Incidental Mutation 'IGL02601:Vps4a'
ID300102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps4a
Ensembl Gene ENSMUSG00000031913
Gene Namevacuolar protein sorting 4A
Synonyms4930589C15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02601
Quality Score
Status
Chromosome8
Chromosomal Location107031222-107045755 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107043061 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 334 (I334T)
Ref Sequence ENSEMBL: ENSMUSP00000034388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034388] [ENSMUST00000034391] [ENSMUST00000055316] [ENSMUST00000095517]
Predicted Effect probably damaging
Transcript: ENSMUST00000034388
AA Change: I334T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034388
Gene: ENSMUSG00000031913
AA Change: I334T

DomainStartEndE-ValueType
MIT 2 80 2.02e-27 SMART
low complexity region 90 102 N/A INTRINSIC
AAA 159 295 2.89e-22 SMART
Blast:AAA 329 358 8e-9 BLAST
Pfam:Vps4_C 374 434 1.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034391
SMART Domains Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055316
SMART Domains Protein: ENSMUSP00000138676
Gene: ENSMUSG00000078931

DomainStartEndE-ValueType
Pfam:Pep_deformylase 52 222 2.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095517
SMART Domains Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:Dor1 56 394 7.6e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144527
Predicted Effect probably benign
Transcript: ENSMUST00000154271
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,307,786 V57M probably damaging Het
Agap3 A G 5: 24,483,371 K23E possibly damaging Het
Anln A T 9: 22,338,035 I132K probably damaging Het
Anxa4 T C 6: 86,760,701 T13A probably benign Het
Bdp1 A T 13: 100,098,514 Y191N possibly damaging Het
Carm1 G A 9: 21,586,908 V403M probably damaging Het
Cbx7 A G 15: 79,923,470 probably null Het
Chd8 A C 14: 52,214,300 N16K possibly damaging Het
Crtc3 A T 7: 80,592,567 D499E probably damaging Het
Cul3 A G 1: 80,271,715 probably benign Het
D430041D05Rik T C 2: 104,230,286 D1421G probably damaging Het
Fgb T A 3: 83,045,060 E167D probably benign Het
Gimap6 T A 6: 48,702,475 Q209L probably damaging Het
Gm3604 G A 13: 62,370,176 H123Y possibly damaging Het
Gm5884 A T 6: 128,645,786 noncoding transcript Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Obox3 T C 7: 15,626,923 E97G probably damaging Het
Obsl1 T C 1: 75,489,620 H1488R probably benign Het
Olfr1508 A T 14: 52,463,345 Y221* probably null Het
Olfr790 A G 10: 129,501,854 *323W probably null Het
Pak7 T A 2: 136,116,935 K78* probably null Het
Paqr9 A G 9: 95,560,824 N289S probably damaging Het
Pde3b G A 7: 114,523,342 R715H probably damaging Het
Pglyrp2 T C 17: 32,415,861 H509R probably benign Het
Pik3ap1 A C 19: 41,302,442 N550K probably benign Het
Pon3 A G 6: 5,221,671 Y320H probably damaging Het
Ptprt T A 2: 161,766,307 T690S probably benign Het
Ptprz1 T A 6: 23,000,687 D925E probably benign Het
Rag1 T C 2: 101,642,673 D708G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rbmy1b A G Y: 3,774,885 I27M probably benign Het
Rfx2 G A 17: 56,785,354 H315Y possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sis T C 3: 72,913,210 N1407S probably benign Het
Slco1c1 T A 6: 141,544,829 L261Q probably damaging Het
Sox30 T G 11: 45,984,762 L447R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssu72 A G 4: 155,705,425 N15S possibly damaging Het
Stat4 C T 1: 52,098,415 S455F probably damaging Het
Stk4 T A 2: 164,086,542 L97Q probably damaging Het
Sulf1 A T 1: 12,786,645 N40I probably damaging Het
Sympk G A 7: 19,048,869 V877I probably benign Het
Taar7b A T 10: 24,000,306 H123L probably damaging Het
Teddm1b A G 1: 153,874,616 Y57C probably damaging Het
Tep1 A T 14: 50,833,478 C2121* probably null Het
Tnfsf11 T A 14: 78,299,945 R93* probably null Het
Tspan12 A C 6: 21,835,379 probably benign Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Zfhx3 T C 8: 108,856,830 S1110P probably damaging Het
Zfp507 A G 7: 35,791,711 S716P probably damaging Het
Other mutations in Vps4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Vps4a APN 8 107042626 missense probably benign 0.00
IGL01123:Vps4a APN 8 107039219 splice site probably benign
IGL01538:Vps4a APN 8 107036924 missense probably benign 0.03
IGL02524:Vps4a APN 8 107036751 splice site probably benign
IGL02616:Vps4a APN 8 107042277 missense probably damaging 1.00
IGL03216:Vps4a APN 8 107036703 missense probably damaging 0.99
R0047:Vps4a UTSW 8 107036701 missense probably damaging 0.97
R0047:Vps4a UTSW 8 107036701 missense probably damaging 0.97
R0330:Vps4a UTSW 8 107043066 missense probably benign 0.01
R1384:Vps4a UTSW 8 107036644 missense possibly damaging 0.94
R1933:Vps4a UTSW 8 107044558 missense probably benign 0.21
Posted On2015-04-16