Mutagenetix > Incidental Mutation

Incidental Mutation 'R8931:Poc1b'

680318

Institutional Source

Beutler Lab

Gene Symbol

Poc1b

Ensembl Gene

ENSMUSG00000019952

Gene Name

POC1 centriolar protein B

Synonyms

Wdr51b, 4933430F16Rik

MMRRC Submission

068775-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98942918-99033936 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 99028861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020113] [ENSMUST00000020113] [ENSMUST00000159043] [ENSMUST00000159228] [ENSMUST00000159990] [ENSMUST00000219884]

AlphaFold

Q8BHD1

Predicted Effect

probably null
Transcript: ENSMUST00000020113

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	428	468	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000020113

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	428	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159043

SMART Domains

Protein: ENSMUSP00000123719
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	2	38	5.95e-7	SMART
Blast:WD40	41	75	9e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000159228

SMART Domains

Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	1.71e-7	SMART
WD40	49	88	8.68e-9	SMART
WD40	91	130	2.71e-10	SMART
WD40	133	172	2.43e-12	SMART
WD40	175	214	2.07e-6	SMART
WD40	217	256	1.71e-7	SMART
WD40	259	298	7.55e-9	SMART
coiled coil region	401	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159990

SMART Domains

Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952

Domain	Start	End	E-Value	Type
WD40	7	46	8.68e-9	SMART
WD40	49	88	2.71e-10	SMART
WD40	91	130	2.43e-12	SMART
WD40	133	172	2.07e-6	SMART
WD40	175	214	1.71e-7	SMART
WD40	217	256	7.55e-9	SMART
coiled coil region	386	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219884

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	C	17: 13,147,405 (GRCm39)	P204R	probably damaging	Het
Aldh3b1	A	G	19: 3,968,803 (GRCm39)	I250T	possibly damaging	Het
Ankrd11	C	T	8: 123,622,718 (GRCm39)	R378K	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Arhgef19	T	C	4: 140,976,603 (GRCm39)	V455A	probably damaging	Het
BC051019	T	C	7: 109,315,286 (GRCm39)	E323G	probably damaging	Het
Bzw2	T	C	12: 36,184,943 (GRCm39)	N2S	possibly damaging	Het
Calm3	G	C	7: 16,651,398 (GRCm39)	F66L	probably damaging	Het
Carmil1	T	A	13: 24,338,704 (GRCm39)	T191S	probably benign	Het
Cemip2	T	A	19: 21,770,323 (GRCm39)	S104T	probably benign	Het
Cep170	A	T	1: 176,597,377 (GRCm39)	C389S	probably benign	Het
Clhc1	C	T	11: 29,510,533 (GRCm39)	Q195*	probably null	Het
Cttnbp2	A	G	6: 18,434,808 (GRCm39)	L350P	probably benign	Het
Cyp7a1	T	C	4: 6,271,238 (GRCm39)	E306G	possibly damaging	Het
Ddx25	T	C	9: 35,465,864 (GRCm39)	N119S	possibly damaging	Het
Ephx2	G	T	14: 66,322,441 (GRCm39)		probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fbln2	A	T	6: 91,246,072 (GRCm39)	I973F	probably damaging	Het
Fbn1	T	C	2: 125,202,095 (GRCm39)	I1259M	probably damaging	Het
Glis1	A	G	4: 107,421,060 (GRCm39)	H92R	probably benign	Het
Gm13283	A	C	4: 88,679,516 (GRCm39)	D169A	probably benign	Het
Gpr61	A	G	3: 108,057,470 (GRCm39)	L397P	probably benign	Het
H4c11	T	A	13: 21,919,369 (GRCm39)	I35N	probably damaging	Het
Hip1	A	T	5: 135,460,297 (GRCm39)		probably benign	Het
Hmgcs2	C	T	3: 98,203,557 (GRCm39)	A222V	probably damaging	Het
Ifna2	G	A	4: 88,601,712 (GRCm39)	T102I	probably benign	Het
Kat6b	T	C	14: 21,674,995 (GRCm39)	S387P	probably damaging	Het
Ldlr	G	A	9: 21,643,108 (GRCm39)	V45M	probably damaging	Het
Mc3r	A	T	2: 172,091,515 (GRCm39)	I246F	possibly damaging	Het
Mug1	G	C	6: 121,861,296 (GRCm39)	A1306P	probably benign	Het
Myo15a	A	G	11: 60,368,020 (GRCm39)	E260G	probably benign	Het
Naa16	A	G	14: 79,582,395 (GRCm39)	Y565H	probably damaging	Het
Ndufaf7	A	G	17: 79,244,950 (GRCm39)	Y23C	possibly damaging	Het
Nop58	G	A	1: 59,731,549 (GRCm39)		probably null	Het
Or6c33	A	T	10: 129,853,769 (GRCm39)	T180S	possibly damaging	Het
Or6c88	A	T	10: 129,406,550 (GRCm39)	T9S	probably benign	Het
Or7g19	T	A	9: 18,855,920 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,971 (GRCm39)	Q531*	probably null	Het
Pik3c2g	A	G	6: 139,821,093 (GRCm39)	T297A	probably benign	Het
Prb1c	G	A	6: 132,338,897 (GRCm39)	P107L		Het
Prokr2	A	G	2: 132,215,996 (GRCm39)	V155A	possibly damaging	Het
Rce1	C	T	19: 4,674,094 (GRCm39)		probably benign	Het
Rnf148	A	T	6: 23,654,704 (GRCm39)	N97K	possibly damaging	Het
Setbp1	A	G	18: 78,899,723 (GRCm39)	S1315P	probably benign	Het
Sgcz	A	G	8: 38,107,140 (GRCm39)	V124A	probably damaging	Het
Slc25a2	C	A	18: 37,771,089 (GRCm39)	G147C	probably damaging	Het
Slc28a2b	C	A	2: 122,348,983 (GRCm39)	P303Q		Het
Sod2	T	C	17: 13,227,193 (GRCm39)	L49P	probably damaging	Het
Tbc1d12	T	C	19: 38,854,098 (GRCm39)	V260A	probably benign	Het
Tcte2	C	A	17: 13,933,410 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,688,637 (GRCm39)	T2317A	probably damaging	Het
Tfcp2	T	C	15: 100,402,298 (GRCm39)	I500V	possibly damaging	Het
Trav14-3	C	A	14: 54,001,112 (GRCm39)	Q108K	probably damaging	Het
Trbv14	T	C	6: 41,112,364 (GRCm39)	Y54H	probably damaging	Het
Trpm3	T	A	19: 22,744,034 (GRCm39)	V337E	probably damaging	Het
Tsbp1	T	C	17: 34,659,328 (GRCm39)		probably benign	Het
Uox	A	T	3: 146,318,047 (GRCm39)	I14F	probably damaging	Het
Wdfy3	A	G	5: 102,065,421 (GRCm39)	V1249A	probably benign	Het
Zfp511	T	C	7: 139,617,194 (GRCm39)	Y97H	probably damaging	Het
Zfp536	G	T	7: 37,268,721 (GRCm39)	Q232K	probably benign	Het
Zng1	T	G	19: 24,932,780 (GRCm39)	K84N	probably damaging	Het

