Incidental Mutation 'R1581:Chmp7'
ID171433
Institutional Source Beutler Lab
Gene Symbol Chmp7
Ensembl Gene ENSMUSG00000034190
Gene Namecharged multivesicular body protein 7
Synonyms4930596K11Rik, 6330407G04Rik, CHMP family, member 7
MMRRC Submission 039618-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1581 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location69717000-69732541 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 69719450 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 336 (M336I)
Ref Sequence ENSEMBL: ENSMUSP00000047700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036381]
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: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,179,144 E447G probably benign Het
Actn4 T C 7: 28,898,646 T510A probably benign Het
Adgrb3 A G 1: 25,094,072 M1311T possibly damaging Het
Arfgef1 C T 1: 10,199,878 A349T probably benign Het
Auh G A 13: 52,835,496 P308L probably benign Het
Bicdl1 G T 5: 115,651,267 probably benign Het
Bmyc T C 2: 25,707,334 S137P probably damaging Het
Camsap3 C T 8: 3,604,708 R782C probably damaging Het
Casc3 C T 11: 98,822,818 T292I possibly damaging Het
Cnnm2 A G 19: 46,763,123 T451A probably damaging Het
Eed T C 7: 89,980,468 K20E possibly damaging Het
Eps15 T A 4: 109,363,186 M180K probably benign Het
Esr1 T C 10: 4,997,905 I486T probably damaging Het
Etnppl A G 3: 130,628,744 I207V possibly damaging Het
Fam92a T A 4: 12,155,745 probably null Het
Fancg G A 4: 43,007,039 P246L probably damaging Het
Fcrl1 G A 3: 87,385,723 C249Y possibly damaging Het
Foxred2 A G 15: 77,955,761 F110L possibly damaging Het
Fsip2 A T 2: 82,986,282 N4120Y probably damaging Het
Gm156 T C 6: 129,775,833 D3G probably benign Het
Gm4884 C T 7: 41,043,831 S408L probably benign Het
Gm9476 T C 10: 100,306,612 noncoding transcript Het
Gria1 T C 11: 57,237,010 probably null Het
H6pd T A 4: 149,982,514 I472F possibly damaging Het
Hydin A T 8: 110,410,460 M632L probably benign Het
Hyou1 C T 9: 44,388,870 P819S probably damaging Het
Il6st A G 13: 112,481,541 E163G probably damaging Het
Kcnk1 T C 8: 125,995,539 V27A possibly damaging Het
Kdelr3 T C 15: 79,522,913 probably null Het
Klk1b22 A G 7: 44,115,975 N117S possibly damaging Het
Lpp C A 16: 24,681,841 C134* probably null Het
Lrrc37a G A 11: 103,457,017 R2951* probably null Het
Luzp2 T A 7: 55,249,490 D285E possibly damaging Het
Ly75 C T 2: 60,327,893 R1016H probably damaging Het
Mesp2 T A 7: 79,812,541 S282T possibly damaging Het
Nav3 T C 10: 109,823,428 D776G probably damaging Het
Nr2e1 T C 10: 42,567,968 T253A probably benign Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr398 A T 11: 73,984,521 L29H probably damaging Het
Padi6 T C 4: 140,735,836 Y146C probably damaging Het
Pank4 C T 4: 154,974,651 R414W probably damaging Het
Pclo T G 5: 14,521,282 I227S probably benign Het
Plppr4 A G 3: 117,328,266 V221A possibly damaging Het
Pradc1 G A 6: 85,448,586 R25C probably damaging Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Rnd2 A G 11: 101,471,196 T192A probably benign Het
Rtbdn A G 8: 84,955,066 E131G probably benign Het
Ryr2 A G 13: 11,794,563 V792A probably benign Het
Sacs G T 14: 61,213,679 Q4391H probably damaging Het
Scd2 A G 19: 44,298,099 S123G probably benign Het
Sept9 A G 11: 117,290,595 R74G probably damaging Het
Sipa1l2 T A 8: 125,491,617 Q327L probably damaging Het
Skor1 T C 9: 63,146,223 T127A probably damaging Het
Sphk2 A G 7: 45,713,496 V57A probably damaging Het
Tfec A T 6: 16,844,244 D101E probably damaging Het
Tmem43 T A 6: 91,478,735 H109Q probably benign Het
Tmem67 C A 4: 12,047,814 S839I probably damaging Het
Trpv5 T C 6: 41,653,140 Y672C probably damaging Het
Ttc39d A C 17: 80,216,484 S191R probably benign Het
Ttll1 C T 15: 83,496,277 V296M probably damaging Het
Upp2 A C 2: 58,774,165 K130T possibly damaging Het
Vmn2r5 A G 3: 64,491,219 C780R probably damaging Het
Wars C A 12: 108,875,709 E171* probably null Het
Zeb2 A T 2: 44,997,000 S637T probably damaging Het
Zfp27 T A 7: 29,896,124 T139S possibly damaging Het
Zfp941 A T 7: 140,812,120 L442Q probably benign 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
IGL01339:Chmp7 APN 14 69719406 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCAGGAACAAGGCTGCGTCAAG -3'
(R):5'- TGCCAAGCTGGACACTGTTCAAG -3'

Sequencing Primer
(F):5'- GTTTGGAAAAGAGGCTTGAAGTCAG -3'
(R):5'- TGGACACTGTTCAAGGCATC -3'
Posted On2014-04-13