Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02966:Poc1b'

365583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Poc1b

Ensembl Gene

ENSMUSG00000019952

Gene Name

POC1 centriolar protein B

Synonyms

Wdr51b, 4933430F16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02966

Quality Score

Status

Chromosome

Chromosomal Location

98942918-99033936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98980176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 136 (C136S)

Ref Sequence

ENSEMBL: ENSMUSP00000125423 (fasta)

Gene Model

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

AlphaFold

Q8BHD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020113
AA Change: C178S

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

SMART Domains

Protein: ENSMUSP00000020113
Gene: ENSMUSG00000019952
AA Change: C178S

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 damaging
Transcript: ENSMUST00000159228
AA Change: C178S

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

SMART Domains

Protein: ENSMUSP00000124144
Gene: ENSMUSG00000019952
AA Change: C178S

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 damaging
Transcript: ENSMUST00000159990
AA Change: C136S

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

SMART Domains

Protein: ENSMUSP00000125423
Gene: ENSMUSG00000019952
AA Change: C136S

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 damaging
Transcript: ENSMUST00000219884
AA Change: C178S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	T	X: 80,463,317 (GRCm39)	Y797N	possibly damaging	Het
Actbl2	G	A	13: 111,392,106 (GRCm39)	G147E	probably damaging	Het
Adam18	A	T	8: 25,101,165 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,880,556 (GRCm39)	V175I	probably benign	Het
Alox12	T	A	11: 70,140,911 (GRCm39)	T375S	probably damaging	Het
Batf2	C	A	19: 6,221,819 (GRCm39)	Q210K	probably damaging	Het
Bicd1	T	C	6: 149,385,494 (GRCm39)	S76P	probably damaging	Het
Bphl	A	T	13: 34,247,980 (GRCm39)	H251L	probably damaging	Het
C130074G19Rik	C	A	1: 184,614,943 (GRCm39)	E82D	probably damaging	Het
Calu	A	T	6: 29,356,584 (GRCm39)	K39*	probably null	Het
Capns1	T	C	7: 29,891,618 (GRCm39)	D142G	probably damaging	Het
Ccr8	T	C	9: 119,923,206 (GRCm39)	V107A	probably damaging	Het
Cep170b	G	A	12: 112,702,878 (GRCm39)	G447D	possibly damaging	Het
Chat	C	T	14: 32,170,903 (GRCm39)	V199M	probably damaging	Het
Cntnap1	G	T	11: 101,075,575 (GRCm39)	V918L	probably damaging	Het
Cyp27a1	A	G	1: 74,771,249 (GRCm39)	T145A	probably benign	Het
Dgkq	T	A	5: 108,804,287 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,369,948 (GRCm39)	I4458V	probably benign	Het
Enpp1	T	A	10: 24,536,172 (GRCm39)	E409D	probably damaging	Het
Fam78b	G	T	1: 166,906,457 (GRCm39)	L205F	probably damaging	Het
Foxr2	C	A	X: 151,913,677 (GRCm39)	R183S	probably damaging	Het
Ganc	T	C	2: 120,264,129 (GRCm39)	S361P	probably damaging	Het
Gfra4	C	A	2: 130,884,560 (GRCm39)	A15S	possibly damaging	Het
Gm8011	A	T	14: 42,287,957 (GRCm39)	D145V	unknown	Het
Gnb4	A	G	3: 32,639,372 (GRCm39)	V307A	probably benign	Het
Hdac4	A	T	1: 91,982,667 (GRCm39)	V17E	possibly damaging	Het
Herc6	G	A	6: 57,560,318 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,383 (GRCm39)	T1945A	probably benign	Het
Ica1l	A	T	1: 60,049,298 (GRCm39)	N218K	probably damaging	Het
Kmt2b	A	T	7: 30,274,887 (GRCm39)	L1939Q	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,380,499 (GRCm39)	R117C	probably damaging	Het
Megf6	T	C	4: 154,338,234 (GRCm39)	S327P	probably damaging	Het
Mocos	T	G	18: 24,809,668 (GRCm39)	C424G	probably damaging	Het
Mrpl50	A	G	4: 49,521,014 (GRCm39)	W14R	probably benign	Het
Mysm1	A	T	4: 94,863,523 (GRCm39)	D23E	probably benign	Het
Naa35	T	A	13: 59,734,085 (GRCm39)	D34E	probably benign	Het
Nid1	A	G	13: 13,656,806 (GRCm39)	I646V	probably benign	Het
Nupr1	T	C	7: 126,224,073 (GRCm39)		probably benign	Het
Or2aj6	G	T	16: 19,443,051 (GRCm39)	H266Q	probably damaging	Het
Or5b24	A	T	19: 12,912,164 (GRCm39)	I21F	probably benign	Het
Or8b12b	T	G	9: 37,684,882 (GRCm39)	L309R	probably benign	Het
Pcbp2	A	C	15: 102,392,684 (GRCm39)		probably benign	Het
Pde8b	T	C	13: 95,232,156 (GRCm39)	Q158R	probably damaging	Het
Pdzd8	T	C	19: 59,289,291 (GRCm39)	Y703C	probably damaging	Het
Plxnb3	T	C	X: 72,808,889 (GRCm39)	S885P	probably benign	Het
Pole2	T	C	12: 69,256,649 (GRCm39)	D292G	probably damaging	Het
Prpf39	T	C	12: 65,089,553 (GRCm39)	V97A	probably benign	Het
Rbbp8	T	A	18: 11,838,869 (GRCm39)	H183Q	possibly damaging	Het
Scn2a	C	T	2: 65,532,188 (GRCm39)	T600M	possibly damaging	Het
Spata32	T	C	11: 103,099,629 (GRCm39)	Q292R	possibly damaging	Het
Sugp1	T	C	8: 70,523,758 (GRCm39)		probably benign	Het
Sult3a1	A	C	10: 33,753,269 (GRCm39)		probably benign	Het
Tpm3-rs7	C	T	14: 113,552,810 (GRCm39)	Q235*	probably null	Het
Trbv2	A	T	6: 41,024,685 (GRCm39)	T34S	possibly damaging	Het
Tssk6	A	G	8: 70,355,535 (GRCm39)	Y193C	probably benign	Het
Ttn	T	C	2: 76,538,802 (GRCm39)	K34676R	possibly damaging	Het
Ugt3a1	T	C	15: 9,370,154 (GRCm39)	Y433H	probably damaging	Het
Wdhd1	T	C	14: 47,479,101 (GRCm39)	K1072E	possibly 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
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
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

Posted On

2015-12-18