Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01522:Cep131'

89439

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: 0.942) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

120064430-120086827 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120067163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 779 (E779G)

Ref Sequence

ENSEMBL: ENSMUSP00000101836 (fasta)

Gene Model

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

AlphaFold

Q62036

Predicted Effect

probably benign
Transcript: ENSMUST00000106227
AA Change: E778G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: E778G

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

probably benign
Transcript: ENSMUST00000106229
AA Change: E779G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: E779G

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: ENSMUST00000145641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175334

Predicted Effect

probably benign
Transcript: ENSMUST00000180242
AA Change: E779G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: E779G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,582,865		probably null	Het
Adamts12	T	C	15: 11,065,159		probably null	Het
Adamts3	T	C	5: 89,702,943	N579S	probably benign	Het
Akr1c19	A	G	13: 4,239,099		probably benign	Het
Ankrd39	T	A	1: 36,542,061	H69L	probably damaging	Het
Apcdd1	T	A	18: 62,952,115	M461K	possibly damaging	Het
Bpifa3	G	A	2: 154,137,582	C209Y	probably damaging	Het
Cep85	T	C	4: 134,152,255	Q394R	probably damaging	Het
Cep85	G	T	4: 134,152,256	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,017,535	Y364C	probably benign	Het
Fetub	G	A	16: 22,929,641	M1I	probably null	Het
Greb1	T	C	12: 16,701,201	I1003V	probably damaging	Het
Hsf3	A	G	X: 96,320,594		probably benign	Het
Jcad	A	G	18: 4,673,312	N358S	probably damaging	Het
Kndc1	T	C	7: 139,913,972		probably benign	Het
Lama1	A	T	17: 67,752,774		probably benign	Het
Mark2	A	G	19: 7,281,238	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,228	W35R	probably damaging	Het
Ndc80	A	G	17: 71,499,325	V578A	probably benign	Het
Nfyc	T	C	4: 120,781,524	E42G	probably damaging	Het
Olfr1164	T	C	2: 88,093,016	K307E	possibly damaging	Het
Olfr1504	A	T	19: 13,887,358	L284*	probably null	Het
Olfr344	A	G	2: 36,569,221	T208A	probably benign	Het
Olfr547	A	T	7: 102,535,184	I146F	probably damaging	Het
Olfr935	A	T	9: 38,995,100	C112S	probably benign	Het
Pcdha11	T	C	18: 37,185,008	F925L	probably damaging	Het
Pdcd1	T	G	1: 94,040,846	R154S	probably benign	Het
Pepd	T	A	7: 34,924,440	D87E	probably benign	Het
Pfn4	A	G	12: 4,770,240	T30A	probably benign	Het
Pgpep1l	A	G	7: 68,237,708	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,163,116	N340S	probably benign	Het
Plcb4	A	G	2: 136,002,627	D155G	probably damaging	Het
Plg	G	A	17: 12,404,069	G499S	probably damaging	Het
Plin3	C	T	17: 56,280,799	W305*	probably null	Het
Polq	C	A	16: 37,027,903	L291I	probably damaging	Het
Sdf2l1	T	A	16: 17,132,150	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,693,055	D276N	possibly damaging	Het
Syk	A	G	13: 52,643,061	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,193	V302I	probably benign	Het
Uso1	T	C	5: 92,181,419	F389L	probably damaging	Het
Wwc2	T	A	8: 47,868,633	Y482F	unknown	Het

Other mutations in Cep131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Cep131	APN	11	120077009	missense	possibly damaging	0.55
IGL01524:Cep131	APN	11	120065960	missense	probably damaging	1.00
IGL02477:Cep131	APN	11	120070580	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

2013-12-03