Mutagenetix > Incidental Mutation

Incidental Mutation 'R0566:Perm1'

46176

Institutional Source

Beutler Lab

Gene Symbol

Perm1

Ensembl Gene

ENSMUSG00000078486

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

Synonyms

2310042D19Rik

MMRRC Submission

038757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0566 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156300325-156305764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156302316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 287 (M287L)

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: M287L

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: M287L

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: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

96% (24/25)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,266 (GRCm39)	L254P	possibly damaging	Het
Adamts6	C	A	13: 104,581,435 (GRCm39)	A850E	probably benign	Het
Ccdc112	A	C	18: 46,423,877 (GRCm39)	V287G	probably damaging	Het
Ctbp2	A	G	7: 132,592,876 (GRCm39)	V811A	probably damaging	Het
Dchs1	A	G	7: 105,408,402 (GRCm39)	V1810A	probably benign	Het
Dhx15	T	G	5: 52,328,767 (GRCm39)	K287T	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,221,840 (GRCm39)		probably benign	Het
Gnpda2	A	G	5: 69,742,304 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,355,583 (GRCm39)	F2S	possibly damaging	Het
Nlrp1a	A	G	11: 71,013,768 (GRCm39)	L494P	probably benign	Het
Or2r2	T	A	6: 42,464,025 (GRCm39)	Y34F	probably damaging	Het
Paqr8	C	A	1: 21,005,687 (GRCm39)	H280Q	possibly damaging	Het
Piwil2	A	G	14: 70,647,843 (GRCm39)	V323A	probably damaging	Het
Pon3	A	G	6: 5,232,408 (GRCm39)	V131A	possibly damaging	Het
Prima1	C	A	12: 103,163,573 (GRCm39)	A133S	probably benign	Het
Prl7c1	A	G	13: 27,962,961 (GRCm39)	L14P	probably damaging	Het
Prr23a2	T	A	9: 98,739,041 (GRCm39)	L133H	possibly damaging	Het
Samd3	T	C	10: 26,120,396 (GRCm39)	V157A	possibly damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Tep1	A	T	14: 51,082,871 (GRCm39)		probably null	Het
Tmem208	T	C	8: 106,061,475 (GRCm39)	V167A	probably benign	Het
Tnrc6a	A	T	7: 122,770,136 (GRCm39)	N642I	probably benign	Het
Vps26a	A	G	10: 62,316,325 (GRCm39)		probably benign	Het
Zfp112	T	C	7: 23,825,102 (GRCm39)	S357P	probably benign	Het

Other mutations in Perm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01967:Perm1	APN	4	156,302,118 (GRCm39)	missense	probably damaging	0.99
IGL01970:Perm1	APN	4	156,302,118 (GRCm39)	missense	probably damaging	0.99
IGL02143:Perm1	APN	4	156,302,500 (GRCm39)	missense	probably benign	0.09
IGL02644:Perm1	APN	4	156,303,043 (GRCm39)	missense	probably damaging	1.00
IGL02993:Perm1	APN	4	156,302,236 (GRCm39)	missense	probably benign	0.20
PIT4366001:Perm1	UTSW	4	156,303,192 (GRCm39)	missense	probably benign	0.11
R0052:Perm1	UTSW	4	156,302,572 (GRCm39)	missense	probably damaging	1.00
R0105:Perm1	UTSW	4	156,302,682 (GRCm39)	missense	probably benign	0.23
R1184:Perm1	UTSW	4	156,301,771 (GRCm39)	missense	probably damaging	1.00
R1208:Perm1	UTSW	4	156,301,459 (GRCm39)	start codon destroyed	probably null	0.92
R1244:Perm1	UTSW	4	156,302,340 (GRCm39)	missense	probably benign	0.09
R1724:Perm1	UTSW	4	156,302,529 (GRCm39)	missense	possibly damaging	0.82
R1783:Perm1	UTSW	4	156,302,988 (GRCm39)	nonsense	probably null
R1817:Perm1	UTSW	4	156,303,061 (GRCm39)	missense	possibly damaging	0.59
R1892:Perm1	UTSW	4	156,302,340 (GRCm39)	missense	probably benign	0.09
R1893:Perm1	UTSW	4	156,302,340 (GRCm39)	missense	probably benign	0.09
R2106:Perm1	UTSW	4	156,303,336 (GRCm39)	missense	probably damaging	1.00
R2567:Perm1	UTSW	4	156,301,575 (GRCm39)	missense	probably damaging	0.99
R3752:Perm1	UTSW	4	156,302,403 (GRCm39)	missense	probably benign	0.01
R3934:Perm1	UTSW	4	156,303,627 (GRCm39)	missense	probably benign
R4509:Perm1	UTSW	4	156,302,043 (GRCm39)	missense	probably benign	0.02
R4667:Perm1	UTSW	4	156,304,663 (GRCm39)	nonsense	probably null
R4706:Perm1	UTSW	4	156,301,531 (GRCm39)	missense	probably damaging	0.99
R4812:Perm1	UTSW	4	156,303,193 (GRCm39)	missense	possibly damaging	0.59
R4979:Perm1	UTSW	4	156,302,034 (GRCm39)	missense	probably benign	0.01
R5275:Perm1	UTSW	4	156,301,975 (GRCm39)	missense	probably benign
R5295:Perm1	UTSW	4	156,301,975 (GRCm39)	missense	probably benign
R5425:Perm1	UTSW	4	156,302,752 (GRCm39)	missense	probably benign	0.04
R6125:Perm1	UTSW	4	156,302,176 (GRCm39)	missense	probably benign	0.00
R6573:Perm1	UTSW	4	156,303,130 (GRCm39)	missense	probably damaging	1.00
R6721:Perm1	UTSW	4	156,302,776 (GRCm39)	missense	probably benign	0.00
R6986:Perm1	UTSW	4	156,302,976 (GRCm39)	nonsense	probably null
R7190:Perm1	UTSW	4	156,304,272 (GRCm39)	missense	possibly damaging	0.84
R7561:Perm1	UTSW	4	156,303,217 (GRCm39)	missense	probably benign
R7578:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R7769:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R7876:Perm1	UTSW	4	156,302,046 (GRCm39)	missense	probably damaging	0.98
R7899:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R7943:Perm1	UTSW	4	156,302,991 (GRCm39)	missense	probably damaging	0.98
R7979:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R8217:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R8352:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R8680:Perm1	UTSW	4	156,302,091 (GRCm39)	missense	probably benign
R8719:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R8753:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R8847:Perm1	UTSW	4	156,302,068 (GRCm39)	missense	probably benign
R9170:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R9231:Perm1	UTSW	4	156,302,234 (GRCm39)	missense	probably damaging	0.98
R9255:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R9259:Perm1	UTSW	4	156,303,607 (GRCm39)	missense	probably benign	0.33
R9410:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R9465:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R9492:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R9501:Perm1	UTSW	4	156,302,177 (GRCm39)	missense	probably benign	0.32
R9518:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign
R9548:Perm1	UTSW	4	156,302,290 (GRCm39)	missense	probably benign	0.02
R9569:Perm1	UTSW	4	156,303,039 (GRCm39)	missense	probably benign	0.13
R9576:Perm1	UTSW	4	156,302,525 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGATGGCAAAAGCCCAGCAG -3'
(R):5'- GTGTAGACAAAGCCATGTCAGGCTC -3'

Sequencing Primer
(F):5'- GGATAAGCCACAGCCTGACTC -3'
(R):5'- CCATGTCAGGCTCAGAGG -3'

Posted On

2013-06-11