Incidental Mutation 'IGL01339:Chmp7'
ID74734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chmp7
Ensembl Gene ENSMUSG00000034190
Gene Namecharged multivesicular body protein 7
Synonyms4930596K11Rik, 6330407G04Rik, CHMP family, member 7
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01339
Quality Score
Status
Chromosome14
Chromosomal Location69717000-69732541 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69719406 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 351 (I351N)
Ref Sequence ENSEMBL: ENSMUSP00000047700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036381]
Predicted Effect probably damaging
Transcript: ENSMUST00000036381
AA Change: I351N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: I351N

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,289,512 T2565A probably damaging Het
C8a A C 4: 104,827,985 F354V probably benign Het
Cadps C T 14: 12,486,543 V876M possibly damaging Het
Clec7a A T 6: 129,465,486 W193R probably damaging Het
Clint1 T C 11: 45,909,019 V535A probably benign Het
Clu A G 14: 65,975,588 E141G probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cntn2 A T 1: 132,518,905 probably null Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cyp2d10 C T 15: 82,403,841 A195T probably benign Het
Dnah10 G T 5: 124,777,212 K1901N probably damaging Het
Dopey1 G A 9: 86,551,677 D2329N possibly damaging Het
Eipr1 A G 12: 28,864,771 E308G probably damaging Het
Exoc4 T C 6: 33,305,400 probably benign Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbn2 T C 18: 58,113,370 T487A possibly damaging Het
Fbxo40 T C 16: 36,970,454 E98G probably damaging Het
Folh1 G A 7: 86,726,098 T527I probably damaging Het
Gls C T 1: 52,188,708 D217N probably damaging Het
Gm6994 A G 14: 77,481,178 probably benign Het
Gpr149 A T 3: 62,604,297 W94R probably damaging Het
Gpr158 A G 2: 21,369,031 D259G possibly damaging Het
Hcn2 T C 10: 79,729,068 L438P probably damaging Het
Hgd A C 16: 37,631,730 T374P possibly damaging Het
Ints3 A G 3: 90,415,156 probably null Het
Kctd5 A T 17: 24,057,775 V172E probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lrrc37a A G 11: 103,497,937 S2221P unknown Het
Ltk T A 2: 119,752,974 D310V probably damaging Het
Luzp1 T A 4: 136,542,776 M770K probably damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Mzb1 T A 18: 35,648,346 H71L probably benign Het
Necap2 G A 4: 141,074,965 T63I probably benign Het
Nefl A G 14: 68,086,482 probably benign Het
Odam G A 5: 87,885,896 probably null Het
Pcdh18 A G 3: 49,755,798 I356T probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Pde2a T C 7: 101,507,159 S593P probably benign Het
Rapgef3 A T 15: 97,758,059 L359M probably damaging Het
Rb1 T C 14: 73,264,371 probably null Het
Rbm44 A G 1: 91,168,964 I976V probably benign Het
Rdh13 A T 7: 4,427,624 S278R probably damaging Het
Rgma A G 7: 73,417,483 E256G probably damaging Het
Rnf112 A T 11: 61,450,477 D402E probably benign Het
Rnps1 T A 17: 24,422,299 D224E probably damaging Het
Scn10a C T 9: 119,622,766 V1364M probably damaging Het
Scn1a C T 2: 66,325,960 R535H probably benign Het
Scn8a A T 15: 101,032,201 D1431V probably benign Het
Setdb1 A T 3: 95,338,580 L677* probably null Het
Slc17a8 T A 10: 89,591,244 I148F probably damaging Het
Slx4ip T A 2: 137,044,055 C98* probably null Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Tcof1 T C 18: 60,818,095 probably benign Het
Tdrd3 G A 14: 87,480,794 V210I possibly damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tmod4 G A 3: 95,128,297 R252H probably benign Het
Tti1 G T 2: 158,009,130 P63Q possibly damaging Het
Tuft1 A T 3: 94,628,287 D109E probably damaging Het
Wdr63 T C 3: 146,042,836 Y841C probably benign Het
Zcchc2 T C 1: 106,029,775 S659P probably damaging Het
Other mutations in Chmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Chmp7 APN 14 69721323 missense probably damaging 0.99
IGL01304:Chmp7 APN 14 69718613 missense probably benign 0.08
IGL01818:Chmp7 APN 14 69719167 missense probably damaging 1.00
IGL03005:Chmp7 APN 14 69719828 missense probably damaging 1.00
R0238:Chmp7 UTSW 14 69720997 missense probably damaging 0.98
R0238:Chmp7 UTSW 14 69720997 missense probably damaging 0.98
R0239:Chmp7 UTSW 14 69720997 missense probably damaging 0.98
R0239:Chmp7 UTSW 14 69720997 missense probably damaging 0.98
R0395:Chmp7 UTSW 14 69732456 missense probably benign
R0580:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R0815:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1136:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1137:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1168:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1206:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1260:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1261:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1262:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1460:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1530:Chmp7 UTSW 14 69732488 start codon destroyed probably null 0.68
R1579:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1581:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R1843:Chmp7 UTSW 14 69719799 missense probably benign 0.00
R1851:Chmp7 UTSW 14 69719450 missense probably benign 0.38
R2254:Chmp7 UTSW 14 69720956 missense probably damaging 0.96
R4075:Chmp7 UTSW 14 69732281 missense probably damaging 0.99
R4298:Chmp7 UTSW 14 69719201 splice site probably null
R4595:Chmp7 UTSW 14 69721229 missense probably damaging 0.96
R4665:Chmp7 UTSW 14 69720955 missense probably damaging 1.00
R4706:Chmp7 UTSW 14 69718561 missense probably benign 0.45
R4732:Chmp7 UTSW 14 69732296 missense probably damaging 0.98
R4733:Chmp7 UTSW 14 69732296 missense probably damaging 0.98
R5207:Chmp7 UTSW 14 69732306 missense probably benign 0.02
R5358:Chmp7 UTSW 14 69721235 missense probably benign 0.15
Posted On2013-10-07