Mutagenetix > Incidental Mutation

Incidental Mutation 'R4880:Cfap157'

375187

Institutional Source

Beutler Lab

Gene Symbol

Cfap157

Ensembl Gene

ENSMUSG00000038987

Gene Name

cilia and flagella associated protein 157

Synonyms

1700019L03Rik

MMRRC Submission

042489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4880 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

32667425-32674417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32668261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 393 (V393E)

Ref Sequence

ENSEMBL: ENSMUSP00000099877 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000102813
AA Change: V393E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: V393E

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

noncoding transcript
Transcript: ENSMUST00000192262

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

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

Meta Mutation Damage Score

0.3420

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

98% (89/91)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,529 (GRCm39)	I744T	possibly damaging	Het
Adgrb1	T	A	15: 74,458,871 (GRCm39)	F1324L	possibly damaging	Het
Adm	A	G	7: 110,228,326 (GRCm39)	H230R	probably benign	Het
Ank2	A	T	3: 126,840,475 (GRCm39)		probably null	Het
Arih1	A	T	9: 59,344,168 (GRCm39)	F156L	possibly damaging	Het
Atf6b	A	G	17: 34,873,529 (GRCm39)	H660R	probably damaging	Het
Bcl9l	C	A	9: 44,420,007 (GRCm39)	Q1101K	probably benign	Het
Ccdc174	G	A	6: 91,876,572 (GRCm39)		probably benign	Het
Ccdc65	A	C	15: 98,620,538 (GRCm39)		probably null	Het
Cela2a	T	C	4: 141,549,598 (GRCm39)	N59S	probably benign	Het
Chd1	T	C	17: 17,594,916 (GRCm39)	F17S	probably damaging	Het
Cpne3	T	C	4: 19,540,827 (GRCm39)	I183V	probably benign	Het
Cyp2d11	C	A	15: 82,276,306 (GRCm39)	V122L	probably benign	Het
Dcaf8	C	A	1: 172,015,056 (GRCm39)		probably benign	Het
Dchs1	T	A	7: 105,404,937 (GRCm39)	D2535V	probably benign	Het
Eif4a2	G	T	16: 22,927,650 (GRCm39)		probably benign	Het
Fzd4	T	A	7: 89,057,109 (GRCm39)	D385E	probably benign	Het
Galnt13	C	A	2: 54,950,584 (GRCm39)	Q422K	probably damaging	Het
Gnptab	C	T	10: 88,268,413 (GRCm39)	Q507*	probably null	Het
Hoxa7	A	G	6: 52,194,014 (GRCm39)		probably benign	Het
Htra1	T	A	7: 130,563,813 (GRCm39)	V228D	probably damaging	Het
Idi2l	A	T	13: 8,990,702 (GRCm39)		probably null	Het
Ifi203	T	A	1: 173,756,716 (GRCm39)		probably benign	Het
Iqca1l	T	C	5: 24,754,750 (GRCm39)	D340G	probably benign	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Itga2b	G	T	11: 102,348,548 (GRCm39)		probably benign	Het
Itgb1	G	T	8: 129,442,631 (GRCm39)	R272L	probably damaging	Het
Kif9	A	G	9: 110,330,703 (GRCm39)	E343G	probably damaging	Het
Klhl5	T	C	5: 65,316,244 (GRCm39)	V97A	probably damaging	Het
Lama5	C	A	2: 179,818,861 (GRCm39)		probably benign	Het
Lamb2	A	G	9: 108,361,226 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,660,931 (GRCm39)	Y59F	probably benign	Het
