Incidental Mutation 'R6573:Perm1'
ID 523308
Institutional Source Beutler Lab
Gene Symbol Perm1
Ensembl Gene ENSMUSG00000078486
Gene Name PPARGC1 and ESRR induced regulator, muscle 1
Synonyms 2310042D19Rik
MMRRC Submission 044697-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R6573 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 156300325-156305764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 156303130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 558 (A558D)
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

DomainStartEndE-ValueType
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: A558D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: A558D

DomainStartEndE-ValueType
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 0.1372 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ceacam5 A G 7: 17,447,372 (GRCm39) M1V probably null Het
Clstn1 A G 4: 149,728,146 (GRCm39) T605A probably damaging Het
Cstf2t A G 19: 31,061,180 (GRCm39) M239V probably benign Het
Dsp A T 13: 38,380,838 (GRCm39) R1929W probably damaging Het
Edf1 G T 2: 25,451,875 (GRCm39) R133L probably damaging Het
Efcab3 A T 11: 104,971,461 (GRCm39) Y129F possibly damaging Het
Entrep1 T A 19: 23,965,866 (GRCm39) N211I probably damaging Het
Fbxo34 A T 14: 47,767,124 (GRCm39) L212F possibly damaging Het
Flacc1 A G 1: 58,706,003 (GRCm39) F289L probably benign Het
Gas2l3 C A 10: 89,258,072 (GRCm39) probably null Het
Gfod1 C T 13: 43,353,841 (GRCm39) S378N probably damaging Het
Gse1 T C 8: 121,294,536 (GRCm39) S288P probably damaging Het
Gzme T A 14: 56,356,283 (GRCm39) T72S probably benign Het
Hyal5 T C 6: 24,891,551 (GRCm39) V455A probably damaging Het
Megf9 A T 4: 70,406,409 (GRCm39) C252* probably null Het
Mrgprg T C 7: 143,318,333 (GRCm39) K260E possibly damaging Het
Nmi T A 2: 51,840,081 (GRCm39) K220M possibly damaging Het
Nutm1 A C 2: 112,081,388 (GRCm39) probably null Het
Or2ag1b A T 7: 106,288,670 (GRCm39) D89E probably benign Het
Or8k16 C T 2: 85,520,343 (GRCm39) S190L probably damaging Het
Pde4b T A 4: 102,287,359 (GRCm39) I34N probably damaging Het
Pgpep1 A G 8: 71,103,265 (GRCm39) I203T probably benign Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Prune2 G T 19: 17,098,521 (GRCm39) G1342C probably damaging Het
Prune2 G T 19: 17,098,522 (GRCm39) G1342V possibly damaging Het
Ros1 T A 10: 52,031,106 (GRCm39) I512F possibly damaging Het
Slc10a5 A T 3: 10,400,110 (GRCm39) F183L probably damaging Het
Slc13a1 T C 6: 24,137,094 (GRCm39) R107G probably damaging Het
Spag5 C T 11: 78,205,008 (GRCm39) Q598* probably null Het
Spata6 T A 4: 111,636,476 (GRCm39) F256I probably damaging Het
Tnnt1 C A 7: 4,517,333 (GRCm39) probably null Het
Top2b T A 14: 16,398,991 (GRCm38) L537Q probably damaging Het
Unc79 G A 12: 103,027,647 (GRCm39) E413K probably damaging Het
Vmn2r104 A T 17: 20,262,487 (GRCm39) F214L probably damaging Het
Vmn2r118 C T 17: 55,899,996 (GRCm39) C636Y probably damaging Het
Zfat T C 15: 68,037,703 (GRCm39) N917S probably damaging Het
Zfp317 T C 9: 19,556,550 (GRCm39) S53P probably damaging Het
Other mutations in Perm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAGGTGTGTCTGTACCTCCAG -3'
(R):5'- CAGGCCATTGGACTTCATCC -3'

Sequencing Primer
(F):5'- AGTTCTCAGCAGGGTCCTCAG -3'
(R):5'- CAGGGCTTGGCTGGCTG -3'
Posted On 2018-06-22