Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02503:Poc1b'

296185

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 #

IGL02503

Quality Score

Status

Chromosome

Chromosomal Location

98942918-99033936 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 98980210 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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 56,008,962 (GRCm39)	W822R	probably damaging	Het
Ago4	A	T	4: 126,390,598 (GRCm39)	Y807*	probably null	Het
Alkbh8	G	A	9: 3,347,852 (GRCm39)	G215D	probably damaging	Het
Cfap57	C	T	4: 118,426,545 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Cyp4f17	T	C	17: 32,743,940 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,909,621 (GRCm39)	Y1411*	probably null	Het
Dmrtc1b	T	A	X: 101,758,366 (GRCm39)	S199T	possibly damaging	Het
Elk4	A	G	1: 131,942,277 (GRCm39)	N50D	probably damaging	Het
Filip1l	T	A	16: 57,391,938 (GRCm39)	V604E	probably benign	Het
Fmo3	A	T	1: 162,796,433 (GRCm39)	H46Q	probably benign	Het
Fndc1	T	A	17: 7,990,348 (GRCm39)	Y1116F	unknown	Het
Fpr-rs3	T	A	17: 20,844,817 (GRCm39)	N108I	probably damaging	Het
Glmn	A	T	5: 107,710,644 (GRCm39)	M316K	probably damaging	Het
Gm5591	C	A	7: 38,219,433 (GRCm39)	R480I	probably damaging	Het
Gm8122	G	T	14: 43,092,645 (GRCm39)	R39S	unknown	Het
Gprasp1	T	A	X: 134,703,279 (GRCm39)	Y1157*	probably null	Het
H2bc21	A	G	3: 96,128,539 (GRCm39)	T20A	probably benign	Het
Hsf1	T	C	15: 76,382,870 (GRCm39)	L370P	probably benign	Het
Iqsec1	T	A	6: 90,645,770 (GRCm39)	I809F	probably damaging	Het
Itsn1	G	T	16: 91,686,092 (GRCm39)	M54I	possibly damaging	Het
Klra2	T	C	6: 131,207,057 (GRCm39)	N184S	probably benign	Het
Lifr	T	A	15: 7,215,104 (GRCm39)	V737E	probably damaging	Het
Lrpprc	T	C	17: 85,033,767 (GRCm39)	T1037A	probably benign	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Megf8	T	C	7: 25,062,988 (GRCm39)	V2448A	possibly damaging	Het
Mthfd1l	T	A	10: 4,033,824 (GRCm39)	V737D	probably damaging	Het
Mtm1	A	G	X: 70,343,276 (GRCm39)	T386A	probably damaging	Het
Muc5b	T	C	7: 141,421,404 (GRCm39)	V4298A	probably benign	Het
Or10ag2	T	G	2: 87,248,636 (GRCm39)	F81L	probably benign	Het
Or5w18	A	T	2: 87,632,864 (GRCm39)	I44F	probably benign	Het
Or8k21	C	T	2: 86,144,983 (GRCm39)	G216R	possibly damaging	Het
Plch1	A	G	3: 63,605,285 (GRCm39)	S1531P	probably damaging	Het
Rictor	T	A	15: 6,815,924 (GRCm39)	N1065K	probably benign	Het
Rpsa	A	G	9: 119,957,659 (GRCm39)	E35G	possibly damaging	Het
Scfd1	T	A	12: 51,469,704 (GRCm39)	D416E	possibly damaging	Het
Sdad1	A	T	5: 92,449,661 (GRCm39)		probably benign	Het
Skor1	A	G	9: 63,053,397 (GRCm39)	S191P	probably damaging	Het
Slc28a2	T	C	2: 122,288,693 (GRCm39)	F600L	probably benign	Het
Tmem229b-ps	A	G	10: 53,351,250 (GRCm39)		noncoding transcript	Het
Top2b	A	G	14: 16,407,163 (GRCm38)	M678V	possibly damaging	Het
Ttn	T	C	2: 76,617,107 (GRCm39)	N8092S	probably damaging	Het
Ttn	C	T	2: 76,572,033 (GRCm39)	V26287I	probably damaging	Het
Tulp4	T	A	17: 6,263,666 (GRCm39)	I345N	probably damaging	Het
U2surp	C	T	9: 95,384,622 (GRCm39)	V21I	probably benign	Het
Ubr5	T	C	15: 38,018,564 (GRCm39)	T859A	possibly damaging	Het
Ubr5	T	C	15: 38,018,558 (GRCm39)	K861E	probably damaging	Het
Unc13d	A	G	11: 115,959,628 (GRCm39)	V617A	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,341 (GRCm39)	Y91C	probably damaging	Het
Vmn2r120	T	A	17: 57,816,385 (GRCm39)	I657F	probably benign	Het
Wwc2	T	C	8: 48,302,418 (GRCm39)	R931G	unknown	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
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
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

2015-04-16