Mutagenetix > Incidental Mutation

Incidental Mutation 'R8679:Poc1b'

679778

Institutional Source

Beutler Lab

Gene Symbol

Poc1b

Ensembl Gene

ENSMUSG00000019952

Gene Name

POC1 centriolar protein B

Synonyms

Wdr51b, 4933430F16Rik

MMRRC Submission

068534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98942918-99033936 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 99000728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151221 (fasta)

Gene Model

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

AlphaFold

Q8BHD1

Predicted Effect

probably benign
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: 98.4%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,152,479 (GRCm39)	T1356A	possibly damaging	Het
Ace3	A	G	11: 105,886,701 (GRCm39)	T154A	probably benign	Het
Arhgap31	C	A	16: 38,422,966 (GRCm39)	Q1033H	probably damaging	Het
C1qtnf1	C	T	11: 118,337,340 (GRCm39)	R57*	probably null	Het
Cacna1g	T	C	11: 94,319,962 (GRCm39)	T1405A	probably damaging	Het
Cacna1i	A	G	15: 80,260,011 (GRCm39)		probably benign	Het
Cdca4	T	A	12: 112,785,734 (GRCm39)		probably null	Het
Cpa4	T	A	6: 30,585,158 (GRCm39)	M314K	probably damaging	Het
Cpn2	A	T	16: 30,078,085 (GRCm39)	S539T	possibly damaging	Het
Crebbp	A	G	16: 3,902,322 (GRCm39)	S2306P	probably damaging	Het
Cspg4b	A	G	13: 113,488,163 (GRCm39)	R9G		Het
Dcaf5	T	C	12: 80,385,807 (GRCm39)	H773R	probably benign	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Dnah1	G	T	14: 30,989,767 (GRCm39)	R3250S	possibly damaging	Het
Dnajc25	A	C	4: 59,020,195 (GRCm39)	K206T	possibly damaging	Het
Dnajc27	T	C	12: 4,146,325 (GRCm39)	L118P	possibly damaging	Het
Etl4	C	T	2: 20,714,288 (GRCm39)	T129I	probably damaging	Het
Faap100	A	G	11: 120,263,003 (GRCm39)	I785T	probably damaging	Het
Fam227b	A	T	2: 125,830,928 (GRCm39)	D425E	probably benign	Het
Fat4	C	G	3: 39,064,842 (GRCm39)	L4933V	probably damaging	Het
Fbrsl1	A	G	5: 110,526,086 (GRCm39)	F39L	probably damaging	Het
Fezf1	A	G	6: 23,247,769 (GRCm39)	V102A	probably benign	Het
Gabra2	T	C	5: 71,170,040 (GRCm39)		probably benign	Het
Garnl3	C	A	2: 32,916,106 (GRCm39)	R346L	probably damaging	Het
Grin2a	A	T	16: 9,403,089 (GRCm39)	I799N	possibly damaging	Het
Hspa4	A	G	11: 53,160,691 (GRCm39)	F462L	probably damaging	Het
Iars1	C	A	13: 49,856,675 (GRCm39)		probably benign	Het
Igkv6-32	C	T	6: 70,051,063 (GRCm39)	V98M	possibly damaging	Het
Il31ra	A	G	13: 112,662,372 (GRCm39)	F560S	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif2a	G	A	13: 107,116,049 (GRCm39)	T299I	probably damaging	Het
Leo1	T	A	9: 75,373,544 (GRCm39)	Y656*	probably null	Het
Lpcat2	T	A	8: 93,635,864 (GRCm39)	V422D	probably damaging	Het
Lrrcc1	T	A	3: 14,601,084 (GRCm39)	S39T	probably benign	Het
Macf1	A	T	4: 123,405,869 (GRCm39)	S341T	probably benign	Het
Mc2r	T	A	18: 68,540,879 (GRCm39)	Y138F	probably damaging	Het
Mepe	A	G	5: 104,485,754 (GRCm39)	N298S	possibly damaging	Het
Mmp15	C	A	8: 96,092,982 (GRCm39)	N120K	possibly damaging	Het
Mrps9	A	G	1: 42,918,915 (GRCm39)	R106G	probably damaging	Het
Muc16	T	A	9: 18,557,744 (GRCm39)	M2850L	unknown	Het
Mxra8	T	A	4: 155,927,122 (GRCm39)	I352N	probably damaging	Het
Myo16	G	A	8: 10,411,042 (GRCm39)	V167I	unknown	Het
Neb	T	C	2: 52,215,051 (GRCm39)	D209G	probably damaging	Het
