Incidental Mutation 'R0815:Chmp7'
ID 78590
Institutional Source Beutler Lab
Gene Symbol Chmp7
Ensembl Gene ENSMUSG00000034190
Gene Name charged multivesicular body protein 7
Synonyms 4930596K11Rik, 6330407G04Rik, CHMP family, member 7
MMRRC Submission 038995-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0815 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 69954449-69969990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69956899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 336 (M336I)
Ref Sequence ENSEMBL: ENSMUSP00000047700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036381]
AlphaFold Q8R1T1
Predicted Effect probably benign
Transcript: ENSMUST00000036381
AA Change: M336I

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: M336I

DomainStartEndE-ValueType
low complexity region 143 163 N/A INTRINSIC
Pfam:Snf7 241 417 1.3e-24 PFAM
low complexity region 420 436 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225036
Meta Mutation Damage Score 0.1136 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,865,184 (GRCm39) probably benign Het
Abcf2 A T 5: 24,772,268 (GRCm39) Y487N probably damaging Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Atp2a2 T C 5: 122,609,299 (GRCm39) I188V probably benign Het
Cacna1s A T 1: 136,040,695 (GRCm39) I1231F possibly damaging Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Celsr2 G T 3: 108,308,617 (GRCm39) T1770K possibly damaging Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Dpp10 A G 1: 123,360,658 (GRCm39) probably null Het
Dscaml1 A G 9: 45,656,372 (GRCm39) I1571V probably benign Het
Eif3j2 T A 18: 43,610,036 (GRCm39) Y259F probably benign Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fbxo21 T C 5: 118,133,573 (GRCm39) probably benign Het
Frmd8 A T 19: 5,915,084 (GRCm39) probably benign Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Lipm A T 19: 34,096,161 (GRCm39) T326S probably benign Het
Lrrc8c T C 5: 105,756,400 (GRCm39) L725P probably damaging Het
Map3k19 A G 1: 127,762,375 (GRCm39) probably benign Het
Med31 T A 11: 72,104,657 (GRCm39) N50I probably damaging Het
Myo15b T G 11: 115,757,162 (GRCm39) probably benign Het
Nemp1 T C 10: 127,528,893 (GRCm39) L199S probably damaging Het
Nod2 G A 8: 89,399,290 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or2ak6 A G 11: 58,593,435 (GRCm39) R303G possibly damaging Het
Or5b21 A G 19: 12,840,008 (GRCm39) I290V probably benign Het
Parva G A 7: 112,167,071 (GRCm39) V215M probably damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Rbm11 C T 16: 75,393,525 (GRCm39) R74C probably damaging Het
Robo3 A G 9: 37,333,479 (GRCm39) V744A probably damaging Het
Rsbn1 T G 3: 103,861,469 (GRCm39) S522A probably damaging Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sec31b G A 19: 44,506,612 (GRCm39) Q909* probably null Het
Slc38a11 T A 2: 65,184,124 (GRCm39) I176L possibly damaging Het
Slc39a4 C T 15: 76,496,839 (GRCm39) D574N probably damaging Het
Slc44a1 T G 4: 53,536,421 (GRCm39) V199G possibly damaging Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Son C A 16: 91,452,372 (GRCm39) A373D probably damaging Het
Sp140 C T 1: 85,547,772 (GRCm39) probably benign Het
Speg A G 1: 75,392,036 (GRCm39) Y1606C probably damaging Het
Srgap1 A T 10: 121,621,379 (GRCm39) V1061D probably damaging Het
Stat5a A G 11: 100,765,908 (GRCm39) probably null Het
Supt4a T A 11: 87,628,409 (GRCm39) probably benign Het
Teddm1b A G 1: 153,750,638 (GRCm39) K149R possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tmem131l A G 3: 83,847,879 (GRCm39) S329P probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Upp2 A G 2: 58,661,568 (GRCm39) T144A probably benign Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Chmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Chmp7 APN 14 69,958,772 (GRCm39) missense probably damaging 0.99
IGL01304:Chmp7 APN 14 69,956,062 (GRCm39) missense probably benign 0.08
IGL01339:Chmp7 APN 14 69,956,855 (GRCm39) missense probably damaging 1.00
IGL01818:Chmp7 APN 14 69,956,616 (GRCm39) missense probably damaging 1.00
IGL03005:Chmp7 APN 14 69,957,277 (GRCm39) missense probably damaging 1.00
R0238:Chmp7 UTSW 14 69,958,446 (GRCm39) missense probably damaging 0.98
R0238:Chmp7 UTSW 14 69,958,446 (GRCm39) missense probably damaging 0.98
R0239:Chmp7 UTSW 14 69,958,446 (GRCm39) missense probably damaging 0.98
R0239:Chmp7 UTSW 14 69,958,446 (GRCm39) missense probably damaging 0.98
R0395:Chmp7 UTSW 14 69,969,905 (GRCm39) missense probably benign
R0580:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1136:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1137:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1168:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1206:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1260:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1261:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1262:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1460:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1530:Chmp7 UTSW 14 69,969,937 (GRCm39) start codon destroyed probably null 0.68
R1579:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1581:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R1843:Chmp7 UTSW 14 69,957,248 (GRCm39) missense probably benign 0.00
R1851:Chmp7 UTSW 14 69,956,899 (GRCm39) missense probably benign 0.38
R2254:Chmp7 UTSW 14 69,958,405 (GRCm39) missense probably damaging 0.96
R4075:Chmp7 UTSW 14 69,969,730 (GRCm39) missense probably damaging 0.99
R4298:Chmp7 UTSW 14 69,956,650 (GRCm39) splice site probably null
R4595:Chmp7 UTSW 14 69,958,678 (GRCm39) missense probably damaging 0.96
R4665:Chmp7 UTSW 14 69,958,404 (GRCm39) missense probably damaging 1.00
R4706:Chmp7 UTSW 14 69,956,010 (GRCm39) missense probably benign 0.45
R4732:Chmp7 UTSW 14 69,969,745 (GRCm39) missense probably damaging 0.98
R4733:Chmp7 UTSW 14 69,969,745 (GRCm39) missense probably damaging 0.98
R5207:Chmp7 UTSW 14 69,969,755 (GRCm39) missense probably benign 0.02
R5358:Chmp7 UTSW 14 69,958,684 (GRCm39) missense probably benign 0.15
R8977:Chmp7 UTSW 14 69,958,684 (GRCm39) missense probably benign 0.15
R9098:Chmp7 UTSW 14 69,956,911 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGAACAAGGCTGCGTCAAG -3'
(R):5'- TGCCAAGCTGGACACTGTTCAAG -3'

Sequencing Primer
(F):5'- GTTTGGAAAAGAGGCTTGAAGTCAG -3'
(R):5'- TGGACACTGTTCAAGGCATC -3'
Posted On 2013-10-16