Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Pcm1'

63656

Institutional Source

Beutler Lab

Gene Symbol

Pcm1

Ensembl Gene

ENSMUSG00000031592

Gene Name

pericentriolar material 1

Synonyms

9430077F19Rik, C030044G17Rik, 2600002H09Rik

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0725 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

41692789-41785381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 41740848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1031 (E1031D)

Ref Sequence

ENSEMBL: ENSMUSP00000147887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000211247]

AlphaFold

Q9R0L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045218
AA Change: E992D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: E992D

Domain	Start	End	E-Value	Type
coiled coil region	218	238	N/A	INTRINSIC
coiled coil region	270	301	N/A	INTRINSIC
coiled coil region	399	426	N/A	INTRINSIC
coiled coil region	492	520	N/A	INTRINSIC
low complexity region	527	548	N/A	INTRINSIC
low complexity region	622	647	N/A	INTRINSIC
coiled coil region	652	683	N/A	INTRINSIC
coiled coil region	724	772	N/A	INTRINSIC
coiled coil region	822	856	N/A	INTRINSIC
coiled coil region	988	1017	N/A	INTRINSIC
low complexity region	1021	1033	N/A	INTRINSIC
low complexity region	1287	1301	N/A	INTRINSIC
Pfam:PCM1_C	1369	1999	3.6e-295	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000211247
AA Change: E1031D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asph	C	T	4: 9,542,275 (GRCm39)	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,170,205 (GRCm39)	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,026,264 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,834 (GRCm39)		probably benign	Het
Cep55	T	C	19: 38,048,622 (GRCm39)	S93P	possibly damaging	Het
Cfap300	A	T	9: 8,027,144 (GRCm39)	D131E	probably damaging	Het
Cfh	A	G	1: 140,085,081 (GRCm39)		probably benign	Het
Clptm1l	A	G	13: 73,754,462 (GRCm39)	T129A	probably benign	Het
Cntnap5a	A	G	1: 116,220,206 (GRCm39)	E672G	probably benign	Het
Cpped1	C	A	16: 11,646,314 (GRCm39)	W170L	probably damaging	Het
Crygb	T	C	1: 65,121,100 (GRCm39)	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,931,746 (GRCm39)	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,484,024 (GRCm39)	D395G	probably damaging	Het
Dll4	T	C	2: 119,163,170 (GRCm39)	V597A	probably damaging	Het
Dock7	T	C	4: 98,833,528 (GRCm39)	D1891G	probably damaging	Het
Dsel	T	C	1: 111,787,682 (GRCm39)	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497 (GRCm39)	V3603F	possibly damaging	Het
Fam167b	C	A	4: 129,472,078 (GRCm39)	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,852,539 (GRCm39)	I25N	probably damaging	Het
Gzf1	C	T	2: 148,526,569 (GRCm39)	R347*	probably null	Het
Heatr5b	T	A	17: 79,103,825 (GRCm39)	I1117F	probably benign	Het
Kntc1	T	C	5: 123,907,767 (GRCm39)	V456A	possibly damaging	Het
Macc1	C	A	12: 119,411,251 (GRCm39)	S673*	probably null	Het
Mpp4	T	C	1: 59,160,581 (GRCm39)	E574G	probably damaging	Het
Muc20	C	T	16: 32,613,858 (GRCm39)	M506I	probably benign	Het
Ncbp1	A	G	4: 46,152,056 (GRCm39)	T218A	probably benign	Het
Nfxl1	A	T	5: 72,716,473 (GRCm39)	V46E	probably benign	Het
Nfyc	G	T	4: 120,625,931 (GRCm39)		probably benign	Het
Niban1	A	G	1: 151,581,766 (GRCm39)	E454G	probably benign	Het
Or51f5	T	A	7: 102,423,739 (GRCm39)	S3T	probably benign	Het
Or8g55	A	T	9: 39,784,643 (GRCm39)	Q24L	probably damaging	Het
Osbpl8	T	C	10: 111,122,101 (GRCm39)	F681S	possibly damaging	Het
Pdcd11	A	G	19: 47,115,730 (GRCm39)	E1486G	probably benign	Het
Pex12	G	T	11: 83,188,860 (GRCm39)	A45E	probably damaging	Het
Pheta1	T	A	5: 121,991,314 (GRCm39)	H225Q	probably benign	Het
Pigm	A	G	1: 172,204,384 (GRCm39)	D40G	probably damaging	Het
Pkp1	G	T	1: 135,808,478 (GRCm39)	N496K	probably benign	Het
Psmc4	T	C	7: 27,748,287 (GRCm39)	I54V	probably benign	Het
Rbm33	T	C	5: 28,599,481 (GRCm39)	V951A	unknown	Het
Selenbp2	G	T	3: 94,604,809 (GRCm39)		probably benign	Het
Slc3a1	G	A	17: 85,368,263 (GRCm39)	W510*	probably null	Het
Stx12	A	C	4: 132,584,701 (GRCm39)		probably benign	Het
Tas2r125	G	T	6: 132,887,085 (GRCm39)	D158Y	probably benign	Het
Tchp	C	A	5: 114,857,682 (GRCm39)	Q392K	probably benign	Het
Tmed11	T	A	5: 108,926,855 (GRCm39)	D139V	probably damaging	Het
Ttn	C	T	2: 76,578,654 (GRCm39)	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,683,722 (GRCm39)	G4967D	probably damaging	Het
Vezf1	T	C	11: 87,964,156 (GRCm39)	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,315,043 (GRCm39)	S248P	probably damaging	Het
Yipf2	G	C	9: 21,503,519 (GRCm39)		probably null	Het
Zfp110	A	T	7: 12,570,290 (GRCm39)	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,605,039 (GRCm39)	C623S	probably damaging	Het