Nlgn2	A	G	11: 69,716,309 (GRCm39)	V744A	probably benign	Het
Notch2	A	G	3: 98,029,218 (GRCm39)		probably null	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Or14c42-ps1	A	T	7: 86,211,147 (GRCm39)	H69L	unknown	Het
Or5ak20	T	C	2: 85,183,953 (GRCm39)	T106A	probably benign	Het
Or5k16	G	A	16: 58,736,843 (GRCm39)	R54C	probably benign	Het
Or9k2b	T	C	10: 130,016,702 (GRCm39)	I16V	probably benign	Het
Oxa1l	A	G	14: 54,605,248 (GRCm39)		probably null	Het
Piwil4	T	C	9: 14,616,322 (GRCm39)	D15G		Het
Plcz1	C	A	6: 139,949,612 (GRCm39)	W461L	probably damaging	Het
Plek	A	T	11: 16,944,676 (GRCm39)	I118N	probably damaging	Het
Potefam1	A	T	2: 111,059,567 (GRCm39)	M64K	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Prss36	T	C	7: 127,532,635 (GRCm39)	T739A	possibly damaging	Het
Psme2	A	T	14: 55,827,074 (GRCm39)		probably null	Het
Ptprb	T	G	10: 116,203,495 (GRCm39)	V1802G	probably damaging	Het
Rabep2	C	A	7: 126,034,848 (GRCm39)	Y84*	probably null	Het
Rbbp6	T	G	7: 122,600,516 (GRCm39)	S1508A	unknown	Het
Rel	A	T	11: 23,692,430 (GRCm39)	D534E	probably benign	Het
Rpgrip1	G	A	14: 52,396,852 (GRCm39)	S1258N	probably damaging	Het
Rprml	T	C	11: 103,540,953 (GRCm39)	L116P	probably damaging	Het
Rsph10b	A	G	5: 143,887,112 (GRCm39)	T323A	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,099 (GRCm39)	H177R	probably damaging	Het
Sag	A	G	1: 87,738,032 (GRCm39)	T24A	probably benign	Het
Scgb2b26	G	T	7: 33,643,784 (GRCm39)	T52N	probably damaging	Het
Scn10a	T	C	9: 119,501,194 (GRCm39)	I197V	probably damaging	Het
Sec24c	T	A	14: 20,742,927 (GRCm39)	V1003D	possibly damaging	Het
Sirt2	G	A	7: 28,471,261 (GRCm39)	G30E	probably damaging	Het
Slc13a5	T	A	11: 72,149,919 (GRCm39)	Q197L	probably benign	Het
Slc44a3	A	T	3: 121,283,918 (GRCm39)	S445T	probably damaging	Het
Slc7a7	A	T	14: 54,610,449 (GRCm39)	V399E	probably benign	Het
Smarcad1	T	A	6: 65,088,865 (GRCm39)	D1000E	probably benign	Het
Sorcs2	G	T	5: 36,196,657 (GRCm39)	Q663K	probably benign	Het
Stat4	A	G	1: 52,118,991 (GRCm39)	R345G	probably null	Het
Sycp2	G	A	2: 177,992,768 (GRCm39)	R1261C	probably damaging	Het
Tcf19	T	C	17: 35,825,381 (GRCm39)	I259V	probably benign	Het
Thada	T	A	17: 84,536,637 (GRCm39)	R1636S	probably benign	Het
Tnrc6c	T	C	11: 117,604,961 (GRCm39)	L32P	probably benign	Het
Tonsl	G	A	15: 76,517,076 (GRCm39)	T881I	probably benign	Het
Tonsl	A	C	15: 76,518,263 (GRCm39)	C570G	probably damaging	Het
Ube2o	C	A	11: 116,432,273 (GRCm39)	E898*	probably null	Het
Usp5	T	C	6: 124,794,394 (GRCm39)	H762R	possibly damaging	Het
Vmn2r15	A	G	5: 109,434,779 (GRCm39)	S642P	probably benign	Het
Vmn2r23	T	C	6: 123,690,431 (GRCm39)	W436R	probably damaging	Het
Vps13d	A	C	4: 144,811,977 (GRCm39)	I3343M		Het
Wbp11	T	C	6: 136,799,932 (GRCm39)	K83E	probably damaging	Het
Zfp26	T	A	9: 20,356,201 (GRCm39)	N36Y	possibly damaging	Het
Zfp57	T	A	17: 37,320,938 (GRCm39)	I264N	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
R8772:Poc1b	UTSW	10	98,992,219 (GRCm39)	splice site	probably benign
R8931:Poc1b	UTSW	10	99,028,861 (GRCm39)	critical splice donor site	probably null
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'- AAATGGCCATTTCCTGCTTAAC -3'
(R):5'- GCTGTGCTGAAAGGTTAGGC -3'

Sequencing Primer
(F):5'- CTGCAACATTGTCGATAGTGTGTAC -3'
(R):5'- AAAGGTTAGGCCACCGAGCTC -3'

Posted On

2021-08-11