Mutagenetix > Incidental Mutation

Incidental Mutation 'R4706:Perm1'

355211

Institutional Source

Beutler Lab

Gene Symbol

Perm1

Ensembl Gene

ENSMUSG00000078486

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

Synonyms

2310042D19Rik

MMRRC Submission

041954-MU

Accession Numbers

Essential gene?

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

Stock #

R4706 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

156300325-156305764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 156301531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 25 (C25F)

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 damaging
Transcript: ENSMUST00000105572
AA Change: C25F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: C25F

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,064,988 (GRCm39)	N548K	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Afap1l2	A	T	19: 56,925,672 (GRCm39)	I152N	possibly damaging	Het
Ankrd52	T	G	10: 128,214,030 (GRCm39)	M62R	probably benign	Het
Aox4	A	T	1: 58,305,946 (GRCm39)	T1317S	probably damaging	Het
Apol7c	T	A	15: 77,409,923 (GRCm39)	Q341L	probably benign	Het
Arhgef4	C	T	1: 34,771,298 (GRCm39)	R1202W	probably benign	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
Cecr2	A	T	6: 120,732,539 (GRCm39)	E477V	possibly damaging	Het
Chmp7	A	T	14: 69,956,010 (GRCm39)	D419E	probably benign	Het
Cmip	A	C	8: 118,103,893 (GRCm39)	K127T	probably damaging	Het
Csmd2	T	C	4: 128,438,544 (GRCm39)	V3041A	probably benign	Het
Cyp1b1	T	A	17: 80,020,771 (GRCm39)	I324F	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Ddx10	T	C	9: 53,145,231 (GRCm39)	T249A	probably damaging	Het
Dscaml1	T	C	9: 45,361,878 (GRCm39)	Y213H	probably damaging	Het
Eef1a2	T	C	2: 180,797,150 (GRCm39)	D17G	probably damaging	Het
Fbn1	T	C	2: 125,212,069 (GRCm39)	I848V	probably benign	Het
Fbxw18	A	G	9: 109,519,585 (GRCm39)	I307T	probably benign	Het
Fxr1	T	A	3: 34,118,278 (GRCm39)	D500E	probably damaging	Het
Gars1	G	A	6: 55,046,363 (GRCm39)	G492D	probably damaging	Het
Gria2	A	T	3: 80,648,297 (GRCm39)	D146E	probably benign	Het
Gstz1	A	G	12: 87,205,894 (GRCm39)	N37S	probably benign	Het
Hnrnph3	C	A	10: 62,853,059 (GRCm39)	G194V	probably damaging	Het
Il2rb	T	C	15: 78,370,600 (GRCm39)	R172G	possibly damaging	Het
Itga11	T	A	9: 62,662,578 (GRCm39)	V517D	possibly damaging	Het
Kcnq4	A	G	4: 120,561,683 (GRCm39)	I462T	probably benign	Het
Klf6	T	A	13: 5,911,639 (GRCm39)	M1K	probably null	Het
Lrp8	G	A	4: 107,718,470 (GRCm39)	A817T	probably benign	Het
Map3k5	T	A	10: 19,934,684 (GRCm39)	Y509N	probably damaging	Het
Mdc1	C	T	17: 36,163,671 (GRCm39)	S1073F	probably damaging	Het
Mme	A	G	3: 63,256,133 (GRCm39)	D531G	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	A	T	4: 106,548,821 (GRCm39)	V1014E	possibly damaging	Het
Msantd5l	A	T	11: 51,144,668 (GRCm39)	F204L	possibly damaging	Het
Myo1d	C	T	11: 80,557,467 (GRCm39)	C491Y	probably damaging	Het
Ncoa3	C	A	2: 165,889,799 (GRCm39)	D61E	probably damaging	Het
Nmrk1	A	G	19: 18,622,491 (GRCm39)	E190G	probably benign	Het
Nr4a2	G	T	2: 57,002,225 (GRCm39)	P13H	probably damaging	Het
Nup205	T	C	6: 35,178,943 (GRCm39)	L671P	probably damaging	Het
Omt2a	T	C	9: 78,220,352 (GRCm39)	I16V	probably benign	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or51f2	T	A	7: 102,526,640 (GRCm39)	H104Q	probably damaging	Het
Or6n1	A	G	1: 173,917,268 (GRCm39)	I221V	probably damaging	Het
Or8k24	G	A	2: 86,216,732 (GRCm39)	T10I	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Osbpl9	A	T	4: 109,013,884 (GRCm39)	I70N	probably damaging	Het
Pclo	A	T	5: 14,764,221 (GRCm39)	L4231F	unknown	Het
Per1	C	T	11: 68,991,444 (GRCm39)		probably benign	Het
Phf3	A	G	1: 30,844,687 (GRCm39)	V1424A	probably damaging	Het
Plxnb1	T	G	9: 108,941,096 (GRCm39)	L1625R	probably damaging	Het
Ppid	G	A	3: 79,506,359 (GRCm39)	V216I	probably benign	Het
Ppp4r3a	C	T	12: 101,008,175 (GRCm39)	G754D	probably damaging	Het
Prex2	G	T	1: 11,270,212 (GRCm39)	W1299L	probably damaging	Het
Ptprn2	C	A	12: 116,835,714 (GRCm39)	Q350K	probably benign	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rbm8a	G	A	3: 96,537,368 (GRCm39)		probably benign	Het
Relch	T	A	1: 105,620,004 (GRCm39)	M353K	probably benign	Het
Ros1	A	G	10: 51,977,990 (GRCm39)	S1419P	possibly damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Rtel1	T	C	2: 180,965,539 (GRCm39)		probably null	Het
Sacs	A	G	14: 61,441,722 (GRCm39)	E1256G	probably damaging	Het
Sec23a	A	G	12: 59,029,372 (GRCm39)	V467A	probably damaging	Het
Sec24d	T	A	3: 123,149,427 (GRCm39)	N811K	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Shisa5	T	A	9: 108,885,128 (GRCm39)	C133S	probably null	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a31	G	A	3: 40,670,975 (GRCm39)	A89T	probably damaging	Het
Slc6a1	G	T	6: 114,284,713 (GRCm39)	R257L	possibly damaging	Het
Sntb1	C	T	15: 55,612,670 (GRCm39)	V303M	probably benign	Het
Snx20	A	G	8: 89,354,439 (GRCm39)	V97A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,136 (GRCm39)	N285K	probably benign	Het
Vmn2r98	T	G	17: 19,290,007 (GRCm39)	S514R	probably damaging	Het
Zfp28	A	T	7: 6,392,793 (GRCm39)	E156D	probably damaging	Het
Zfp39	A	G	11: 58,793,633 (GRCm39)	V35A	probably benign	Het
Zfp536	A	C	7: 37,268,891 (GRCm39)	I175S	probably damaging	Het
Zic5	A	T	14: 122,696,969 (GRCm39)	S549T	unknown	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
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
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'- TTCTTCCAGATAGAAATGGACTGC -3'
(R):5'- TCACACTGAGACCTGCTGAC -3'

Sequencing Primer
(F):5'- CAGGTGCTACAAGGTCAGGC -3'
(R):5'- CTGACCAGCTGCTGAGC -3'

Posted On

2015-10-21