Mutagenetix > Incidental Mutation

Incidental Mutation 'R9412:Pcm1'

711853

Institutional Source

Beutler Lab

Gene Symbol

Pcm1

Ensembl Gene

ENSMUSG00000031592

Gene Name

pericentriolar material 1

Synonyms

9430077F19Rik, C030044G17Rik, 2600002H09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9412 (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 G at 41740788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 972 (N972K)

Ref Sequence

ENSEMBL: ENSMUSP00000039709 (fasta)

Gene Model

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

AlphaFold

Q9R0L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045218
AA Change: N972K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039709
Gene: ENSMUSG00000031592
AA Change: N972K

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: N1011K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	A	8: 13,604,695 (GRCm39)	T203S	possibly damaging	Het
2700049A03Rik	G	A	12: 71,235,457 (GRCm39)	E1136K	possibly damaging	Het
Abca6	C	A	11: 110,103,059 (GRCm39)	R844L	probably damaging	Het
Abcb9	C	T	5: 124,221,753 (GRCm39)	R207Q	probably benign	Het
Abcd4	T	C	12: 84,655,581 (GRCm39)	R343G	probably damaging	Het
Arhgap45	T	A	10: 79,855,564 (GRCm39)	M1K	probably null	Het
Art3	A	G	5: 92,541,013 (GRCm39)	Y252C	probably damaging	Het
Ascc3	T	C	10: 50,525,230 (GRCm39)	M475T	probably benign	Het
Atxn2	C	T	5: 121,940,201 (GRCm39)	P992L	possibly damaging	Het
Dclk3	G	A	9: 111,311,819 (GRCm39)		probably null	Het
Ddx21	T	C	10: 62,429,881 (GRCm39)	T288A	possibly damaging	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fmnl2	G	T	2: 53,007,016 (GRCm39)	R776L	unknown	Het
Fndc1	T	A	17: 7,991,198 (GRCm39)	T833S	unknown	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Ints2	T	C	11: 86,117,589 (GRCm39)	Y711C	probably damaging	Het
Irx5	A	G	8: 93,086,351 (GRCm39)	K145E	probably damaging	Het
Kdm5a	A	G	6: 120,365,991 (GRCm39)	Y377C	probably damaging	Het
Lrp1	T	A	10: 127,409,287 (GRCm39)	T1611S	probably damaging	Het
Lrrc28	T	A	7: 67,181,512 (GRCm39)	E241V	probably damaging	Het
Med23	T	C	10: 24,778,019 (GRCm39)	F789S	probably damaging	Het
Ncapd3	C	T	9: 26,967,451 (GRCm39)	Q596*	probably null	Het
Nrde2	C	A	12: 100,096,681 (GRCm39)	E1040*	probably null	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,755,772 (GRCm39)	T222A	probably damaging	Het
Ptchd3	A	T	11: 121,732,779 (GRCm39)	K556N	possibly damaging	Het
Relch	A	G	1: 105,662,288 (GRCm39)	T936A	probably benign	Het
Scap	T	C	9: 110,207,673 (GRCm39)	C461R	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,627 (GRCm39)	L72*	probably null	Het
Serpinb6c	C	A	13: 34,081,371 (GRCm39)	A93S	probably benign	Het
Serpinb9c	C	A	13: 33,334,231 (GRCm39)	L298F	probably damaging	Het
Slf2	A	T	19: 44,930,460 (GRCm39)	E512D	probably benign	Het
Snapc3	C	T	4: 83,354,570 (GRCm39)	H194Y	probably benign	Het
Suox	T	A	10: 128,507,758 (GRCm39)	D90V	possibly damaging	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCA	3: 54,635,069 (GRCm39)		probably benign	Het
Tert	C	T	13: 73,797,046 (GRCm39)	R1095W	probably benign	Het
Tut4	A	T	4: 108,414,561 (GRCm39)	H46L		Het
Unc13c	T	C	9: 73,839,772 (GRCm39)	I360V	probably benign	Het
Uqcc1	A	G	2: 155,693,329 (GRCm39)	C235R	probably benign	Het
Vmn2r9	T	A	5: 108,991,484 (GRCm39)	I626F	probably damaging	Het
Vmn2r90	T	G	17: 17,954,213 (GRCm39)	C792W	probably damaging	Het
Zfp57	C	T	17: 37,320,814 (GRCm39)	P223S	probably benign	Het
Zfp787	T	C	7: 6,135,946 (GRCm39)	T102A	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
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
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'- GGGCTGAAAATGCTATTTCCCC -3'
(R):5'- TGTTAGAAGAGTCTGCAGCAAAC -3'

Sequencing Primer
(F):5'- GCTGAAAATGCTATTTCCCCCTCTTC -3'
(R):5'- TCTGCAGCAAACAAGATAAAGTCTG -3'

Posted On

2022-05-16