Mutagenetix > Incidental Mutation

Incidental Mutation 'R4658:Poc1a'

352607

Institutional Source

Beutler Lab

Gene Symbol

Poc1a

Ensembl Gene

ENSMUSG00000023345

Gene Name

POC1 centriolar protein A

Synonyms

Wdr51a, 2510040D07Rik, cha

MMRRC Submission

041918-MU

Accession Numbers

Essential gene?

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

Stock #

R4658 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

106158260-106227720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106226887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 327 (S327P)

Ref Sequence

ENSEMBL: ENSMUSP00000140374 (fasta)

Gene Model

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

AlphaFold

Q8JZX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072206
AA Change: S376P

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: S376P

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: ENSMUST00000186366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189325

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191434
AA Change: S327P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: S327P

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 benign
Transcript: ENSMUST00000214208

Predicted Effect

unknown
Transcript: ENSMUST00000214483
AA Change: S364P

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216228
AA Change: S338P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000216306
AA Change: V373A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217213
AA Change: S338P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000214540

Meta Mutation Damage Score

0.0851

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,625 (GRCm39)	R778S	probably damaging	Het
Adam17	A	G	12: 21,382,161 (GRCm39)	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,432,825 (GRCm39)	A758V	probably damaging	Het
Atrn	T	C	2: 130,775,349 (GRCm39)	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,902,996 (GRCm39)	T118A	possibly damaging	Het
Camta1	A	G	4: 151,228,367 (GRCm39)	C822R	probably damaging	Het
Capn15	G	T	17: 26,179,742 (GRCm39)	Q807K	probably benign	Het
Clec12a	T	C	6: 129,331,493 (GRCm39)	Y145H	probably damaging	Het
Clk1	T	C	1: 58,452,146 (GRCm39)	I393V	probably benign	Het
Cpm	A	G	10: 117,503,956 (GRCm39)	I121V	probably benign	Het
Cux1	A	G	5: 136,279,448 (GRCm39)	I405T	possibly damaging	Het
Dnah3	A	G	7: 119,549,874 (GRCm39)	S3471P	probably damaging	Het
Dok6	A	G	18: 89,491,971 (GRCm39)		probably benign	Het
Eif4g1	A	T	16: 20,504,684 (GRCm39)	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 137,933,443 (GRCm39)	E1756G	probably damaging	Het
Exo5	A	G	4: 120,779,748 (GRCm39)	V39A	probably benign	Het
Fmnl1	A	T	11: 103,088,520 (GRCm39)	I90F	probably damaging	Het
Fryl	G	T	5: 73,238,396 (GRCm39)	T1450K	probably damaging	Het
Gde1	T	C	7: 118,293,751 (GRCm39)	M91V	probably benign	Het
Gimd1	T	C	3: 132,350,343 (GRCm39)	I84T	probably damaging	Het
Gm13889	C	T	2: 93,787,453 (GRCm39)		probably benign	Het
Gm6445	T	A	19: 9,585,561 (GRCm39)		noncoding transcript	Het
Gm8113	T	C	14: 44,169,867 (GRCm39)	S483P	probably damaging	Het
Grik2	T	C	10: 49,399,888 (GRCm39)	I281V	possibly damaging	Het
Grik5	T	C	7: 24,760,152 (GRCm39)		probably benign	Het
Herc1	A	T	9: 66,386,773 (GRCm39)	I3796F	possibly damaging	Het
Hoxb13	A	T	11: 96,085,309 (GRCm39)	D14V	probably benign	Het
Hspg2	A	G	4: 137,261,041 (GRCm39)	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,363,762 (GRCm39)	R87S	probably damaging	Het
