Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Cep131'

346434

Institutional Source

Beutler Lab

Gene Symbol

Cep131

Ensembl Gene

ENSMUSG00000039781

Gene Name

centrosomal protein 131

Synonyms

Azi1, AZ1

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119955256-119977653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119961658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 558 (E558G)

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: E557G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: E557G

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 damaging
Transcript: ENSMUST00000106229
AA Change: E558G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: E558G

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: E558G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: E558G

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

0.1297

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	probably benign	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
R0565:Cep131	UTSW	11	119,964,588 (GRCm39)	missense	probably damaging	0.97
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
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'- AGATGGTGGTGTTGAATCCC -3'
(R):5'- TCTCCATGGCTGACCTGTTG -3'

Sequencing Primer
(F):5'- TGAATCCCTGCCGTGTGG -3'
(R):5'- AGGTGTCCCACATAGCTGTC -3'

Posted On

2015-09-25