Mutagenetix > Incidental Mutations

Incidental Mutation 'R4308:Cfap157'

324085

Institutional Source

Beutler Lab

Gene Symbol

Cfap157

Ensembl Gene

ENSMUSG00000038987

Gene Name

cilia and flagella associated protein 157

Synonyms

1700019L03Rik

MMRRC Submission

041659-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32777381-32784428 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32779042 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 350 (R350W)

Ref Sequence

ENSEMBL: ENSMUSP00000099877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000161958]

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 damaging
Transcript: ENSMUST00000102813
AA Change: R350W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: R350W

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

noncoding transcript
Transcript: ENSMUST00000150918

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

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: 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

noncoding transcript
Transcript: ENSMUST00000192262

Meta Mutation Damage Score

0.5047

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,440,192	T4425M	probably damaging	Het
Arhgef5	C	T	6: 43,279,498	A1180V	probably damaging	Het
Asap2	T	C	12: 21,229,481	I426T	probably damaging	Het
Ascc1	T	G	10: 60,013,612	H108Q	probably benign	Het
Bod1l	A	T	5: 41,791,813	S2989T	possibly damaging	Het
Cyp39a1	T	A	17: 43,730,964		probably null	Het
Dars2	A	G	1: 161,041,721	S653P	probably damaging	Het
Fam208b	A	C	13: 3,569,498	S2244R	probably damaging	Het
Fancm	A	T	12: 65,126,531	K1872N	probably benign	Het
Fktn	C	T	4: 53,724,617		probably benign	Het
Gpr33	A	T	12: 52,023,640	C205*	probably null	Het
Gsdmc2	A	G	15: 63,848,705		probably benign	Het
Il31	A	G	5: 123,480,706	S6P	probably damaging	Het
Iqca	T	C	1: 90,144,897	K87R	probably damaging	Het
Kif15	T	G	9: 123,013,982	H47Q	probably benign	Het
L3mbtl3	C	T	10: 26,282,792	A653T	unknown	Het
Lamb1	T	C	12: 31,329,255	L1737P	probably damaging	Het
Map2k5	C	G	9: 63,235,304	R353S	probably benign	Het
Mical2	C	A	7: 112,331,992	L721I	probably benign	Het
Myo1b	T	C	1: 51,883,109	K37E	probably benign	Het
Myo5b	A	G	18: 74,731,740	D1369G	possibly damaging	Het
Npc1	C	T	18: 12,210,527	A470T	possibly damaging	Het
Olfr1148	T	C	2: 87,833,270	I77T	probably damaging	Het
Olfr116	C	T	17: 37,623,736	V300I	possibly damaging	Het
Pcdhb1	A	T	18: 37,266,661	D555V	probably benign	Het
Prr27	A	G	5: 87,842,907	H126R	probably benign	Het
Rbm20	A	G	19: 53,843,260	S642G	probably damaging	Het
Rnf144b	A	G	13: 47,242,942	N252D	probably damaging	Het
Rnf219	T	A	14: 104,479,593	N448I	probably damaging	Het
Rwdd2b	A	T	16: 87,436,727	W162R	probably damaging	Het
Scaf11	A	G	15: 96,446,515	M19T	probably benign	Het
Sft2d2	A	G	1: 165,188,264	I45T	probably benign	Het
Skint5	A	T	4: 113,483,967	H1371Q	unknown	Het
Tas2r124	A	G	6: 132,754,991	I88V	probably benign	Het
Ubr4	T	C	4: 139,472,509	V4568A	possibly damaging	Het
Vmn2r12	A	G	5: 109,086,006	L780P	probably damaging	Het
Vmn2r18	A	T	5: 151,584,803	Y285*	probably null	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zfp983	A	G	17: 21,662,208	I351V	probably benign	Het

Other mutations in Cfap157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Cfap157	APN	2	32781383	missense	probably damaging	1.00
IGL00852:Cfap157	APN	2	32779815	missense	possibly damaging	0.89
IGL01284:Cfap157	APN	2	32781479	missense	possibly damaging	0.69
IGL02315:Cfap157	APN	2	32778165	missense	probably benign	0.02
PIT4810001:Cfap157	UTSW	2	32781432	missense	probably damaging	0.96
R0654:Cfap157	UTSW	2	32779942	missense	probably damaging	1.00
R0699:Cfap157	UTSW	2	32779010	missense	probably damaging	1.00
R1103:Cfap157	UTSW	2	32781398	missense	probably damaging	1.00
R1123:Cfap157	UTSW	2	32777923	missense	possibly damaging	0.93
R2165:Cfap157	UTSW	2	32778163	splice site	probably null
R4304:Cfap157	UTSW	2	32779042	missense	probably damaging	1.00
R4307:Cfap157	UTSW	2	32779042	missense	probably damaging	1.00
R4439:Cfap157	UTSW	2	32777865	missense	probably benign	0.00
R4859:Cfap157	UTSW	2	32777542	missense	probably benign	0.00
R4880:Cfap157	UTSW	2	32778249	missense	probably damaging	1.00
R4917:Cfap157	UTSW	2	32779953	missense	probably benign	0.19
R5808:Cfap157	UTSW	2	32780645	missense	probably damaging	1.00
R6052:Cfap157	UTSW	2	32779851	missense	probably damaging	1.00
R6405:Cfap157	UTSW	2	32781396	missense	probably damaging	1.00
R6502:Cfap157	UTSW	2	32780678	missense	probably damaging	1.00
R6647:Cfap157	UTSW	2	32779074	missense	probably benign
R6959:Cfap157	UTSW	2	32784248	missense	probably damaging	1.00
R7123:Cfap157	UTSW	2	32779401	missense	probably damaging	0.99
R7469:Cfap157	UTSW	2	32780684	missense	probably damaging	1.00
R7527:Cfap157	UTSW	2	32779878	missense	possibly damaging	0.86
R7573:Cfap157	UTSW	2	32777508	missense	probably benign	0.00
R7697:Cfap157	UTSW	2	32779753	missense	probably benign	0.01
R7911:Cfap157	UTSW	2	32778207	missense	probably damaging	1.00
R8338:Cfap157	UTSW	2	32778006	missense	possibly damaging	0.54
R8493:Cfap157	UTSW	2	32779740	missense	probably benign	0.06
X0020:Cfap157	UTSW	2	32779855	missense	probably benign	0.35
Z1177:Cfap157	UTSW	2	32778207	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCCAACTCATTTAGATCGAG -3'
(R):5'- ACTGTCAGACAAGTTGAAGCC -3'

Sequencing Primer
(F):5'- CCCAACTCATTTAGATCGAGAATGAG -3'
(R):5'- GCCTGGATTTAGAAAGGCTTCAC -3'

Posted On

2015-06-24