Incidental Mutation 'R1892:Perm1'
ID 211582
Institutional Source Beutler Lab
Gene Symbol Perm1
Ensembl Gene ENSMUSG00000078486
Gene Name PPARGC1 and ESRR induced regulator, muscle 1
Synonyms 2310042D19Rik
MMRRC Submission 039912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1892 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 156300325-156305764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156302340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 295 (R295C)
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: R295C

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
AA Change: R295C

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 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Adat3 T C 10: 80,442,249 (GRCm39) L29P probably damaging Het
AI987944 A T 7: 41,024,020 (GRCm39) C320S probably damaging Het
Asic4 C T 1: 75,446,126 (GRCm39) R285W probably damaging Het
Asic5 A T 3: 81,928,293 (GRCm39) I419L probably damaging Het
Batf A G 12: 85,736,102 (GRCm39) K42E probably damaging Het
Bcar3 A G 3: 122,301,785 (GRCm39) N160S probably benign Het
Bco2 C A 9: 50,461,863 (GRCm39) G47V probably damaging Het
Bicc1 T G 10: 70,794,614 (GRCm39) K181T probably damaging Het
Brinp2 A G 1: 158,082,542 (GRCm39) probably null Het
Cacng8 A G 7: 3,463,568 (GRCm39) D240G possibly damaging Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cdh1 A T 8: 107,390,882 (GRCm39) K666I possibly damaging Het
Cdh16 A T 8: 105,344,631 (GRCm39) I500N possibly damaging Het
Chst14 A G 2: 118,757,830 (GRCm39) Y208C probably damaging Het
Chst9 T C 18: 15,586,017 (GRCm39) H182R probably damaging Het
Clk2 A G 3: 89,082,502 (GRCm39) I367M possibly damaging Het
Cobl G C 11: 12,203,258 (GRCm39) S1066W probably damaging Het
Ctcfl A G 2: 172,960,478 (GRCm39) V35A probably benign Het
Dchs1 G T 7: 105,413,363 (GRCm39) H1151N probably benign Het
Dennd1c T C 17: 57,374,083 (GRCm39) T529A probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dync1h1 A G 12: 110,612,738 (GRCm39) Y2871C probably damaging Het
Dytn T C 1: 63,716,420 (GRCm39) E51G probably benign Het
Esd C T 14: 74,987,113 (GRCm39) A266V probably damaging Het
Gli1 T C 10: 127,165,975 (GRCm39) M1093V possibly damaging Het
Gm15446 A G 5: 110,091,253 (GRCm39) K502E probably damaging Het
Gm4076 T A 13: 85,275,447 (GRCm39) noncoding transcript Het
Gm9830 A G 9: 44,375,825 (GRCm39) noncoding transcript Het
Gm9938 G A 19: 23,701,955 (GRCm39) probably benign Het
Grhl1 G A 12: 24,634,909 (GRCm39) R245H probably damaging Het
Hnrnpul1 A T 7: 25,426,191 (GRCm39) D553E probably benign Het
Hpn G A 7: 30,798,468 (GRCm39) Q415* probably null Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il1rl2 A G 1: 40,366,694 (GRCm39) H76R probably damaging Het
Insrr G A 3: 87,721,184 (GRCm39) V1112M probably damaging Het
Ints9 T C 14: 65,257,872 (GRCm39) S351P probably benign Het
Itgav T A 2: 83,601,680 (GRCm39) N350K probably damaging Het
Kdm4d C A 9: 14,375,613 (GRCm39) V82L probably benign Het
Klc1 T C 12: 111,748,261 (GRCm39) probably null Het
Kmt5c T A 7: 4,745,714 (GRCm39) C69* probably null Het
