Mutagenetix > Incidental Mutation

Incidental Mutation 'R9122:Poc1a'

692826

Institutional Source

Beutler Lab

Gene Symbol

Poc1a

Ensembl Gene

ENSMUSG00000023345

Gene Name

POC1 centriolar protein A

Synonyms

Wdr51a, 2510040D07Rik, cha

MMRRC Submission

068924-MU

Accession Numbers

Essential gene?

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

Stock #

R9122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106158260-106227720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106162242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000072064 (fasta)

Gene Model

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

AlphaFold

Q8JZX3

Predicted Effect

probably benign
Transcript: ENSMUST00000072206
AA Change: V89A

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

SMART Domains

Protein: ENSMUSP00000072064
Gene: ENSMUSG00000023345
AA Change: V89A

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

possibly damaging
Transcript: ENSMUST00000191434
AA Change: V88A

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140374
Gene: ENSMUSG00000023345
AA Change: V88A

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: ENSMUST00000214540
AA Change: V51A

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216228
AA Change: V51A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217213
AA Change: V51A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (42/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Armh4	A	T	14: 50,011,459 (GRCm39)	Y83N	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna1d	C	A	14: 29,845,402 (GRCm39)	R611L	probably damaging	Het
Cacna1d	G	A	14: 29,852,125 (GRCm39)	T498I	probably benign	Het
Cc2d2a	T	A	5: 43,831,081 (GRCm39)	D57E	probably null	Het
Cd180	C	A	13: 102,841,517 (GRCm39)	L188M	probably damaging	Het
Chd7	A	G	4: 8,840,510 (GRCm39)	K1426R	possibly damaging	Het
Cntnap5c	A	T	17: 58,411,601 (GRCm39)	D495V	probably benign	Het
Col11a1	T	A	3: 113,907,249 (GRCm39)	M630K	unknown	Het
Cxxc1	T	G	18: 74,350,246 (GRCm39)	D4E	probably benign	Het
Ddx31	G	A	2: 28,748,753 (GRCm39)	R227Q	probably damaging	Het
Ddx60	A	G	8: 62,442,898 (GRCm39)	M1109V	probably benign	Het
Dennd5b	T	C	6: 148,908,240 (GRCm39)	T1018A		Het
Efcab3	A	T	11: 104,856,605 (GRCm39)	D3840V	unknown	Het
Ggta1	A	T	2: 35,303,336 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gpr37l1	C	T	1: 135,095,209 (GRCm39)	V12I	probably benign	Het
Grin2a	A	T	16: 9,397,186 (GRCm39)	V967E	possibly damaging	Het
H2ac25	T	C	11: 58,845,667 (GRCm39)	L35P	probably damaging	Het
Helz	A	G	11: 107,556,830 (GRCm39)	T1283A	probably benign	Het
Ints1	A	G	5: 139,745,930 (GRCm39)	M1315T	possibly damaging	Het
Klri1	T	A	6: 129,693,995 (GRCm39)	R31*	probably null	Het
Nadk	T	A	4: 155,671,275 (GRCm39)	N226K	probably benign	Het
Ncapg	T	C	5: 45,846,015 (GRCm39)	F624S	possibly damaging	Het
Nxn	A	T	11: 76,169,317 (GRCm39)	I154N	probably damaging	Het
Pclo	T	C	5: 14,729,998 (GRCm39)	V2952A	unknown	Het
Pou2f2	T	A	7: 24,792,302 (GRCm39)	T518S	probably benign	Het
Pou5f1	C	T	17: 35,819,953 (GRCm39)	T7I	probably benign	Het
Prss44	T	C	9: 110,646,362 (GRCm39)	V363A	probably damaging	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Slc24a1	C	A	9: 64,834,478 (GRCm39)	M981I	probably benign	Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Tle3	C	T	9: 61,314,755 (GRCm39)		probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trgv1	G	A	13: 19,524,330 (GRCm39)	G18E	probably damaging	Het
Trim23	A	G	13: 104,317,681 (GRCm39)	T61A	probably benign	Het
Tshr	C	A	12: 91,478,737 (GRCm39)	H195N	probably benign	Het
Ttn	A	G	2: 76,712,151 (GRCm39)	S8202P	unknown	Het
Ufsp2	A	T	8: 46,438,441 (GRCm39)	Y248F	probably benign	Het
Vmn2r12	T	A	5: 109,240,910 (GRCm39)	I68L	probably benign	Het
Wdfy3	C	A	5: 102,091,831 (GRCm39)	V503L	probably damaging	Het
Zfp788	A	T	7: 41,299,919 (GRCm39)	K852*	probably null	Het
Zfp980	A	C	4: 145,428,834 (GRCm39)	H521P	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
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
RF009:Poc1a	UTSW	9	106,172,417 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- ACTACTCTCCTCAGCCAGTG -3'
(R):5'- CAAGGACACCAACGTTCTCG -3'

Sequencing Primer
(F):5'- AGTGGCTCCATGGACTCAAC -3'
(R):5'- AGCTCTACCCTCTGTGAGCAG -3'

Posted On

2021-12-30