Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Cfap157'

235396

Institutional Source

Beutler Lab

Gene Symbol

Cfap157

Ensembl Gene

ENSMUSG00000038987

Gene Name

cilia and flagella associated protein 157

Synonyms

1700019L03Rik

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32667425-32674417 bp(-) (GRCm39)

Type of Mutation

splice site (566 bp from exon)

DNA Base Change (assembly)

T to G at 32668175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068850 (fasta)

Gene Model

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

AlphaFold

Q0VFX2

Predicted Effect

probably null
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: M422L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: M422L

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: 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

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,906,048 (GRCm39)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,726,338 (GRCm39)	L403R	probably damaging	Het
Alox12	A	T	11: 70,133,398 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,763,210 (GRCm39)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,597,935 (GRCm39)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,425,624 (GRCm39)	M42V	probably benign	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Bub1	T	C	2: 127,643,201 (GRCm39)	I1048V	probably benign	Het
Cad	A	G	5: 31,219,564 (GRCm39)	N621S	probably damaging	Het
Camkv	C	A	9: 107,822,799 (GRCm39)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 46,395,876 (GRCm39)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,389,864 (GRCm39)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,777,691 (GRCm39)	L252P	probably damaging	Het
Cdh1	T	C	8: 107,390,953 (GRCm39)	C690R	probably damaging	Het
Cux2	A	G	5: 122,025,540 (GRCm39)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 106,925,880 (GRCm39)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,136,594 (GRCm39)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,137,152 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,642,688 (GRCm39)	V1104I	possibly damaging	Het
Ephb4	A	G	5: 137,352,688 (GRCm39)	I90M	probably benign	Het
Fam13c	A	G	10: 70,378,523 (GRCm39)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,673,444 (GRCm39)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,194,542 (GRCm39)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,564,686 (GRCm39)	N260D	probably benign	Het
Fnbp4	T	A	2: 90,597,743 (GRCm39)		probably null	Het
Fut9	T	A	4: 25,619,733 (GRCm39)	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734 (GRCm39)	*360L	probably null	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Haspin	A	C	11: 73,027,456 (GRCm39)	N544K	probably damaging	Het
Havcr1	A	G	11: 46,669,379 (GRCm39)	N286S	probably benign	Het
Lrp6	A	C	6: 134,436,246 (GRCm39)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,808,645 (GRCm39)	H294P	possibly damaging	Het
Mettl25b	A	T	3: 87,834,360 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,878,269 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprb1	T	C	7: 48,097,070 (GRCm39)	I281V	probably benign	Het
Muc4	A	G	16: 32,569,294 (GRCm39)	E118G	probably damaging	Het
Nefh	T	C	11: 4,893,872 (GRCm39)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,794,047 (GRCm39)	T168A	probably benign	Het
Or10s1	A	G	9: 39,986,211 (GRCm39)	N207D	possibly damaging	Het
Or1j18	T	A	2: 36,624,713 (GRCm39)	C127S	probably damaging	Het
Or51a10	T	C	7: 103,698,845 (GRCm39)	T239A	probably benign	Het
Or5ak4	A	T	2: 85,161,446 (GRCm39)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,123,498 (GRCm39)	M92R	probably damaging	Het
Pde8a	T	C	7: 80,945,516 (GRCm39)		probably null	Het
Pex5l	T	A	3: 33,007,281 (GRCm39)		probably null	Het
Pik3r4	T	A	9: 105,549,984 (GRCm39)	M1025K	probably benign	Het
Plch1	C	T	3: 63,605,903 (GRCm39)	E1325K	probably benign	Het
Plin2	A	T	4: 86,586,669 (GRCm39)	V54E	probably damaging	Het
Prss47	A	T	13: 65,192,887 (GRCm39)	I298N	probably damaging	Het
Prune2	A	G	19: 17,097,546 (GRCm39)	R1017G	probably benign	Het
Psg19	T	A	7: 18,530,911 (GRCm39)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Serpinb1a	T	C	13: 33,034,397 (GRCm39)		probably benign	Het
Sh3pxd2a	A	T	19: 47,266,794 (GRCm39)	V265E	probably damaging	Het
Slc22a17	A	T	14: 55,146,282 (GRCm39)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,968,663 (GRCm39)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,636,314 (GRCm39)	Y220C	probably damaging	Het
Slc66a3	G	A	12: 17,039,840 (GRCm39)	L192F	probably damaging	Het
Stab1	A	T	14: 30,890,392 (GRCm39)	S20T	probably benign	Het
Tcstv2a	A	T	13: 120,725,633 (GRCm39)	Q99L	probably damaging	Het
Thsd1	G	T	8: 22,728,538 (GRCm39)		probably benign	Het
Tmem204	G	A	17: 25,299,566 (GRCm39)		probably benign	Het
Tom1l1	A	G	11: 90,540,721 (GRCm39)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm39)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,301,553 (GRCm39)	K852E	unknown	Het
Wdpcp	T	G	11: 21,641,884 (GRCm39)	L174R	probably damaging	Het
Zbbx	G	A	3: 75,019,414 (GRCm39)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,133,488 (GRCm39)	R719*	probably null	Het
Zfp697	C	A	3: 98,335,330 (GRCm39)	A365E	unknown	Het
Zfp957	A	C	14: 79,451,053 (GRCm39)	S249A	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
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'- AACAGCCCCTTCCTTGGATG -3'
(R):5'- TGTGTTCCACCACAAACCAG -3'

Sequencing Primer
(F):5'- CCCTTCCTTGGATGTCTGGG -3'
(R):5'- CACTGAGAAAGCAGGCCCTG -3'

Posted On

2014-10-01