Mutagenetix > Incidental Mutation

Incidental Mutation 'R7478:Pcm1'

579610

Institutional Source

Beutler Lab

Gene Symbol

Pcm1

Ensembl Gene

ENSMUSG00000031592

Gene Name

pericentriolar material 1

Synonyms

9430077F19Rik, C030044G17Rik, 2600002H09Rik

MMRRC Submission

045552-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41692789-41785381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41714410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 266 (E266G)

Ref Sequence

ENSEMBL: ENSMUSP00000147887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045218] [ENSMUST00000210862] [ENSMUST00000211247]

AlphaFold

Q9R0L6

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000210862

Predicted Effect

probably benign
Transcript: ENSMUST00000211247
AA Change: E266G

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.1278

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	G	6: 29,903,266 (GRCm39)	R516G	probably damaging	Het
Ak9	T	C	10: 41,265,087 (GRCm39)	F948S		Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Ankrd34a	T	C	3: 96,505,816 (GRCm39)	L340P	possibly damaging	Het
Arid1a	T	A	4: 133,412,482 (GRCm39)	R1186W	unknown	Het
Arpc4	T	A	6: 113,361,092 (GRCm39)	M95K	possibly damaging	Het
Atrnl1	A	G	19: 57,684,744 (GRCm39)	E790G	possibly damaging	Het
C130074G19Rik	T	C	1: 184,606,624 (GRCm39)	N103D	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap2	T	C	1: 136,198,678 (GRCm39)	T782A		Het
Catsperd	A	G	17: 56,971,055 (GRCm39)	I706M	probably benign	Het
Cbx2	T	C	11: 118,919,941 (GRCm39)	V502A	probably damaging	Het
Cd72	T	G	4: 43,454,515 (GRCm39)	I5L	possibly damaging	Het
Celsr3	A	G	9: 108,720,777 (GRCm39)	Y2609C	probably benign	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Efcc1	T	C	6: 87,707,972 (GRCm39)	V33A	probably damaging	Het
Eif4enif1	T	A	11: 3,177,709 (GRCm39)	L367*	probably null	Het
Eml2	T	A	7: 18,940,066 (GRCm39)	L627*	probably null	Het
F13b	A	G	1: 139,435,433 (GRCm39)	T193A	probably benign	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Ifna7	T	A	4: 88,734,913 (GRCm39)	I150N	probably damaging	Het
Man2b2	G	A	5: 36,967,657 (GRCm39)	H904Y	probably damaging	Het
Midn	A	G	10: 79,991,156 (GRCm39)	T389A	possibly damaging	Het
Myo19	A	T	11: 84,776,626 (GRCm39)	H94L	probably benign	Het
Naglu	T	C	11: 100,962,725 (GRCm39)	Y177H	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nxn	A	T	11: 76,152,378 (GRCm39)	V372E	probably damaging	Het
Obscn	G	A	11: 58,984,242 (GRCm39)	R1738C	probably damaging	Het
Pkd1l1	T	C	11: 8,879,441 (GRCm39)	N920S		Het
Pkd1l3	C	A	8: 110,359,947 (GRCm39)	T944K	probably damaging	Het
Prl7d1	C	A	13: 27,894,168 (GRCm39)	E133*	probably null	Het
Qser1	G	A	2: 104,619,859 (GRCm39)	L228F	probably damaging	Het
Rasa3	A	G	8: 13,664,605 (GRCm39)	I69T	possibly damaging	Het
Rb1	A	T	14: 73,506,577 (GRCm39)	S391T	probably damaging	Het
Rnf220	T	C	4: 117,153,333 (GRCm39)	Y301C	possibly damaging	Het
Sertm1	A	G	3: 54,806,749 (GRCm39)	V92A	possibly damaging	Het
Slfn5	A	G	11: 82,851,442 (GRCm39)	K580E	probably damaging	Het
Stard4	T	C	18: 33,338,377 (GRCm39)	Y111C	unknown	Het
Tagap	C	A	17: 8,152,422 (GRCm39)	Q536K	possibly damaging	Het
Tank	T	C	2: 61,480,513 (GRCm39)	C351R	probably damaging	Het
Tarbp2	A	T	15: 102,430,169 (GRCm39)	M144L	probably benign	Het
Tdrd9	T	C	12: 111,951,476 (GRCm39)	Y89H	probably damaging	Het
Tecpr2	C	A	12: 110,934,873 (GRCm39)	T1373K	probably benign	Het
Tle1	G	A	4: 72,055,349 (GRCm39)	P434L	probably damaging	Het
Tmed5	A	G	5: 108,272,495 (GRCm39)	V201A	probably benign	Het
Ust	A	G	10: 8,266,650 (GRCm39)		probably null	Het
Vmn2r94	T	C	17: 18,477,767 (GRCm39)	T215A	probably benign	Het
Zfp273	A	T	13: 67,973,251 (GRCm39)	Q126H	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- TGAGCGTCTTACTCATCTAATAGAGC -3'
(R):5'- TCATCTTGAAAACTGGAGGAAAACC -3'

Sequencing Primer
(F):5'- AGCATCTTAAAGAGCAAGAAAAGTC -3'
(R):5'- AACCTTAAATCTTCATTTCCAGCAC -3'

Posted On

2019-10-07