk1 |
A |
G |
8: 126,722,199 (GRCm39) |
M1V |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,389,422 (GRCm39) |
T950A |
probably benign |
Het |
| Kdr |
G |
A |
5: 76,113,549 (GRCm39) |
A773V |
probably damaging |
Het |
| Lats1 |
G |
C |
10: 7,573,271 (GRCm39) |
M118I |
possibly damaging |
Het |
| Mug1 |
A |
G |
6: 121,817,200 (GRCm39) |
I90V |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,852,484 (GRCm39) |
D1064G |
probably benign |
Het |
| Nkx2-4 |
A |
T |
2: 146,926,187 (GRCm39) |
I225N |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,020,740 (GRCm39) |
D409G |
probably benign |
Het |
| Ogfod2 |
G |
C |
5: 124,252,866 (GRCm39) |
R292P |
possibly damaging |
Het |
| Oprk1 |
C |
T |
1: 5,672,507 (GRCm39) |
P215S |
probably damaging |
Het |
| Or5d36 |
A |
T |
2: 87,901,053 (GRCm39) |
F224L |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,169,033 (GRCm39) |
C94* |
probably null |
Het |
| Or7g27 |
T |
A |
9: 19,249,925 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,906,210 (GRCm39) |
I174V |
possibly damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,225 (GRCm39) |
K395R |
possibly damaging |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Pycard |
T |
C |
7: 127,592,741 (GRCm39) |
T29A |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,754 (GRCm39) |
A452V |
probably benign |
Het |
| Rasgrf1 |
C |
G |
9: 89,892,516 (GRCm39) |
T1072S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,956 (GRCm39) |
R707* |
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,993,618 (GRCm39) |
I767T |
probably damaging |
Het |
| Setd7 |
A |
G |
3: 51,450,183 (GRCm39) |
V81A |
probably benign |
Het |
| Shisal2a |
A |
G |
4: 108,225,224 (GRCm39) |
S113P |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,800 (GRCm39) |
S685P |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,372 (GRCm39) |
E904G |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,245,526 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,721,659 (GRCm39) |
N1174Y |
probably damaging |
Het |
| Tas2r138 |
G |
T |
6: 40,589,733 (GRCm39) |
T171K |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,893,999 (GRCm39) |
D77G |
possibly damaging |
Het |
| Vav3 |
A |
T |
3: 109,434,732 (GRCm39) |
H421L |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,841 (GRCm39) |
L215P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,785 (GRCm39) |
S386R |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,183,089 (GRCm39) |
R233S |
probably benign |
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 |
|
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 |
|
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'- TGAGAAAAGGAGTCTGGCCATC -3'
(R):5'- ATGCCTTTGCCTAGAGCCTC -3'
Sequencing Primer
(F):5'- AAGAGGCCCTCTACGATTTG -3'
(R):5'- CCTCAGGGTTTGGACTGTCAGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation