Mutagenetix > Incidental Mutation

Incidental Mutation 'R0565:Cep131'

46145

Institutional Source

Beutler Lab

Gene Symbol

Cep131

Ensembl Gene

ENSMUSG00000039781

Gene Name

centrosomal protein 131

Synonyms

Azi1, AZ1

MMRRC Submission

038756-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0565 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

119955256-119977653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119964588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 289 (H289Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101834 (fasta)

Gene Model

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

AlphaFold

Q62036

Predicted Effect

probably damaging
Transcript: ENSMUST00000106227
AA Change: H289Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: H289Q

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: H289Q

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: H289Q

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

probably benign
Transcript: ENSMUST00000180242
AA Change: H289Q

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: H289Q

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

Meta Mutation Damage Score

0.1288

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.6%

Validation Efficiency

100% (73/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,682,200 (GRCm39)	H1010L	probably benign	Het
A2ml1	C	A	6: 128,545,706 (GRCm39)	E474*	probably null	Het
Agtr1b	T	C	3: 20,369,838 (GRCm39)	H256R	probably damaging	Het
Amacr	C	T	15: 10,982,032 (GRCm39)	A46V	possibly damaging	Het
Atosb	A	T	4: 43,034,647 (GRCm39)		probably benign	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Caskin2	T	C	11: 115,691,842 (GRCm39)	E981G	probably damaging	Het
Ccdc88a	A	G	11: 29,411,042 (GRCm39)		probably benign	Het
Cd180	A	G	13: 102,839,382 (GRCm39)		probably benign	Het
Cd200l1	T	A	16: 45,264,536 (GRCm39)		probably benign	Het
Cemip	G	A	7: 83,613,318 (GRCm39)	H627Y	probably damaging	Het
Cep350	G	A	1: 155,836,941 (GRCm39)		probably benign	Het
Cfap52	A	T	11: 67,840,425 (GRCm39)	C169S	probably benign	Het
Cps1	A	T	1: 67,205,608 (GRCm39)	T544S	possibly damaging	Het
Cul7	T	C	17: 46,962,929 (GRCm39)	S187P	probably damaging	Het
Dhx40	C	A	11: 86,661,993 (GRCm39)	R688L	probably damaging	Het
E330034G19Rik	C	A	14: 24,356,985 (GRCm39)	Q174K	probably benign	Het
Efna5	T	C	17: 63,188,031 (GRCm39)	Y32C	probably damaging	Het
Ethe1	A	G	7: 24,307,314 (GRCm39)	H176R	probably benign	Het
Exoc3	A	G	13: 74,330,394 (GRCm39)		probably null	Het
Fam135b	T	A	15: 71,362,686 (GRCm39)	N232Y	possibly damaging	Het
Fndc9	C	T	11: 46,128,984 (GRCm39)	L168F	probably damaging	Het
Fpr-rs3	G	A	17: 20,844,283 (GRCm39)	A286V	probably damaging	Het
Immt	T	A	6: 71,823,467 (GRCm39)		probably benign	Het
Ipo7	T	C	7: 109,648,800 (GRCm39)		probably benign	Het
Ipo8	A	T	6: 148,688,221 (GRCm39)	L747H	probably damaging	Het
Ireb2	A	T	9: 54,807,267 (GRCm39)	N610Y	probably damaging	Het
Irs2	A	G	8: 11,054,592 (GRCm39)	V1280A	probably damaging	Het
Kcnj3	T	A	2: 55,485,276 (GRCm39)	M458K	probably benign	Het
Kl	A	G	5: 150,904,409 (GRCm39)	K387R	possibly damaging	Het
L3mbtl2	C	A	15: 81,568,487 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,348,914 (GRCm39)	I649L	probably benign	Het
Lipm	A	C	19: 34,093,906 (GRCm39)	L274F	probably benign	Het
Lrfn3	A	G	7: 30,060,216 (GRCm39)	V3A	probably benign	Het
Lrrc8c	A	C	5: 105,754,894 (GRCm39)	D223A	probably damaging	Het
Ltn1	C	A	16: 87,212,898 (GRCm39)	K554N	probably benign	Het
Mertk	T	C	2: 128,613,403 (GRCm39)	I473T	probably benign	Het
Mfsd12	C	A	10: 81,197,243 (GRCm39)	N245K	probably benign	Het
Mmp16	A	G	4: 17,987,705 (GRCm39)	D89G	probably damaging	Het
Myo5a	T	A	9: 75,087,394 (GRCm39)	N1083K	probably benign	Het
Ncapd3	C	T	9: 26,999,294 (GRCm39)	A1290V	probably benign	Het
Nefm	A	G	14: 68,362,070 (GRCm39)	S65P	probably damaging	Het
Nt5c2	C	T	19: 46,886,064 (GRCm39)	R220H	probably damaging	Het
Or4c102	T	A	2: 88,422,353 (GRCm39)	D68E	probably benign	Het
Osbpl1a	A	T	18: 12,892,501 (GRCm39)	S438R	probably damaging	Het
Pcdhb5	T	C	18: 37,453,820 (GRCm39)	S67P	possibly damaging	Het
Per3	A	T	4: 151,118,409 (GRCm39)	I228N	probably damaging	Het
Pnpla7	T	G	2: 24,870,129 (GRCm39)		probably benign	Het
Ppp1r15b	G	T	1: 133,064,391 (GRCm39)		probably benign	Het
Psmd2	G	T	16: 20,479,176 (GRCm39)	L678F	probably null	Het
Ptch2	A	G	4: 116,963,340 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,158 (GRCm39)	D959E	probably benign	Het
Rph3al	C	T	11: 75,724,227 (GRCm39)		probably null	Het
Sec31b	T	A	19: 44,512,992 (GRCm39)	E499V	probably damaging	Het
Sel1l	T	C	12: 91,778,663 (GRCm39)	I667M	probably benign	Het
Sel1l	C	A	12: 91,780,719 (GRCm39)	V641L	possibly damaging	Het
Slc7a1	T	A	5: 148,288,879 (GRCm39)	I123F	probably damaging	Het
Smarca2	G	A	19: 26,659,275 (GRCm39)	R855Q	possibly damaging	Het
Sphk1	G	T	11: 116,427,184 (GRCm39)		probably benign	Het
Spink12	C	A	18: 44,237,755 (GRCm39)	S11*	probably null	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Stxbp1	T	C	2: 32,709,860 (GRCm39)	T78A	probably benign	Het
Trim11	T	A	11: 58,881,410 (GRCm39)	S434R	probably damaging	Het
Ubr2	T	C	17: 47,266,812 (GRCm39)	E1113G	probably damaging	Het
Upb1	T	A	10: 75,264,188 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,266 (GRCm39)	C458S	probably damaging	Het
Vmn1r58	T	C	7: 5,414,165 (GRCm39)	I22V	probably benign	Het
Vps25	T	C	11: 101,149,731 (GRCm39)		probably benign	Het
Wbp2	G	T	11: 115,973,211 (GRCm39)	D65E	possibly damaging	Het
Wdr72	A	G	9: 74,124,588 (GRCm39)	D980G	probably benign	Het
Xkr8	A	C	4: 132,458,228 (GRCm39)		probably null	Het

Other mutations in Cep131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01432:Cep131	APN	11	119,967,835 (GRCm39)	missense	possibly damaging	0.55
IGL01522:Cep131	APN	11	119,957,989 (GRCm39)	missense	probably benign	0.09
IGL01524:Cep131	APN	11	119,956,786 (GRCm39)	missense	probably damaging	1.00
IGL02477:Cep131	APN	11	119,961,406 (GRCm39)	missense	probably damaging	1.00
R1731:Cep131	UTSW	11	119,967,742 (GRCm39)	splice site	probably null
R1739:Cep131	UTSW	11	119,974,732 (GRCm39)	missense	probably benign	0.01
R1797:Cep131	UTSW	11	119,964,562 (GRCm39)	splice site	probably null
R2444:Cep131	UTSW	11	119,961,321 (GRCm39)	missense	probably damaging	1.00
R2899:Cep131	UTSW	11	119,962,854 (GRCm39)	missense	probably benign	0.01
R3854:Cep131	UTSW	11	119,958,011 (GRCm39)	nonsense	probably null
R3856:Cep131	UTSW	11	119,958,011 (GRCm39)	nonsense	probably null
R4446:Cep131	UTSW	11	119,955,645 (GRCm39)	missense	probably damaging	1.00
R4624:Cep131	UTSW	11	119,961,658 (GRCm39)	missense	probably damaging	1.00
R4838:Cep131	UTSW	11	119,966,982 (GRCm39)	missense	probably damaging	1.00
R4892:Cep131	UTSW	11	119,958,883 (GRCm39)	missense	probably damaging	0.99
R5170:Cep131	UTSW	11	119,961,435 (GRCm39)	missense	probably damaging	0.99
R6128:Cep131	UTSW	11	119,956,801 (GRCm39)	missense	probably damaging	1.00
R6179:Cep131	UTSW	11	119,956,837 (GRCm39)	missense	probably benign	0.13
R6362:Cep131	UTSW	11	119,955,516 (GRCm39)	missense	probably damaging	0.99
R6630:Cep131	UTSW	11	119,964,641 (GRCm39)	missense	probably damaging	1.00
R6786:Cep131	UTSW	11	119,956,218 (GRCm39)	missense	probably damaging	1.00
R6846:Cep131	UTSW	11	119,956,517 (GRCm39)	missense	probably damaging	1.00
R6847:Cep131	UTSW	11	119,956,517 (GRCm39)	missense	probably damaging	1.00
R7210:Cep131	UTSW	11	119,955,615 (GRCm39)	missense	probably damaging	0.96
R7569:Cep131	UTSW	11	119,957,539 (GRCm39)	missense	probably damaging	1.00
R8380:Cep131	UTSW	11	119,967,854 (GRCm39)	missense	probably damaging	1.00
R8794:Cep131	UTSW	11	119,972,074 (GRCm39)	missense	probably benign	0.01
R9520:Cep131	UTSW	11	119,968,157 (GRCm39)	missense	probably benign	0.09
RF015:Cep131	UTSW	11	119,963,794 (GRCm39)	critical splice acceptor site	probably benign
RF054:Cep131	UTSW	11	119,963,794 (GRCm39)	critical splice acceptor site	probably benign
Z1177:Cep131	UTSW	11	119,956,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTCAGGGAATCATCCTGGCAC -3'
(R):5'- GCCTGCTTTAGACTGACACTTGCAC -3'

Sequencing Primer
(F):5'- GCTGGTCTCTTGGTACATCAAC -3'
(R):5'- TCCACATCATAGCCTGGTGAG -3'

Posted On

2013-06-11