Mmrn1	A	G	6: 60,953,423 (GRCm39)	E568G	probably benign	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Myh7	C	A	14: 55,216,045 (GRCm39)	V1323F	probably benign	Het
Nr1i3	T	A	1: 171,043,951 (GRCm39)	I91K	probably damaging	Het
Nsfl1c	T	A	2: 151,348,230 (GRCm39)	D206E	probably damaging	Het
Or11g24	T	C	14: 50,662,758 (GRCm39)	Y261H	possibly damaging	Het
Or13c3	A	T	4: 52,856,411 (GRCm39)	M34K	probably damaging	Het
Or2ak5	G	A	11: 58,611,107 (GRCm39)	L256F	probably benign	Het
Or4k44	A	T	2: 111,367,698 (GRCm39)	L312*	probably null	Het
Or5k17	A	C	16: 58,746,463 (GRCm39)	L157W	probably damaging	Het
Or8b54	T	A	9: 38,686,843 (GRCm39)	C97*	probably null	Het
Pcdhb7	C	T	18: 37,475,284 (GRCm39)	T140I	probably benign	Het
Pcdhgb5	T	G	18: 37,865,641 (GRCm39)	S479A	probably benign	Het
Pcsk5	T	A	19: 17,425,054 (GRCm39)	Y1583F	probably damaging	Het
Pias1	T	C	9: 62,820,080 (GRCm39)	R296G	probably benign	Het
Plscr1l1	A	G	9: 92,236,665 (GRCm39)	E108G	probably damaging	Het
Polr1e	T	A	4: 45,022,280 (GRCm39)	C100S	probably damaging	Het
Rpap1	C	A	2: 119,614,346 (GRCm39)	R17L	probably damaging	Het
Rtn1	C	T	12: 72,264,232 (GRCm39)	V192I	possibly damaging	Het
Ryr2	G	A	13: 11,767,104 (GRCm39)	P1262L	probably damaging	Het
Slc4a7	G	T	14: 14,757,342 (GRCm38)	D396Y	probably damaging	Het
Slc5a8	T	C	10: 88,727,886 (GRCm39)	Y118H	probably damaging	Het
Slc7a6os	T	A	8: 106,937,247 (GRCm39)	Q71L	probably benign	Het
Sphkap	A	G	1: 83,266,538 (GRCm39)	V127A	probably damaging	Het
Srpk1	A	G	17: 28,810,199 (GRCm39)	S580P	probably damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	G	3: 93,351,130 (GRCm39)	D190G	possibly damaging	Het
Tenm4	T	A	7: 96,555,025 (GRCm39)		probably null	Het
Tex14	T	A	11: 87,377,121 (GRCm39)	I155N	possibly damaging	Het
Tm7sf3	A	T	6: 146,511,358 (GRCm39)	V377E	possibly damaging	Het
Tnfsf9	T	A	17: 57,412,433 (GRCm39)	M1K	probably null	Het
Tns2	C	T	15: 102,020,474 (GRCm39)	T780I	probably damaging	Het
Trdn	T	A	10: 33,347,575 (GRCm39)	D639E	probably benign	Het
Trmt10a	A	G	3: 137,857,972 (GRCm39)	E173G	possibly damaging	Het
Ttn	G	A	2: 76,649,119 (GRCm39)	P10984S	possibly damaging	Het
Tubb6	C	T	18: 67,534,386 (GRCm39)	T95M	possibly damaging	Het
Uroc1	G	T	6: 90,334,519 (GRCm39)	R577L	probably damaging	Het
Vmn2r86	T	A	10: 130,289,484 (GRCm39)	D137V	probably benign	Het
Xkr7	T	C	2: 152,896,873 (GRCm39)	Y576H	probably damaging	Het
Zfp410	A	G	12: 84,384,449 (GRCm39)	N355D	probably damaging	Het
Zfp59	C	A	7: 27,543,742 (GRCm39)	D22E	probably damaging	Het
Zfp64	C	T	2: 168,736,297 (GRCm39)	R460H	probably damaging	Het
Zfp655	T	C	5: 145,181,168 (GRCm39)	V342A	probably damaging	Het
Zfp990	G	A	4: 145,264,490 (GRCm39)	G496E	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
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'- GAAACAGCCCCTTCCTTGGATG -3'
(R):5'- TCCCAGCCTGATAACTTGTG -3'

Sequencing Primer
(F):5'- ATATTGGAGAGCCAGGGTCTGC -3'
(R):5'- AGCCTGATAACTTGTGTTCCAC -3'

Posted On

2016-03-17