Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:Poc1a'

234637

Institutional Source

Beutler Lab

Gene Symbol

Poc1a

Ensembl Gene

ENSMUSG00000023345

Gene Name

POC1 centriolar protein A

Synonyms

Wdr51a, 2510040D07Rik, cha

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R2154 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

106158260-106227720 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 106162773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150865 (fasta)

Gene Model

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

AlphaFold

Q8JZX3

Predicted Effect

probably null
Transcript: ENSMUST00000072206

SMART Domains

Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345

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

probably null
Transcript: ENSMUST00000072206

SMART Domains

Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345

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

probably null
Transcript: ENSMUST00000191434

SMART Domains

Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345

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

probably null
Transcript: ENSMUST00000191434

SMART Domains

Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345

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

probably null
Transcript: ENSMUST00000214208

Predicted Effect

probably null
Transcript: ENSMUST00000214208

Predicted Effect

probably null
Transcript: ENSMUST00000214483

Predicted Effect

probably null
Transcript: ENSMUST00000214483

Predicted Effect

probably benign
Transcript: ENSMUST00000214540

Predicted Effect

probably null
Transcript: ENSMUST00000216228

Predicted Effect

probably null
Transcript: ENSMUST00000216228

Predicted Effect

probably null
Transcript: ENSMUST00000216306

Predicted Effect

probably null
Transcript: ENSMUST00000216306

Predicted Effect

probably null
Transcript: ENSMUST00000217213

Predicted Effect

probably null
Transcript: ENSMUST00000217213

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abca3	A	G	17: 24,596,693 (GRCm39)	Y382C	probably damaging	Het
Abca5	A	G	11: 110,183,000 (GRCm39)	I1019T	probably benign	Het
Acox3	A	T	5: 35,762,568 (GRCm39)	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Aqr	A	C	2: 113,967,485 (GRCm39)	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,029,369 (GRCm39)	T56S	probably benign	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Aspg	A	G	12: 112,087,408 (GRCm39)	E288G	probably benign	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,267,092 (GRCm39)	L205P	probably damaging	Het
Cant1	A	G	11: 118,302,263 (GRCm39)	L18P	probably damaging	Het
Cdca2	G	A	14: 67,914,425 (GRCm39)	P945S	probably damaging	Het
Cfap74	A	G	4: 155,513,753 (GRCm39)	K522E	possibly damaging	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cpa6	A	T	1: 10,407,547 (GRCm39)	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,145,792 (GRCm39)	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,022,819 (GRCm39)	V319D	probably damaging	Het
Dapk1	T	A	13: 60,877,317 (GRCm39)	S519T	probably benign	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dock4	T	A	12: 40,870,661 (GRCm39)	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,894,547 (GRCm39)		probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Ercc6l2	T	C	13: 64,013,821 (GRCm39)	S631P	probably damaging	Het
Fat4	A	T	3: 38,941,688 (GRCm39)	S194C	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gdf10	T	C	14: 33,656,346 (GRCm39)	I436T	probably damaging	Het
Gfod1	T	C	13: 43,456,946 (GRCm39)	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,018,458 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,138,873 (GRCm39)	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,376,475 (GRCm39)	K211*	probably null	Het
Itgam	A	C	7: 127,684,749 (GRCm39)	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,089,107 (GRCm39)	F484S	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kif16b	T	C	2: 142,532,500 (GRCm39)	K1213R	probably damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,228,797 (GRCm39)	K38E	possibly damaging	Het
Myh14	A	C	7: 44,301,853 (GRCm39)		probably null	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,307,240 (GRCm39)	T562A	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Pds5a	A	T	5: 65,807,841 (GRCm39)	V464E	probably damaging	Het
Peak1	C	T	9: 56,114,496 (GRCm39)	V452M	probably damaging	Het
Phf2	T	C	13: 48,973,549 (GRCm39)	Y372C	unknown	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psmc2	C	G	5: 22,008,127 (GRCm39)	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,365,453 (GRCm39)	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,721 (GRCm39)	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945 (GRCm39)	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,516,574 (GRCm39)	D1266E	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,037,753 (GRCm39)	K125R	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Smg1	A	T	7: 117,757,299 (GRCm39)		probably benign	Het
Spinkl	A	T	18: 44,302,194 (GRCm39)	N32K	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmco6	T	C	18: 36,874,740 (GRCm39)	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235 (GRCm39)	T198A	probably damaging	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,910,965 (GRCm39)	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,805 (GRCm39)	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,212,923 (GRCm39)	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yme1l1	T	C	2: 23,052,520 (GRCm39)	L58P	probably damaging	Het
Zan	G	A	5: 137,412,511 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,466,801 (GRCm39)	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	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
IGL02792:Poc1a	APN	9	106,172,393 (GRCm39)	missense	possibly damaging	0.75
IGL02936:Poc1a	APN	9	106,162,226 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Poc1a	UTSW	9	106,227,028 (GRCm39)	missense
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

Predicted Primers

PCR Primer
(F):5'- CAACTGTATTTCGTGCACACAC -3'
(R):5'- GCTCAATGATGCTTCCCAATAAG -3'

Sequencing Primer
(F):5'- ACACACGGCCACAGTGAGG -3'
(R):5'- TCTGAAGACAGCTACAGTGTAC -3'

Posted On

2014-10-01