Mutagenetix > Incidental Mutation

Incidental Mutation 'R8489:Pcm1'

657893

Institutional Source

Beutler Lab

Gene Symbol

Pcm1

Ensembl Gene

ENSMUSG00000031592

Gene Name

pericentriolar material 1

Synonyms

9430077F19Rik, C030044G17Rik, 2600002H09Rik

MMRRC Submission

067932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41692789-41785381 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41766437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1542 (C1542S)

Ref Sequence

ENSEMBL: ENSMUSP00000039709 (fasta)

Gene Model

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

AlphaFold

Q9R0L6

Predicted Effect

probably benign
Transcript: ENSMUST00000045218
AA Change: C1542S

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: C1542S

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: ENSMUST00000211247
AA Change: C1581S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI661453	C	A	17: 47,777,254 (GRCm39)		probably benign	Het
Apc2	T	G	10: 80,143,298 (GRCm39)	L466R	probably damaging	Het
Baz1b	C	A	5: 135,245,709 (GRCm39)	P386H	probably damaging	Het
Ccdc149	T	C	5: 52,533,999 (GRCm39)	D389G	probably benign	Het
Cit	T	A	5: 116,083,962 (GRCm39)		probably null	Het
Cmas	C	A	6: 142,702,596 (GRCm39)	A33E	probably benign	Het
Dcaf7	A	G	11: 105,942,743 (GRCm39)	N230S	probably damaging	Het
Dcun1d5	C	A	9: 7,206,837 (GRCm39)		probably benign	Het
Dennd5b	T	A	6: 148,986,389 (GRCm39)	D58V	probably benign	Het
Dmrt2	C	A	19: 25,655,831 (GRCm39)	Q477K	probably damaging	Het
Eva1c	A	G	16: 90,672,999 (GRCm39)	N90S	probably damaging	Het
Fcgbp	A	T	7: 27,804,435 (GRCm39)	I1848F	possibly damaging	Het
Fgfr2	T	G	7: 129,769,534 (GRCm39)	M522L	probably benign	Het
Fshr	C	A	17: 89,293,795 (GRCm39)	K294N	probably benign	Het
Gja10	T	C	4: 32,601,866 (GRCm39)	I173V	probably benign	Het
Gmnn	A	G	13: 24,941,614 (GRCm39)	S32P	probably damaging	Het
Hdac9	T	C	12: 34,487,180 (GRCm39)	N95D	probably damaging	Het
Ipo13	T	C	4: 117,758,219 (GRCm39)	T715A	probably damaging	Het
Klrc2	A	G	6: 129,635,787 (GRCm39)	S97P	probably benign	Het
Lrrn4	G	A	2: 132,721,364 (GRCm39)	S151L	probably benign	Het
Man2a1	G	T	17: 64,908,765 (GRCm39)	S12I	possibly damaging	Het
Mplkipl1	T	C	19: 61,164,085 (GRCm39)	T117A	probably damaging	Het
Mrgprb8	T	A	7: 48,038,701 (GRCm39)	V124E	possibly damaging	Het
Myo5c	T	C	9: 75,180,128 (GRCm39)	W690R	probably damaging	Het
Ncapd2	T	C	6: 125,150,745 (GRCm39)	K817E	probably damaging	Het
Or51k2	T	C	7: 103,596,328 (GRCm39)	I185T	probably damaging	Het
Or5h27	A	G	16: 59,006,400 (GRCm39)	*149Q	probably null	Het
Or5p60	T	A	7: 107,724,372 (GRCm39)	I33F	probably benign	Het
Or8b50	T	C	9: 38,518,232 (GRCm39)	M157T	probably benign	Het
Pcdh18	A	T	3: 49,709,038 (GRCm39)	I759N	probably damaging	Het
Pcdhac2	A	T	18: 37,278,207 (GRCm39)	N396Y	probably damaging	Het
Pcsk1	T	A	13: 75,274,121 (GRCm39)	V450E	probably damaging	Het
Pld2	A	G	11: 70,445,121 (GRCm39)	K574E	probably damaging	Het
Pramel52-ps	T	C	5: 94,531,551 (GRCm39)	L145P	probably damaging	Het
Psmc1	C	T	12: 100,089,356 (GRCm39)	R410C	probably benign	Het
Rad51b	C	T	12: 79,374,024 (GRCm39)	S201L	probably benign	Het
Rgs3	T	A	4: 62,544,733 (GRCm39)	L200Q	probably damaging	Het
Rims2	A	G	15: 39,479,846 (GRCm39)	M1293V	probably damaging	Het
Scin	C	T	12: 40,131,019 (GRCm39)	G298D	probably damaging	Het
Scn8a	C	A	15: 100,867,014 (GRCm39)	F123L	probably damaging	Het
Snapc3	G	A	4: 83,369,531 (GRCm39)	C353Y	probably damaging	Het
Sned1	C	A	1: 93,210,978 (GRCm39)	S231*	probably null	Het
Tex15	A	G	8: 34,067,574 (GRCm39)	T2335A	probably benign	Het
Tigd4	G	A	3: 84,502,526 (GRCm39)	G481D	probably benign	Het
Trank1	T	G	9: 111,219,343 (GRCm39)	F2027V	probably benign	Het
Ubr1	C	T	2: 120,711,548 (GRCm39)	A1449T	probably benign	Het
Ulk1	G	T	5: 110,947,002 (GRCm39)	Y89*	probably null	Het
Usp54	A	G	14: 20,611,604 (GRCm39)	F1071L	probably benign	Het
Utrn	C	T	10: 12,587,190 (GRCm39)	E949K	probably benign	Het
Vmn2r65	T	A	7: 84,589,964 (GRCm39)	T651S	possibly damaging	Het
Wdfy1	A	G	1: 79,739,368 (GRCm39)	L17P	probably damaging	Het
Zfp672	G	A	11: 58,220,681 (GRCm39)		probably benign	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
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
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'- AAAAGCTAACTTTCTTCCCTTGTGC -3'
(R):5'- GCCGGTATATATTTCAAACTGGTTCTG -3'

Sequencing Primer
(F):5'- GGTAACACTGTGATTCACTTG -3'
(R):5'- ACTGGTTCTGAATTTGCAATGTAGTC -3'

Posted On

2021-01-18