Mutagenetix > Incidental Mutation

Incidental Mutation 'R1208:Perm1'

100516

Institutional Source

Beutler Lab

Gene Symbol

Perm1

Ensembl Gene

ENSMUSG00000078486

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

Synonyms

2310042D19Rik

MMRRC Submission

039277-MU

Accession Numbers

Essential gene?

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

Stock #

R1208 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

156300325-156305764 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 156301459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

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 null
Transcript: ENSMUST00000105572
AA Change: M1T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: M1T

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

Coding Region Coverage

1x: 99.3%
3x: 97.8%
10x: 91.7%
20x: 74.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	C	T	3: 59,772,715 (GRCm39)	P73L	probably benign	Het
Atp13a3	A	T	16: 30,173,065 (GRCm39)	C271S	probably benign	Het
Ccl25	T	A	8: 4,407,631 (GRCm39)	S199T	possibly damaging	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cep104	A	T	4: 154,069,836 (GRCm39)	D270V	probably damaging	Het
Dnah5	T	A	15: 28,327,877 (GRCm39)	Y2084N	probably damaging	Het
Eftud2	A	G	11: 102,755,592 (GRCm39)	V214A	probably benign	Het
Epb41l4b	C	T	4: 57,077,252 (GRCm39)		probably null	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gys2	A	G	6: 142,396,193 (GRCm39)		probably null	Het
Lig4	T	C	8: 10,021,062 (GRCm39)	E906G	probably damaging	Het
Mast3	G	A	8: 71,240,916 (GRCm39)		probably null	Het
Mta2	G	A	19: 8,928,381 (GRCm39)	R560H	probably damaging	Het
Myom2	T	C	8: 15,134,631 (GRCm39)	L478P	probably damaging	Het
Neb	A	T	2: 52,193,912 (GRCm39)	L673*	probably null	Het
Niban3	A	T	8: 72,053,119 (GRCm39)	T125S	probably damaging	Het
Or4c35	G	A	2: 89,808,836 (GRCm39)	C238Y	probably damaging	Het
Pdpk1	C	A	17: 24,312,583 (GRCm39)		probably null	Het
Pphln1	T	C	15: 93,357,610 (GRCm39)	W162R	probably damaging	Het
Ppp1r13b	A	G	12: 111,811,339 (GRCm39)	V183A	probably damaging	Het
Recql5	T	C	11: 115,783,982 (GRCm39)	K951E	probably damaging	Het
Slc25a25	T	C	2: 32,307,437 (GRCm39)	E309G	probably benign	Het
Sycp2	A	T	2: 177,998,421 (GRCm39)	I1033N	possibly damaging	Het
Tbpl2	A	T	2: 23,984,783 (GRCm39)	N120K	probably benign	Het
Unc5b	A	T	10: 60,602,771 (GRCm39)	L876Q	probably damaging	Het
Usp9y	T	C	Y: 1,356,282 (GRCm39)	T1140A	probably benign	Het
Vmn1r40	A	G	6: 89,691,326 (GRCm39)	I48V	probably benign	Het
Zbbx	T	C	3: 74,945,299 (GRCm39)	I708V	possibly damaging	Het
Zfp318	AGAAGA	AGAAGAGGAAGA	17: 46,723,446 (GRCm39)		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
R0566:Perm1	UTSW	4	156,302,316 (GRCm39)	missense	probably benign	0.10
R1184:Perm1	UTSW	4	156,301,771 (GRCm39)	missense	probably damaging	1.00
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'- GCAAAGTCTGTCCCGTGGTTCTTC -3'
(R):5'- TGCAAAAGCCTCTGCATCTTGTCTC -3'

Sequencing Primer
(F):5'- TCTTCCAGATAGAAATGGACTGCC -3'
(R):5'- CACTGTCTAAGCTGGGGAAC -3'

Posted On

2014-01-15