Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:Cep131'

603497

Institutional Source

Beutler Lab

Gene Symbol

Cep131

Ensembl Gene

ENSMUSG00000039781

Gene Name

centrosomal protein 131

Synonyms

Azi1, AZ1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

RF015 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

119955256-119977653 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

CTGTTGTT to CTGTTGTTGTT at 119963794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101836 (fasta)

Gene Model

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

AlphaFold

Q62036

Predicted Effect

probably benign
Transcript: ENSMUST00000106227

SMART Domains

Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781

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

SMART Domains

Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781

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

probably benign
Transcript: ENSMUST00000180242

SMART Domains

Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781

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

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,824 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,822 (GRCm39)		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,819 (GRCm39)		probably benign	Het
Abcb4	GAA	G	5: 8,946,594 (GRCm39)		probably null	Het
Agap1	T	A	1: 89,561,985 (GRCm39)	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Arid1a	AGGC	A	4: 133,480,142 (GRCm39)		probably benign	Het
Bco2	A	G	9: 50,457,297 (GRCm39)	F82L	probably damaging	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,129,695 (GRCm39)		probably benign	Het
Capn9	T	C	8: 125,345,221 (GRCm39)	F683L	probably benign	Het
Cfap251	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,392,305 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,679 (GRCm39)		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 86,922,491 (GRCm39)		probably benign	Het
Cyria	T	A	12: 12,419,939 (GRCm39)	S294R	probably benign	Het
Dnah10	G	A	5: 124,895,141 (GRCm39)	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,821,420 (GRCm39)		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)		probably null	Het
Gatad1	A	T	5: 3,697,523 (GRCm39)	C33S	possibly damaging	Het
H2-DMb1	A	G	17: 34,374,476 (GRCm39)	Y42C	probably damaging	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGCGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,447 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Het
Mucl2	T	A	15: 103,927,696 (GRCm39)	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,924,718 (GRCm39)	V1749A	probably benign	Het
Or52e5	A	G	7: 104,719,255 (GRCm39)	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,854,855 (GRCm39)	N417Y	probably damaging	Het
Pclo	G	T	5: 14,565,283 (GRCm39)	L16F	unknown	Het
Pik3c2g	T	A	6: 139,700,497 (GRCm39)	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf41	C	T	10: 128,271,279 (GRCm39)	A63V	probably benign	Het
Sirt1	C	T	10: 63,172,795 (GRCm39)	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Skor2	A	G	18: 76,948,483 (GRCm39)	E735G	probably damaging	Het
Slc26a8	TCTCTGGCTCTGGCTCTGGCTCTGGCTC	TCTCTGGCTCTGGCTCTGGCTC	17: 28,857,315 (GRCm39)		probably benign	Het
Smco2	T	TTCG	6: 146,754,161 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,061,846 (GRCm39)	I172T	probably damaging	Het
Syne1	T	C	10: 5,252,248 (GRCm39)	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,966,656 (GRCm39)		probably benign	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,685,413 (GRCm39)	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,000,406 (GRCm39)		probably benign	Het
Utp18	A	G	11: 93,776,287 (GRCm39)	L66P	probably damaging	Het
Wnt7a	C	T	6: 91,371,405 (GRCm39)	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,013,444 (GRCm39)		probably benign	Het
Zgrf1	A	G	3: 127,356,882 (GRCm39)	I703V	probably benign	Het
Zpld2	T	C	4: 133,920,338 (GRCm39)	H609R	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
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
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'- AGTTTCACCTCACTGTAGGCC -3'
(R):5'- GAACCTTCTGGAACTGCACC -3'

Sequencing Primer
(F):5'- TCACTGTAGGCCTCCCAG -3'
(R):5'- AAAAGGCTCGTCAGGCC -3'

Posted On

2019-12-04