Ints1	A	T	5: 139,760,054 (GRCm39)	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,078,917 (GRCm39)	D505E	possibly damaging	Het
Kcnu1	G	A	8: 26,427,583 (GRCm39)	C300Y	probably damaging	Het
Kmt2d	G	C	15: 98,750,410 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,578,493 (GRCm39)	V539A	probably benign	Het
Lipo5	C	T	19: 33,441,922 (GRCm39)	G200D	unknown	Het
Lmo7	C	A	14: 102,124,393 (GRCm39)	A284D	probably damaging	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,321,285 (GRCm39)	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749 (GRCm39)		probably null	Het
Mphosph10	A	G	7: 64,038,722 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,395,135 (GRCm39)	S47N	unknown	Het
Notch3	A	T	17: 32,373,737 (GRCm39)	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,662,738 (GRCm39)	S85L	possibly damaging	Het
Obscn	T	A	11: 58,945,114 (GRCm39)	R4635*	probably null	Het
Or10al5	G	T	17: 38,063,054 (GRCm39)	C103F	probably damaging	Het
Or13f5	T	C	4: 52,826,240 (GRCm39)	L281P	probably damaging	Het
Or9i16	T	C	19: 13,864,912 (GRCm39)	I221V	probably benign	Het
Pappa	G	A	4: 65,233,033 (GRCm39)		probably null	Het
Pcdhb17	G	A	18: 37,619,652 (GRCm39)	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Phf3	A	T	1: 30,902,169 (GRCm39)	M48K	probably damaging	Het
Pira2	A	T	7: 3,843,933 (GRCm39)	V613E	probably damaging	Het
Ptpn9	A	G	9: 56,927,321 (GRCm39)	H66R	probably benign	Het
Rabgap1	C	T	2: 37,377,561 (GRCm39)	R353*	probably null	Het
Rcc1l	G	T	5: 134,200,729 (GRCm39)	N134K	probably damaging	Het
Rims1	G	A	1: 22,497,793 (GRCm39)	T787I	probably damaging	Het
Rreb1	T	G	13: 38,132,777 (GRCm39)	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,019,238 (GRCm39)	D100G	probably damaging	Het
Samd4	C	T	14: 47,301,703 (GRCm39)	R147C	probably damaging	Het
Serpinb6e	T	C	13: 34,025,299 (GRCm39)		probably benign	Het
Ska1	T	C	18: 74,330,111 (GRCm39)	I210V	probably benign	Het
Slc17a1	A	G	13: 24,062,543 (GRCm39)	I237V	probably benign	Het
Slc22a4	A	T	11: 53,888,336 (GRCm39)	S231T	probably benign	Het
Slc7a4	T	A	16: 17,393,797 (GRCm39)	M66L	probably damaging	Het
Snapc1	A	G	12: 74,030,642 (GRCm39)	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,575,351 (GRCm39)		probably benign	Het
Taar2	C	T	10: 23,817,401 (GRCm39)	L314F	probably benign	Het
Tmem74b	A	G	2: 151,548,561 (GRCm39)	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,131,833 (GRCm39)	F6S	probably benign	Het
Tpp2	G	T	1: 43,993,870 (GRCm39)	G252W	probably damaging	Het
Trf	A	G	9: 103,100,807 (GRCm39)	F209L	probably damaging	Het
Ttn	T	C	2: 76,728,935 (GRCm39)		probably benign	Het
Uhmk1	A	T	1: 170,034,774 (GRCm39)	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,840,108 (GRCm39)	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,250,144 (GRCm39)	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,697,390 (GRCm39)	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,258,070 (GRCm39)	N381S	probably benign	Het
Zfp879	T	A	11: 50,724,024 (GRCm39)	Y271F	probably 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
R2154:Poc1a	UTSW	9	106,162,773 (GRCm39)	critical splice donor site	probably null
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'- TGGAGGCTATGAGATCTGTCCTC -3'
(R):5'- AGATGTGGCTCTCTCAGGTG -3'

Sequencing Primer
(F):5'- GGCTATGAGATCTGTCCTCTGTCTTC -3'
(R):5'- CAGGTGGGATCCCTTTATTTATTTAC -3'

Posted On

2015-10-08