Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Perm1'

405352

Institutional Source

Beutler Lab

Gene Symbol

Perm1

Ensembl Gene

ENSMUSG00000078486

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

Synonyms

2310042D19Rik

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156215868-156221307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156217518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 173 (L173P)

Ref Sequence

ENSEMBL: ENSMUSP00000101197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105571] [ENSMUST00000105572] [ENSMUST00000217885] [ENSMUST00000218699]

AlphaFold

Q149B8

Predicted Effect

probably benign
Transcript: ENSMUST00000105571

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485

Domain	Start	End	E-Value	Type
PH	96	192	4.6e-4	SMART
PH	227	324	8.34e-2	SMART
low complexity region	346	359	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105572
AA Change: L173P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: L173P

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
low complexity region	145	160	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
low complexity region	544	553	N/A	INTRINSIC
low complexity region	606	616	N/A	INTRINSIC
low complexity region	790	806	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217885

Predicted Effect

probably benign
Transcript: ENSMUST00000218699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Perm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01967:Perm1	APN	4	156217661	missense	probably damaging	0.99
IGL01970:Perm1	APN	4	156217661	missense	probably damaging	0.99
IGL02143:Perm1	APN	4	156218043	missense	probably benign	0.09
IGL02644:Perm1	APN	4	156218586	missense	probably damaging	1.00
IGL02993:Perm1	APN	4	156217779	missense	probably benign	0.20
PIT4366001:Perm1	UTSW	4	156218735	missense	probably benign	0.11
R0052:Perm1	UTSW	4	156218115	missense	probably damaging	1.00
R0105:Perm1	UTSW	4	156218225	missense	probably benign	0.23
R0566:Perm1	UTSW	4	156217859	missense	probably benign	0.10
R1184:Perm1	UTSW	4	156217314	missense	probably damaging	1.00
R1208:Perm1	UTSW	4	156217002	start codon destroyed	probably null	0.92
R1244:Perm1	UTSW	4	156217883	missense	probably benign	0.09
R1724:Perm1	UTSW	4	156218072	missense	possibly damaging	0.82
R1783:Perm1	UTSW	4	156218531	nonsense	probably null
R1817:Perm1	UTSW	4	156218604	missense	possibly damaging	0.59
R1892:Perm1	UTSW	4	156217883	missense	probably benign	0.09
R1893:Perm1	UTSW	4	156217883	missense	probably benign	0.09
R2106:Perm1	UTSW	4	156218879	missense	probably damaging	1.00
R2567:Perm1	UTSW	4	156217118	missense	probably damaging	0.99
R3752:Perm1	UTSW	4	156217946	missense	probably benign	0.01
R3934:Perm1	UTSW	4	156219170	missense	probably benign
R4509:Perm1	UTSW	4	156217586	missense	probably benign	0.02
R4667:Perm1	UTSW	4	156220206	nonsense	probably null
R4706:Perm1	UTSW	4	156217074	missense	probably damaging	0.99
R4812:Perm1	UTSW	4	156218736	missense	possibly damaging	0.59
R4979:Perm1	UTSW	4	156217577	missense	probably benign	0.01
R5275:Perm1	UTSW	4	156217518	missense	probably benign
R5425:Perm1	UTSW	4	156218295	missense	probably benign	0.04
R6125:Perm1	UTSW	4	156217719	missense	probably benign	0.00
R6573:Perm1	UTSW	4	156218673	missense	probably damaging	1.00
R6721:Perm1	UTSW	4	156218319	missense	probably benign	0.00
R6986:Perm1	UTSW	4	156218519	nonsense	probably null
R7190:Perm1	UTSW	4	156219815	missense	possibly damaging	0.84
R7561:Perm1	UTSW	4	156218760	missense	probably benign
R7578:Perm1	UTSW	4	156218068	unclassified	probably benign
R7769:Perm1	UTSW	4	156218068	unclassified	probably benign
R7876:Perm1	UTSW	4	156217589	missense	probably damaging	0.98
R7899:Perm1	UTSW	4	156218068	unclassified	probably benign
R7943:Perm1	UTSW	4	156218534	missense	probably damaging	0.98
R7979:Perm1	UTSW	4	156218068	unclassified	probably benign
R8217:Perm1	UTSW	4	156218068	unclassified	probably benign
R8352:Perm1	UTSW	4	156218068	unclassified	probably benign
R8680:Perm1	UTSW	4	156217634	missense	probably benign
R8719:Perm1	UTSW	4	156218068	unclassified	probably benign
R8753:Perm1	UTSW	4	156218068	unclassified	probably benign
R8847:Perm1	UTSW	4	156217611	missense	probably benign
R9170:Perm1	UTSW	4	156218068	unclassified	probably benign
R9231:Perm1	UTSW	4	156217777	missense	probably damaging	0.98
R9255:Perm1	UTSW	4	156218068	unclassified	probably benign
R9259:Perm1	UTSW	4	156219150	missense	probably benign	0.33
R9410:Perm1	UTSW	4	156218068	unclassified	probably benign
R9465:Perm1	UTSW	4	156218068	unclassified	probably benign
R9492:Perm1	UTSW	4	156218068	unclassified	probably benign
R9501:Perm1	UTSW	4	156217720	missense	probably benign	0.32
R9518:Perm1	UTSW	4	156218068	unclassified	probably benign
R9548:Perm1	UTSW	4	156217833	missense	probably benign	0.02
R9569:Perm1	UTSW	4	156218582	missense	probably benign	0.13
R9576:Perm1	UTSW	4	156218068	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCAGCTTAGACAGTGTCTG -3'
(R):5'- TAGAAAGATCCAAGCCTGACTC -3'

Sequencing Primer
(F):5'- ACAGTGTCTGTCCTGGCCAG -3'
(R):5'- CCATCTGTTCAGGACTCGTGGAG -3'

Posted On

2016-07-22