Lgals3 T G 14: 47,622,164 (GRCm39) N193K possibly damaging Het
Morc2b T A 17: 33,354,748 (GRCm39) D1008V probably damaging Het
Mpg C T 11: 32,181,720 (GRCm39) Q243* probably null Het
Muc15 C T 2: 110,567,697 (GRCm39) R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nek5 A G 8: 22,597,745 (GRCm39) M278T probably benign Het
Npas2 A G 1: 39,384,503 (GRCm39) T599A probably benign Het
Nrf1 A G 6: 30,144,787 (GRCm39) D519G probably null Het
Nup43 A G 10: 7,549,373 (GRCm39) H176R probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j3 T C 1: 173,031,795 (GRCm39) Y291H probably damaging Het
Or5p72 A T 7: 108,022,147 (GRCm39) Y123F possibly damaging Het
Or6c75 A C 10: 129,336,902 (GRCm39) I50L probably benign Het
Pik3ip1 G T 11: 3,283,304 (GRCm39) A135S probably damaging Het
Pira13 A C 7: 3,827,573 (GRCm39) C195G probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Prepl A G 17: 85,395,878 (GRCm39) Y35H possibly damaging Het
Ptpn13 A G 5: 103,649,545 (GRCm39) Y316C possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Ranbp2 T C 10: 58,299,921 (GRCm39) V491A probably benign Het
Ranbp9 C A 13: 43,569,933 (GRCm39) C495F possibly damaging Het
Rfx8 A T 1: 39,709,746 (GRCm39) probably null Het
Rnf111 T A 9: 70,383,656 (GRCm39) K92N probably damaging Het
Rtn1 A G 12: 72,259,337 (GRCm39) I772T probably damaging Het
Ryr2 T A 13: 11,673,844 (GRCm39) K72* probably null Het
Sergef A T 7: 46,264,040 (GRCm39) probably null Het
Sez6l T C 5: 112,620,665 (GRCm39) N305S probably damaging Het
Slc40a1 A T 1: 45,950,302 (GRCm39) C383* probably null Het
Stab2 C T 10: 86,773,913 (GRCm39) C806Y probably damaging Het
Stard9 A G 2: 120,524,189 (GRCm39) T795A probably benign Het
Stk31 T C 6: 49,415,408 (GRCm39) I536T probably damaging Het
Stox1 T A 10: 62,501,178 (GRCm39) T461S possibly damaging Het
Suv39h2 T C 2: 3,460,805 (GRCm39) Y219C probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Tbc1d2b T A 9: 90,100,996 (GRCm39) I665F probably damaging Het
Tdrd6 T C 17: 43,935,696 (GRCm39) N1784S probably benign Het
Tmem14c T C 13: 41,174,633 (GRCm39) F81L possibly damaging Het
Tnrc6c A G 11: 117,605,188 (GRCm39) N108D probably benign Het
Tox3 A T 8: 90,996,869 (GRCm39) N131K probably benign Het
Tspear T A 10: 77,706,308 (GRCm39) D359E probably benign Het
Ttc9 A G 12: 81,678,551 (GRCm39) I125V probably benign Het
Ttn A T 2: 76,728,531 (GRCm39) probably benign Het
Ubn2 C T 6: 38,468,226 (GRCm39) S980F probably damaging Het
Vcf1 G T 11: 113,554,212 (GRCm39) P161H probably damaging Het
Zfp362 T A 4: 128,684,057 (GRCm39) T30S probably benign Het
Zfp385c A C 11: 100,528,630 (GRCm39) H32Q probably damaging Het
Zfp870 A T 17: 33,102,863 (GRCm39) H156Q possibly damaging Het
Zfp873 T C 10: 81,897,080 (GRCm39) C641R probably damaging Het
Zfp950 A T 19: 61,107,549 (GRCm39) H511Q probably benign 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
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
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'- AGGATAAGCCACAGCCTGAC -3'
(R):5'- GGTGTAGACAAAGCCGTGTC -3'

Sequencing Primer
(F):5'- CTCCACGAGTCCTGAACAGATGG -3'
(R):5'- TGTCAGGCTCAGAGGCAG -3'
Posted On 2014-06-30