Mutagenetix > Incidental Mutation

Incidental Mutation 'R5466:Pcm1'

433243

Institutional Source

Beutler Lab

Gene Symbol

Pcm1

Ensembl Gene

ENSMUSG00000031592

Gene Name

pericentriolar material 1

Synonyms

9430077F19Rik, C030044G17Rik, 2600002H09Rik

MMRRC Submission

043027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41692789-41785381 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 41725499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147887 (fasta)

Gene Model

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

AlphaFold

Q9R0L6

Predicted Effect

probably null
Transcript: ENSMUST00000045218

SMART Domains

Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592

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

noncoding transcript
Transcript: ENSMUST00000211090

Predicted Effect

probably null
Transcript: ENSMUST00000211247

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,541,733 (GRCm39)	A17E	probably benign	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Aox1	G	C	1: 58,080,619 (GRCm39)	E23Q	probably damaging	Het
Arap3	A	G	18: 38,129,789 (GRCm39)	V124A	probably benign	Het
Armc5	A	G	7: 127,839,336 (GRCm39)	N218S	probably damaging	Het
Cacna2d1	T	A	5: 16,451,712 (GRCm39)	V192E	probably damaging	Het
Col6a5	T	A	9: 105,808,282 (GRCm39)	E922V	unknown	Het
Dennd4b	G	A	3: 90,175,807 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,493,007 (GRCm39)	D1256G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,325,684 (GRCm39)	E707G	probably damaging	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fgf11	T	C	11: 69,690,267 (GRCm39)	I107V	probably damaging	Het
Fuca2	C	T	10: 13,388,441 (GRCm39)	Q406*	probably null	Het
Gm10428	A	G	11: 62,643,932 (GRCm39)		probably benign	Het
Gm17430	A	G	18: 9,726,228 (GRCm39)	V148A	probably benign	Het
Gm5930	A	T	14: 44,575,014 (GRCm39)	N57K	probably damaging	Het
Gucy2c	T	A	6: 136,758,463 (GRCm39)	K48*	probably null	Het
Ip6k2	C	T	9: 108,675,661 (GRCm39)	R109C	probably damaging	Het
Kif21b	T	A	1: 136,075,263 (GRCm39)	F159I	probably damaging	Het
Macf1	A	T	4: 123,346,658 (GRCm39)	S1981T	possibly damaging	Het
Mga	T	A	2: 119,733,178 (GRCm39)	L9M	probably damaging	Het
Mov10l1	T	C	15: 88,869,904 (GRCm39)		probably null	Het
Msrb1	A	T	17: 24,958,533 (GRCm39)	H39L	possibly damaging	Het
Or4c117	A	T	2: 88,955,477 (GRCm39)	F199L	probably benign	Het
Or6b1	A	T	6: 42,815,027 (GRCm39)	T71S	probably benign	Het
Pcdha1	G	A	18: 37,065,312 (GRCm39)	A659T	possibly damaging	Het
Rfpl4b	C	A	10: 38,697,394 (GRCm39)	C69F	probably damaging	Het
Tnn	G	A	1: 159,948,106 (GRCm39)	T869I	possibly damaging	Het
Trp53i11	C	A	2: 93,029,728 (GRCm39)	L121I	possibly damaging	Het
Uimc1	A	G	13: 55,223,661 (GRCm39)	S204P	probably damaging	Het
Usp43	A	T	11: 67,804,709 (GRCm39)	N169K	probably damaging	Het
Vldlr	A	G	19: 27,217,243 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,579,030 (GRCm39)	I834M	probably damaging	Het
Zbtb21	A	G	16: 97,751,698 (GRCm39)	S690P	possibly damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
R0725:Pcm1	UTSW	8	41,740,848 (GRCm39)	missense	probably damaging	1.00
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
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'- CTCCAGCTGTTCCAGACAAC -3'
(R):5'- TCCTATTACTGTGGGGAGAGAAC -3'

Sequencing Primer
(F):5'- GACAGGCAGAAAGTCTTTCATTAAC -3'
(R):5'- ACGAGAGACTAGTTCTAAATTATCCC -3'

Posted On

2016-10-06