Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Perm1'

352015

Institutional Source

Beutler Lab

Gene Symbol

Perm1

Ensembl Gene

ENSMUSG00000078486

Gene Name

PPARGC1 and ESRR induced regulator, muscle 1

Synonyms

2310042D19Rik

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156215868-156221307 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 156220206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 803 (S803*)

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: S803*

SMART Domains

Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: S803*

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: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	T	17: 28,908,313	Q241K	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Akap2	A	T	4: 57,855,655	D328V	possibly damaging	Het
Ankhd1	C	A	18: 36,648,021	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509		probably benign	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Btbd17	A	G	11: 114,793,857	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283	K267N	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Chd9	T	C	8: 91,033,800	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,024,167	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,295,079	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892		probably benign	Het
Csn1s2b	A	G	5: 87,822,311	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081		probably benign	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
Dhx8	A	G	11: 101,738,161	S179G	unknown	Het
Dip2b	A	G	15: 100,151,360	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700		probably benign	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186	V153I	probably benign	Het
Fam186a	G	A	15: 99,944,532	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 21,963,346	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gm609	A	G	16: 45,444,163	S11P	probably benign	Het
Gphn	T	C	12: 78,454,817	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181		probably benign	Het
Hspg2	C	T	4: 137,539,645	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298	H1960Q	probably benign	Het
March7	C	T	2: 60,241,050	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,298,260	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153	E1272G	possibly damaging	Het
Nars	A	G	18: 64,505,231	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010	S190A	probably damaging	Het
Olfr148	T	C	9: 39,613,738	M57T	probably damaging	Het
Olfr243	A	G	7: 103,716,638	T15A	probably benign	Het
Olfr870	T	C	9: 20,171,098	I158V	probably benign	Het
Olfr965	G	T	9: 39,719,709	V161F	probably benign	Het
Optn	T	C	2: 5,033,139	K415E	probably benign	Het
Pex14	T	C	4: 148,984,085	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821	N171S	probably benign	Het
Prrx1	A	G	1: 163,254,047	S201P	probably benign	Het
Psme2b	A	T	11: 48,945,666	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047		probably null	Het
Sipa1l2	T	C	8: 125,453,470	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Tmem2	G	A	19: 21,797,351	R119H	probably benign	Het
Tmem2	C	T	19: 21,844,781	A1180V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317	V33A	probably benign	Het
Uck1	T	A	2: 32,256,034	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086	M1V	probably null	Het
Wrn	A	T	8: 33,324,338	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272	G391V	probably damaging	Het
Zcchc11	G	A	4: 108,495,159	E357K	probably damaging	Het
Zfp286	A	G	11: 62,780,602	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	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
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
R9569:Perm1	UTSW	4	156218582	missense	probably benign	0.13
R9576:Perm1	UTSW	4	156218068	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTGTCCTTTGAAGACTGCG -3'
(R):5'- TTCAGGTATGGAAAATGCCCTTG -3'

Sequencing Primer
(F):5'- CGTTGTGCAGGCAGAAGTC -3'
(R):5'- AGTCAGTGACTGGACCCTTAG -3'

Posted On

2015-10-08