Other mutations in Pcm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Pcm1	APN	8	41,727,314 (GRCm39)	missense	probably damaging	1.00
IGL00852:Pcm1	APN	8	41,740,858 (GRCm39)	missense	probably damaging	1.00
IGL00896:Pcm1	APN	8	41,729,160 (GRCm39)	missense	possibly damaging	0.70
IGL00927:Pcm1	APN	8	41,740,918 (GRCm39)	missense	probably damaging	1.00
IGL01085:Pcm1	APN	8	41,762,640 (GRCm39)	missense	probably damaging	1.00
IGL01684:Pcm1	APN	8	41,710,960 (GRCm39)	missense	probably benign	0.00
IGL01888:Pcm1	APN	8	41,710,993 (GRCm39)	missense	probably damaging	0.98
IGL02349:Pcm1	APN	8	41,741,192 (GRCm39)	critical splice donor site	probably null
IGL02562:Pcm1	APN	8	41,778,405 (GRCm39)	missense	probably damaging	1.00
IGL02807:Pcm1	APN	8	41,783,919 (GRCm39)	missense	probably damaging	1.00
IGL03081:Pcm1	APN	8	41,728,097 (GRCm39)	missense	probably damaging	1.00
R0090_Pcm1_148	UTSW	8	41,709,078 (GRCm39)	missense	probably damaging	0.99
R1534_pcm1_826	UTSW	8	41,740,738 (GRCm39)	missense	probably benign
R8169_pcm1_970	UTSW	8	41,763,153 (GRCm39)	missense	possibly damaging	0.58
shaved	UTSW	8	41,741,193 (GRCm39)	critical splice donor site	probably null
D3080:Pcm1	UTSW	8	41,728,976 (GRCm39)	missense	probably damaging	1.00
P0045:Pcm1	UTSW	8	41,741,134 (GRCm39)	missense	probably damaging	0.99
R0090:Pcm1	UTSW	8	41,709,078 (GRCm39)	missense	probably damaging	0.99
R0109:Pcm1	UTSW	8	41,710,974 (GRCm39)	missense	possibly damaging	0.88
R0373:Pcm1	UTSW	8	41,729,148 (GRCm39)	nonsense	probably null
R0386:Pcm1	UTSW	8	41,769,060 (GRCm39)	missense	probably damaging	1.00
R0452:Pcm1	UTSW	8	41,778,942 (GRCm39)	missense	probably benign	0.25
R0498:Pcm1	UTSW	8	41,746,806 (GRCm39)	missense	probably benign	0.01
R0528:Pcm1	UTSW	8	41,768,967 (GRCm39)	missense	probably damaging	1.00
R0587:Pcm1	UTSW	8	41,739,088 (GRCm39)	missense	probably damaging	0.99
R0635:Pcm1	UTSW	8	41,720,216 (GRCm39)	splice site	probably benign
R0762:Pcm1	UTSW	8	41,714,057 (GRCm39)	missense	probably damaging	1.00
R0848:Pcm1	UTSW	8	41,735,720 (GRCm39)	missense	probably damaging	1.00
R1027:Pcm1	UTSW	8	41,746,482 (GRCm39)	splice site	probably benign
R1056:Pcm1	UTSW	8	41,774,937 (GRCm39)	missense	probably damaging	1.00
R1534:Pcm1	UTSW	8	41,740,738 (GRCm39)	missense	probably benign
R1566:Pcm1	UTSW	8	41,743,810 (GRCm39)	missense	probably damaging	1.00
R1595:Pcm1	UTSW	8	41,762,672 (GRCm39)	missense	probably damaging	1.00
R1719:Pcm1	UTSW	8	41,766,396 (GRCm39)	missense	possibly damaging	0.62
R1816:Pcm1	UTSW	8	41,762,574 (GRCm39)	missense	probably damaging	0.99
R2177:Pcm1	UTSW	8	41,729,002 (GRCm39)	missense	probably benign
R2495:Pcm1	UTSW	8	41,746,616 (GRCm39)	missense	probably benign
R3737:Pcm1	UTSW	8	41,714,080 (GRCm39)	nonsense	probably null
R3747:Pcm1	UTSW	8	41,785,041 (GRCm39)	missense	probably benign	0.44
R3763:Pcm1	UTSW	8	41,733,114 (GRCm39)	missense	probably damaging	1.00
R3764:Pcm1	UTSW	8	41,783,919 (GRCm39)	missense	probably damaging	1.00
R3798:Pcm1	UTSW	8	41,711,051 (GRCm39)	missense	possibly damaging	0.66
R3968:Pcm1	UTSW	8	41,778,867 (GRCm39)	missense	probably damaging	1.00
R4760:Pcm1	UTSW	8	41,740,775 (GRCm39)	missense	probably damaging	0.99
