Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Perm1'

721827

Institutional Source

Beutler Lab

Gene Symbol

Perm1

Ensembl Gene

ENSMUSG00000078486

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

Synonyms

2310042D19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156215868-156221307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156218582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 528 (T528A)

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: T528A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: T528A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	G	C	4: 42,971,740	V358L	probably benign	Het
4932438A13Rik	T	C	3: 37,012,621	M211T		Het
Abi2	T	A	1: 60,464,604	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,179,637	V690A	possibly damaging	Het
Apba2	T	C	7: 64,743,390	M553T	possibly damaging	Het
Apeh	C	T	9: 108,094,410	V13M	unknown	Het
Apol11b	C	T	15: 77,640,571	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,717,733	T177I	probably damaging	Het
Bub1b	T	C	2: 118,638,403	I883T	probably damaging	Het
C9	T	C	15: 6,459,581	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,565	I64N	probably benign	Het
Cd180	A	T	13: 102,705,978	I511F	possibly damaging	Het
Cic	T	C	7: 25,272,695	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,807,314		probably null	Het
D5Ertd579e	T	C	5: 36,602,635	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,480,431	E422D	probably benign	Het
Depdc5	A	T	5: 32,867,977	D21V	probably damaging	Het
Dis3l	A	G	9: 64,329,547	F40S	unknown	Het
Duox1	T	C	2: 122,318,490	V82A	probably benign	Het
Dus2	T	C	8: 106,044,875	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,420,835	S326N	probably benign	Het
Fat3	A	C	9: 15,919,199	L153R		Het
Gpx8	C	T	13: 113,045,591	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 88,694,520	D268G	probably benign	Het
Hc	T	C	2: 35,036,347	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,568,952	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,486,643	D77A		Het
Igfbp1	A	G	11: 7,197,881		probably benign	Het
Kdm3a	T	C	6: 71,607,450	D559G	probably benign	Het
Kif2a	A	G	13: 106,968,738	I565T	probably benign	Het
Krt2	T	C	15: 101,816,489	T229A	probably damaging	Het
Lcmt2	G	A	2: 121,140,041	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,387,254	M241T	probably benign	Het
Mup15	T	C	4: 61,439,638		probably benign	Het
Myo9b	T	C	8: 71,358,985	V1912A	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Naip5	T	C	13: 100,223,313	T472A	probably benign	Het
Net1	A	G	13: 3,888,518	F123S	probably benign	Het
Olfr183	A	G	16: 58,999,865	Y60C	probably damaging	Het
Olfr335-ps	T	C	2: 36,301,934	Y132H	probably damaging	Het
Olfr666	C	T	7: 104,893,318	M103I	possibly damaging	Het
Pcdhb13	T	C	18: 37,443,100	F177S	probably damaging	Het
Pclo	T	C	5: 14,857,051		probably null	Het
Pik3c2a	C	T	7: 116,358,704	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,094,992	Q146*	probably null	Het
Psd	A	T	19: 46,320,278	C639S	possibly damaging	Het
Rffl	T	A	11: 82,812,438	T220S	probably benign	Het
Scn2a	A	G	2: 65,730,278	D1284G	probably damaging	Het
Scube1	T	C	15: 83,629,404	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,076,324	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,671,594	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,685,911	T343A	probably benign	Het
Slc7a4	A	G	16: 17,575,398	V179A		Het
Sox14	T	G	9: 99,875,509	D49A		Het
Timm22	A	G	11: 76,407,370	S56G	probably benign	Het
Tmub2	G	A	11: 102,288,327	W322*	probably null	Het
Tsc22d4	A	G	5: 137,758,166	T8A	probably benign	Het
Ttn	T	C	2: 76,709,308	I34445V	probably benign	Het
Tyms	A	T	5: 30,063,362	Y196*	probably null	Het
Ube2o	G	A	11: 116,543,997	T546M	probably damaging	Het
Umodl1	A	G	17: 30,998,169	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unk	A	T	11: 116,059,209	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,606,869	E232G	probably benign	Het
Vps41	A	G	13: 18,829,226	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,344,131	M800V	probably benign	Het
Wt1	T	A	2: 105,163,366	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,510,898	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,668,700	M1001T	possibly damaging	Het
Yeats2	A	T	16: 20,154,152	R19W	probably damaging	Het
Zfp142	T	C	1: 74,576,227	T476A	probably damaging	Het
Zfp229	T	C	17: 21,745,592	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,739,547	F50S	probably damaging	Het
Zfp975	A	T	7: 42,661,989	M400K	probably benign	Het
Zkscan5	A	G	5: 145,207,609	M150V	probably benign	Het
Znfx1	T	A	2: 167,055,955	I350F		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
R5295: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
R9576:Perm1	UTSW	4	156218068	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTGTGTCTGTACCTCCAG -3'
(R):5'- TCCTCAATGGTGTCACAGAAG -3'

Sequencing Primer
(F):5'- TACCTCCAGGGGGAAGCATTG -3'
(R):5'- TGCAAAGCAGTTTCCAGACTCAG -3'

Posted On

2022-08-09