Other mutations in Poc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Poc1b	APN	10	98,965,514 (GRCm39)	missense	probably benign	0.29
IGL01314:Poc1b	APN	10	98,965,503 (GRCm39)	missense	probably damaging	1.00
IGL02503:Poc1b	APN	10	98,980,210 (GRCm39)	splice site	probably benign
IGL02839:Poc1b	APN	10	98,980,460 (GRCm39)	splice site	probably benign
IGL02966:Poc1b	APN	10	98,980,176 (GRCm39)	missense	probably damaging	1.00
R0708:Poc1b	UTSW	10	98,990,992 (GRCm39)	missense	probably null	0.99
R0723:Poc1b	UTSW	10	98,965,457 (GRCm39)	missense	probably damaging	1.00
R1423:Poc1b	UTSW	10	98,988,725 (GRCm39)	missense	probably damaging	1.00
R4383:Poc1b	UTSW	10	98,992,161 (GRCm39)	missense	probably damaging	1.00
R4426:Poc1b	UTSW	10	98,991,001 (GRCm39)	critical splice donor site	probably null
R4427:Poc1b	UTSW	10	98,991,001 (GRCm39)	critical splice donor site	probably null
R5076:Poc1b	UTSW	10	98,943,703 (GRCm39)	missense	probably damaging	0.98
R6355:Poc1b	UTSW	10	98,965,436 (GRCm39)	missense	probably damaging	1.00
R6731:Poc1b	UTSW	10	98,988,733 (GRCm39)	missense	probably null	1.00
R6833:Poc1b	UTSW	10	99,028,666 (GRCm39)	missense	probably benign	0.16
R6834:Poc1b	UTSW	10	99,028,666 (GRCm39)	missense	probably benign	0.16
R7184:Poc1b	UTSW	10	98,970,199 (GRCm39)	missense	probably benign	0.01
R7794:Poc1b	UTSW	10	98,965,460 (GRCm39)	missense	possibly damaging	0.67
R7982:Poc1b	UTSW	10	99,000,764 (GRCm39)	missense	probably benign	0.28
R8172:Poc1b	UTSW	10	98,980,338 (GRCm39)	splice site	probably null
R8182:Poc1b	UTSW	10	98,991,005 (GRCm39)	splice site	probably null
R8544:Poc1b	UTSW	10	98,960,770 (GRCm39)	nonsense	probably null
R8679:Poc1b	UTSW	10	99,000,728 (GRCm39)	splice site	probably benign
R8772:Poc1b	UTSW	10	98,992,219 (GRCm39)	splice site	probably benign
R9021:Poc1b	UTSW	10	98,980,183 (GRCm39)	missense	possibly damaging	0.50
R9761:Poc1b	UTSW	10	98,965,356 (GRCm39)	missense	probably benign	0.03
Z1177:Poc1b	UTSW	10	98,980,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCACCTATCGAGCTGTGC -3'
(R):5'- GCACAGATGATACAAATGCCAG -3'

Sequencing Primer
(F):5'- TATCGAGCTGTGCCAGGCAAG -3'
(R):5'- AGAACAAAGTGCATGTGTACATATG -3'

Posted On

2021-08-31