R4798:Pcm1	UTSW	8	41,746,715 (GRCm39)	missense	probably damaging	1.00
R5062:Pcm1	UTSW	8	41,712,297 (GRCm39)	missense	probably damaging	0.99
R5221:Pcm1	UTSW	8	41,741,193 (GRCm39)	critical splice donor site	probably null
R5250:Pcm1	UTSW	8	41,765,242 (GRCm39)	missense	probably damaging	0.99
R5466:Pcm1	UTSW	8	41,725,499 (GRCm39)	critical splice donor site	probably null
R5470:Pcm1	UTSW	8	41,740,720 (GRCm39)	missense	probably damaging	1.00
R5958:Pcm1	UTSW	8	41,782,016 (GRCm39)	missense	probably damaging	1.00
R6043:Pcm1	UTSW	8	41,781,815 (GRCm39)	missense	possibly damaging	0.54
R6179:Pcm1	UTSW	8	41,736,669 (GRCm39)	missense	probably damaging	0.99
R6186:Pcm1	UTSW	8	41,746,830 (GRCm39)	missense	probably benign	0.23
R6227:Pcm1	UTSW	8	41,783,862 (GRCm39)	missense	probably damaging	0.99
R6368:Pcm1	UTSW	8	41,746,581 (GRCm39)	missense	probably benign	0.09
R6438:Pcm1	UTSW	8	41,778,418 (GRCm39)	missense	possibly damaging	0.94
R6459:Pcm1	UTSW	8	41,714,073 (GRCm39)	missense	probably damaging	1.00
R7399:Pcm1	UTSW	8	41,746,547 (GRCm39)	missense	probably benign	0.11
R7401:Pcm1	UTSW	8	41,762,568 (GRCm39)	missense	probably damaging	1.00
R7478:Pcm1	UTSW	8	41,714,410 (GRCm39)	missense	probably benign	0.17
R7570:Pcm1	UTSW	8	41,720,381 (GRCm39)	missense	possibly damaging	0.64
R7648:Pcm1	UTSW	8	41,728,736 (GRCm39)	missense	probably damaging	0.99
R7773:Pcm1	UTSW	8	41,762,610 (GRCm39)	nonsense	probably null
R7779:Pcm1	UTSW	8	41,782,061 (GRCm39)	missense	probably damaging	1.00
R7842:Pcm1	UTSW	8	41,780,621 (GRCm39)	missense	possibly damaging	0.54
R7863:Pcm1	UTSW	8	41,714,163 (GRCm39)	missense	probably damaging	0.99
R8169:Pcm1	UTSW	8	41,763,153 (GRCm39)	missense	possibly damaging	0.58
R8210:Pcm1	UTSW	8	41,766,974 (GRCm39)	missense	probably damaging	1.00
R8303:Pcm1	UTSW	8	41,736,758 (GRCm39)	missense	probably damaging	1.00
R8397:Pcm1	UTSW	8	41,736,616 (GRCm39)	missense	probably damaging	1.00
R8489:Pcm1	UTSW	8	41,766,437 (GRCm39)	missense	probably benign	0.19
R8519:Pcm1	UTSW	8	41,728,976 (GRCm39)	missense	probably damaging	1.00
R9136:Pcm1	UTSW	8	41,732,825 (GRCm39)	missense	probably benign	0.19
R9245:Pcm1	UTSW	8	41,732,877 (GRCm39)	missense	probably damaging	0.99
R9263:Pcm1	UTSW	8	41,732,790 (GRCm39)	missense	probably benign	0.00
R9406:Pcm1	UTSW	8	41,728,722 (GRCm39)	missense	probably damaging	0.99
R9412:Pcm1	UTSW	8	41,740,788 (GRCm39)	missense	probably damaging	1.00
R9541:Pcm1	UTSW	8	41,780,616 (GRCm39)	missense	probably benign	0.09
R9698:Pcm1	UTSW	8	41,723,541 (GRCm39)	missense	possibly damaging	0.95
R9716:Pcm1	UTSW	8	41,728,168 (GRCm39)	missense	probably damaging	0.98
R9747:Pcm1	UTSW	8	41,757,135 (GRCm39)	missense	probably benign	0.00
R9781:Pcm1	UTSW	8	41,720,398 (GRCm39)	missense	probably damaging	0.99
X0025:Pcm1	UTSW	8	41,783,679 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcm1	UTSW	8	41,740,781 (GRCm39)	missense	probably damaging	0.99
Z1177:Pcm1	UTSW	8	41,727,208 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AACTGTGCCACTTGATGAAGTCAAGAA -3'
(R):5'- GGACGCCACATTACTAGGCAGAAC -3'

Sequencing Primer
(F):5'- GATGGGCTGAAAATGCTATTTCC -3'
(R):5'- CGGACCTGTTAGAAGAGTCTGC -3'

Posted On

2013-07-30