Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Poc1a'

359776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Poc1a

Ensembl Gene

ENSMUSG00000023345

Gene Name

POC1 centriolar protein A

Synonyms

Wdr51a, 2510040D07Rik, cha

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

106158260-106227720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106172393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 207 (I207F)

Ref Sequence

ENSEMBL: ENSMUSP00000150865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072206] [ENSMUST00000191434] [ENSMUST00000214540] [ENSMUST00000216228] [ENSMUST00000217213]

AlphaFold

Q8JZX3

Predicted Effect

probably benign
Transcript: ENSMUST00000072206
AA Change: I245F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: I245F

Domain	Start	End	E-Value	Type
WD40	8	47	1.76e-9	SMART
WD40	50	89	5.51e-11	SMART
WD40	92	131	2.45e-8	SMART
WD40	134	173	5.14e-11	SMART
WD40	176	215	5.06e-10	SMART
WD40	218	257	9.97e-9	SMART
WD40	260	299	2.67e-9	SMART
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	367	395	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188660

Predicted Effect

probably benign
Transcript: ENSMUST00000191434
AA Change: I244F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: I244F

Domain	Start	End	E-Value	Type
WD40	7	46	1.76e-9	SMART
WD40	49	88	5.51e-11	SMART
WD40	91	130	2.45e-8	SMART
WD40	133	172	5.14e-11	SMART
WD40	175	214	5.06e-10	SMART
WD40	217	256	9.97e-9	SMART
WD40	259	298	2.67e-9	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000214208
AA Change: I228F

Predicted Effect

unknown
Transcript: ENSMUST00000214483
AA Change: I228F

Predicted Effect

probably benign
Transcript: ENSMUST00000214540
AA Change: I207F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216228
AA Change: I207F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

unknown
Transcript: ENSMUST00000216306
AA Change: I228F

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217213
AA Change: I207F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

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. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
PHENOTYPE: Mice homozygous for this mutation exhibit disproportionate dwarfism and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Poc1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Poc1a	APN	9	106,182,503 (GRCm39)	missense	probably benign	0.27
IGL02936:Poc1a	APN	9	106,162,226 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Poc1a	UTSW	9	106,227,028 (GRCm39)	missense
R2154:Poc1a	UTSW	9	106,162,773 (GRCm39)	critical splice donor site	probably null
R4658:Poc1a	UTSW	9	106,226,887 (GRCm39)	missense	possibly damaging	0.95
R4811:Poc1a	UTSW	9	106,226,908 (GRCm39)	missense	probably damaging	0.96
R5058:Poc1a	UTSW	9	106,227,012 (GRCm39)	utr 3 prime	probably benign
R5059:Poc1a	UTSW	9	106,227,012 (GRCm39)	utr 3 prime	probably benign
R5060:Poc1a	UTSW	9	106,227,012 (GRCm39)	utr 3 prime	probably benign
R5461:Poc1a	UTSW	9	106,165,209 (GRCm39)	missense	probably damaging	1.00
R7592:Poc1a	UTSW	9	106,226,967 (GRCm39)	missense	probably benign	0.28
R8680:Poc1a	UTSW	9	106,226,960 (GRCm39)	missense	probably benign
R9122:Poc1a	UTSW	9	106,162,242 (GRCm39)	missense	probably benign	0.01
RF009:Poc1a	UTSW	9	106,172,417 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-12-18