Incidental Mutation 'R8680:Perm1'
ID 661660
Institutional Source Beutler Lab
Gene Symbol Perm1
Ensembl Gene ENSMUSG00000078486
Gene Name PPARGC1 and ESRR induced regulator, muscle 1
Synonyms 2310042D19Rik
MMRRC Submission 068535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8680 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 156300325-156305764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 156302091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 212 (T212A)
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 benign
Transcript: ENSMUST00000105572
AA Change: T212A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: T212A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,551 (GRCm39) Y195C probably damaging Het
Abcb1a T A 5: 8,735,371 (GRCm39) F159L probably damaging Het
Adam6b A G 12: 113,454,371 (GRCm39) N396S probably benign Het
Adamts15 T C 9: 30,823,055 (GRCm39) M338V possibly damaging Het
Adamts7 T A 9: 90,077,321 (GRCm39) H1329Q probably damaging Het
Aim2 C T 1: 173,289,786 (GRCm39) P243L probably damaging Het
Ankdd1a T C 9: 65,412,418 (GRCm39) D311G probably damaging Het
Apon A T 10: 128,090,428 (GRCm39) E35D probably benign Het
Atp1a4 T C 1: 172,078,566 (GRCm39) D224G probably damaging Het
Atp6v0a1 T A 11: 100,953,229 (GRCm39) *839R probably null Het
Bco2 A G 9: 50,461,878 (GRCm39) L42P probably damaging Het
Bicral T A 17: 47,141,873 (GRCm39) probably benign Het
Ccna1 T C 3: 54,955,878 (GRCm39) Q306R probably benign Het
Cep152 G T 2: 125,406,131 (GRCm39) S1467* probably null Het
Cfap44 T A 16: 44,225,085 (GRCm39) V110E probably damaging Het
Clip2 G A 5: 134,531,462 (GRCm39) A781V probably benign Het
Cps1 A T 1: 67,243,772 (GRCm39) I1083F probably damaging Het
Cux1 A G 5: 136,336,710 (GRCm39) V934A possibly damaging Het
Depdc5 T C 5: 33,101,382 (GRCm39) F891L possibly damaging Het
Dnai7 T A 6: 145,127,542 (GRCm39) I456F probably benign Het
Dnajc13 A G 9: 104,057,338 (GRCm39) V1554A probably benign Het
Echs1 A T 7: 139,690,499 (GRCm39) M191K probably damaging Het
Eif6 T A 2: 155,664,772 (GRCm39) D238V probably benign Het
Fat2 G A 11: 55,144,692 (GRCm39) L4061F probably benign Het
Fat3 T C 9: 15,908,703 (GRCm39) D2433G probably damaging Het
Flt3 A G 5: 147,320,265 (GRCm39) V33A probably benign Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gpr155 T C 2: 73,174,039 (GRCm39) E790G probably damaging Het
Ighv1-67 A T 12: 115,567,861 (GRCm39) V17E probably damaging Het
Klra9 T A 6: 130,165,639 (GRCm39) R125S probably damaging Het
Leo1 T C 9: 75,353,277 (GRCm39) probably null Het
Map2 G T 1: 66,460,872 (GRCm39) R1556L probably damaging Het
Megf8 A G 7: 25,059,166 (GRCm39) probably null Het
Meikin T C 11: 54,317,477 (GRCm39) I426T possibly damaging Het
Muc16 A T 9: 18,556,015 (GRCm39) V3426E unknown Het
Or4a15 T A 2: 89,193,065 (GRCm39) Y236F probably benign Het
Or51af1 G A 7: 103,142,029 (GRCm39) L19F probably damaging Het
Or52n2c A G 7: 104,574,620 (GRCm39) L117P probably damaging Het
Or7e168 T G 9: 19,720,105 (GRCm39) S164A possibly damaging Het
Or8k25 T C 2: 86,243,935 (GRCm39) I154V probably benign Het
Or9s13 T C 1: 92,547,643 (GRCm39) V5A probably benign Het
Otogl A G 10: 107,747,936 (GRCm39) probably null Het
Palm3 T C 8: 84,756,504 (GRCm39) L672P probably damaging Het
Poc1a T C 9: 106,226,960 (GRCm39) M400T probably benign Het
Pou6f2 T A 13: 18,414,196 (GRCm39) Q193L unknown Het
Ppl C T 16: 4,905,300 (GRCm39) R1665H probably benign Het
Ppp4r3b T C 11: 29,123,449 (GRCm39) probably null Het
Ptger1 T C 8: 84,394,654 (GRCm39) S44P probably damaging Het
Pzp T C 6: 128,473,009 (GRCm39) T787A probably benign Het
Rab44 A T 17: 29,358,642 (GRCm39) R277* probably null Het
Rasgef1a T A 6: 118,064,088 (GRCm39) I334K probably damaging Het
Rfx1 T C 8: 84,818,084 (GRCm39) V554A possibly damaging Het
Ripk1 T A 13: 34,214,032 (GRCm39) I518K possibly damaging Het
Rpl22 A G 4: 152,416,763 (GRCm39) Y90C probably damaging Het
Rps27a C A 11: 29,495,998 (GRCm39) R118L probably benign Het
Scmh1 T A 4: 120,319,331 (GRCm39) S19T probably benign Het
Scn10a C T 9: 119,520,509 (GRCm39) probably null Het
Sema4c A T 1: 36,589,867 (GRCm39) S496T probably benign Het
Serpina3i T C 12: 104,231,387 (GRCm39) V8A possibly damaging Het
Sis G A 3: 72,867,628 (GRCm39) T139M probably damaging Het
Skic3 A T 13: 76,303,587 (GRCm39) H1227L probably benign Het
Slc45a2 T A 15: 11,000,972 (GRCm39) S24T probably benign Het
Slc5a11 A G 7: 122,866,975 (GRCm39) I423M probably benign Het
Slc7a10 G A 7: 34,885,997 (GRCm39) G31S probably benign Het
Sowahc A G 10: 59,059,001 (GRCm39) N379S probably benign Het
Stat5a T C 11: 100,774,714 (GRCm39) M741T unknown Het
Tcf15 T C 2: 151,986,020 (GRCm39) S159P probably benign Het
Tdrd5 C A 1: 156,098,788 (GRCm39) R669L possibly damaging Het
Tln1 T C 4: 43,553,041 (GRCm39) E350G possibly damaging Het
Trim12c T G 7: 103,997,271 (GRCm39) N95T Het
Urb1 T C 16: 90,571,513 (GRCm39) T1099A probably benign Het
Vmn1r44 T A 6: 89,870,578 (GRCm39) V108D probably damaging Het
Vmn2r65 A G 7: 84,589,388 (GRCm39) Y843H probably benign Het
Vmn2r68 A G 7: 84,871,321 (GRCm39) I654T possibly damaging Het
Vps13a T C 19: 16,623,270 (GRCm39) N2797S possibly damaging Het
Wscd2 T C 5: 113,712,235 (GRCm39) Y385H probably damaging Het
Xdh T C 17: 74,229,500 (GRCm39) I318V probably benign Het
Xrcc3 T A 12: 111,774,313 (GRCm39) K172M 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
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
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'- CCTAGCTCTCCCAGTAAAGC -3'
(R):5'- CCTGGACAGGTTTGGATACCAC -3'

Sequencing Primer
(F):5'- GTAAAGCCCCTCATAGTCCTGAGTC -3'
(R):5'- CAGGTTTGGATACCACATGTAACGC -3'
Posted On 2021-03-08