Incidental Mutation 'R4075:Chmp7'
ID 316533
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 040974-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4075 (G1)
Quality Score 154
Status Not validated
Chromosome 14
Chromosomal Location 69954449-69969990 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69969730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 70 (V70E)
Ref Sequence ENSEMBL: ENSMUSP00000047700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036381]
AlphaFold Q8R1T1
Predicted Effect probably damaging
Transcript: ENSMUST00000036381
AA Change: V70E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: V70E

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: ENSMUST00000180465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225036
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Adgrf5 T G 17: 43,761,086 (GRCm39) V927G probably damaging Het
Agtr1a A G 13: 30,565,817 (GRCm39) N294S probably damaging Het
Aspm T C 1: 139,402,023 (GRCm39) L1229S probably damaging Het
Cnot10 A G 9: 114,452,015 (GRCm39) F254L possibly damaging Het
Cubn A G 2: 13,318,810 (GRCm39) V2963A possibly damaging Het
Depp1 A G 6: 116,629,029 (GRCm39) N124S possibly damaging Het
Dnah5 T A 15: 28,293,937 (GRCm39) D1347E probably benign Het
Dsg1a T G 18: 20,473,127 (GRCm39) N733K possibly damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Egf C T 3: 129,529,618 (GRCm39) R264Q probably benign Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Fsip2 C T 2: 82,813,245 (GRCm39) S3188L probably benign Het
Herc1 A G 9: 66,325,774 (GRCm39) D1416G probably benign Het
Hormad1 T C 3: 95,485,514 (GRCm39) M234T possibly damaging Het
Ifi44 A T 3: 151,451,613 (GRCm39) N164K probably benign Het
Ikzf3 G T 11: 98,358,469 (GRCm39) Y289* probably null Het
Il17rc A G 6: 113,458,158 (GRCm39) D327G possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Lce1l C T 3: 92,757,540 (GRCm39) S106N unknown Het
Lrig3 C T 10: 125,849,277 (GRCm39) T999I probably benign Het
Map4k4 T C 1: 40,062,622 (GRCm39) Y1196H probably damaging Het
Mtr C A 13: 12,230,298 (GRCm39) probably null Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Nxt1 A G 2: 148,517,652 (GRCm39) D131G probably damaging Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5bw2 T C 7: 6,573,142 (GRCm39) S51P probably benign Het
Pcdh7 A G 5: 57,879,150 (GRCm39) R902G probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Ptpn1 T A 2: 167,818,433 (GRCm39) probably null Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Slc28a2b T G 2: 122,344,892 (GRCm39) V166G probably benign Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Ssrp1 A C 2: 84,875,912 (GRCm39) K590N possibly damaging Het
Svs5 T C 2: 164,079,238 (GRCm39) E223G probably benign Het
Tab3 G T X: 84,658,063 (GRCm39) V197F probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,764,374 (GRCm39) H417L possibly damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp677 T C 17: 21,618,421 (GRCm39) Y493H probably 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
R0815: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
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'- TGAGTCCAGACATCCATCCG -3'
(R):5'- CGGGACTTTTATCGCACAGG -3'

Sequencing Primer
(F):5'- TGAACAAACCCTGGACGCG -3'
(R):5'- TTCCGATGTGGTCCCCG -3'
Posted On 2015-05-15