Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Cep131'

295010

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep131

Ensembl Gene

ENSMUSG00000039781

Gene Name

centrosomal protein 131

Synonyms

Azi1, AZ1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

120064430-120086827 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120070580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 582 (V582I)

Ref Sequence

ENSEMBL: ENSMUSP00000136392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106227] [ENSMUST00000106229] [ENSMUST00000180242]

AlphaFold

Q62036

Predicted Effect

probably damaging
Transcript: ENSMUST00000106227
AA Change: V581I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: V581I

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
IQ	261	283	7.58e-2	SMART
coiled coil region	306	344	N/A	INTRINSIC
low complexity region	395	409	N/A	INTRINSIC
low complexity region	440	459	N/A	INTRINSIC
low complexity region	561	576	N/A	INTRINSIC
SCOP:d1jila_	672	756	2e-3	SMART
low complexity region	785	803	N/A	INTRINSIC
low complexity region	813	826	N/A	INTRINSIC
coiled coil region	874	1053	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106229
AA Change: V582I

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: V582I

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
IQ	261	283	7.58e-2	SMART
coiled coil region	306	342	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	441	460	N/A	INTRINSIC
low complexity region	562	577	N/A	INTRINSIC
SCOP:d1jila_	673	757	2e-3	SMART
low complexity region	786	804	N/A	INTRINSIC
low complexity region	814	827	N/A	INTRINSIC
coiled coil region	875	1054	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175334

Predicted Effect

probably damaging
Transcript: ENSMUST00000180242
AA Change: V582I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: V582I

Domain	Start	End	E-Value	Type
low complexity region	113	124	N/A	INTRINSIC
low complexity region	238	257	N/A	INTRINSIC
IQ	261	283	7.58e-2	SMART
coiled coil region	306	345	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	441	460	N/A	INTRINSIC
low complexity region	562	577	N/A	INTRINSIC
SCOP:d1jila_	673	757	2e-3	SMART
low complexity region	786	804	N/A	INTRINSIC
low complexity region	814	827	N/A	INTRINSIC
coiled coil region	875	1054	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit partial preweaning lethality with no apparent defects in cilia formation or function. However, homozygotes display complete male infertility associated with spermiogenesis arrest, severe flagellar defects, and teratozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	Het

Other mutations in Cep131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Cep131	APN	11	120077009	missense	possibly damaging	0.55
IGL01522:Cep131	APN	11	120067163	missense	probably benign	0.09
IGL01524:Cep131	APN	11	120065960	missense	probably damaging	1.00
R0565:Cep131	UTSW	11	120073762	missense	probably damaging	0.97
R1731:Cep131	UTSW	11	120076916	splice site	probably null
R1739:Cep131	UTSW	11	120083906	missense	probably benign	0.01
R1797:Cep131	UTSW	11	120073736	splice site	probably null
R2444:Cep131	UTSW	11	120070495	missense	probably damaging	1.00
R2899:Cep131	UTSW	11	120072028	missense	probably benign	0.01
R3854:Cep131	UTSW	11	120067185	nonsense	probably null
R3856:Cep131	UTSW	11	120067185	nonsense	probably null
R4446:Cep131	UTSW	11	120064819	missense	probably damaging	1.00
R4624:Cep131	UTSW	11	120070832	missense	probably damaging	1.00
R4838:Cep131	UTSW	11	120076156	missense	probably damaging	1.00
R4892:Cep131	UTSW	11	120068057	missense	probably damaging	0.99
R5170:Cep131	UTSW	11	120070609	missense	probably damaging	0.99
R6128:Cep131	UTSW	11	120065975	missense	probably damaging	1.00
R6179:Cep131	UTSW	11	120066011	missense	probably benign	0.13
R6362:Cep131	UTSW	11	120064690	missense	probably damaging	0.99
R6630:Cep131	UTSW	11	120073815	missense	probably damaging	1.00
R6786:Cep131	UTSW	11	120065392	missense	probably damaging	1.00
R6846:Cep131	UTSW	11	120065691	missense	probably damaging	1.00
R6847:Cep131	UTSW	11	120065691	missense	probably damaging	1.00
R7210:Cep131	UTSW	11	120064789	missense	probably damaging	0.96
R7569:Cep131	UTSW	11	120066713	missense	probably damaging	1.00
R8380:Cep131	UTSW	11	120077028	missense	probably damaging	1.00
R8794:Cep131	UTSW	11	120081248	missense	probably benign	0.01
R9520:Cep131	UTSW	11	120077331	missense	probably benign	0.09
RF015:Cep131	UTSW	11	120072968	critical splice acceptor site	probably benign
RF054:Cep131	UTSW	11	120072968	critical splice acceptor site	probably benign
Z1177:Cep131	UTSW	11	120065715	missense	probably damaging	1.00

Posted On

2015-04-16