Incidental Mutation 'R5375:Vps4b'
ID 428986
Institutional Source Beutler Lab
Gene Symbol Vps4b
Ensembl Gene ENSMUSG00000009907
Gene Name vacuolar protein sorting 4B
Synonyms Skd1, 8030489C12Rik
MMRRC Submission 042951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R5375 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 106698518-106724455 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106719422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 42 (L42P)
Ref Sequence ENSEMBL: ENSMUSP00000108356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094646] [ENSMUST00000112736]
AlphaFold P46467
Predicted Effect probably benign
Transcript: ENSMUST00000094646
AA Change: L42P

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092230
Gene: ENSMUSG00000009907
AA Change: L42P

DomainStartEndE-ValueType
MIT 4 82 7.95e-26 SMART
AAA 166 302 1.55e-22 SMART
Blast:AAA 322 366 3e-10 BLAST
Pfam:Vps4_C 381 441 1.4e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112736
AA Change: L42P

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108356
Gene: ENSMUSG00000009907
AA Change: L42P

DomainStartEndE-ValueType
MIT 4 82 7.95e-26 SMART
AAA 166 302 1.55e-22 SMART
Blast:AAA 322 366 3e-10 BLAST
Pfam:Vps4_C 380 441 7.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127606
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a 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 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T A 12: 4,260,870 (GRCm39) N995K probably damaging Het
Aldh4a1 T C 4: 139,361,233 (GRCm39) M60T probably benign Het
Alpk2 A T 18: 65,505,809 (GRCm39) H70Q probably damaging Het
Babam2 T A 5: 31,859,207 (GRCm39) I5N possibly damaging Het
Blm T C 7: 80,162,977 (GRCm39) T125A probably benign Het
Bloc1s1 T C 10: 128,759,826 (GRCm39) probably benign Het
Calcr G T 6: 3,714,651 (GRCm39) Q160K probably benign Het
Ccdc43 C T 11: 102,581,058 (GRCm39) A131T probably damaging Het
Cdh15 A T 8: 123,591,839 (GRCm39) N575Y probably damaging Het
Chd8 T C 14: 52,441,611 (GRCm39) D827G probably damaging Het
Col3a1 A G 1: 45,387,059 (GRCm39) probably null Het
Creb5 A T 6: 53,658,002 (GRCm39) M255L possibly damaging Het
Cst8 A G 2: 148,646,503 (GRCm39) I78V probably benign Het
Cyld A G 8: 89,459,664 (GRCm39) E440G possibly damaging Het
Cyp2b9 A C 7: 25,887,167 (GRCm39) D192A probably damaging Het
Dclre1b C T 3: 103,711,290 (GRCm39) R207H probably damaging Het
Dnah6 A T 6: 73,100,838 (GRCm39) F1936L probably damaging Het
Dpp9 A C 17: 56,496,424 (GRCm39) Y761* probably null Het
Drc1 A T 5: 30,513,745 (GRCm39) M434L probably benign Het
Dtx3l A T 16: 35,753,397 (GRCm39) I403N probably damaging Het
Ecpas T A 4: 58,809,401 (GRCm39) K1658* probably null Het
Efcab9 A G 11: 32,477,484 (GRCm39) Y13H probably damaging Het
Efhb T A 17: 53,708,654 (GRCm39) N672I possibly damaging Het
Eif5b T C 1: 38,084,835 (GRCm39) V894A possibly damaging Het
Elovl3 T C 19: 46,123,135 (GRCm39) F237S probably benign Het
Emc1 T A 4: 139,093,802 (GRCm39) D637E probably damaging Het
Erbb2 C A 11: 98,324,238 (GRCm39) P742Q probably damaging Het
Fam234b C A 6: 135,210,355 (GRCm39) L584M probably damaging Het
Fancd2 A T 6: 113,545,673 (GRCm39) D14V possibly damaging Het
Fat2 T C 11: 55,153,646 (GRCm39) H3522R probably benign Het
Fgfr2 T C 7: 129,842,945 (GRCm39) N147D possibly damaging Het
Gm26657 A G 4: 56,741,180 (GRCm39) probably benign Het
Hcrtr1 C T 4: 130,029,518 (GRCm39) V188M probably benign Het
Herc1 T C 9: 66,375,169 (GRCm39) V3331A probably damaging Het
Hmcn2 T C 2: 31,320,453 (GRCm39) V3978A possibly damaging Het
Invs G A 4: 48,385,262 (GRCm39) R202K probably benign Het
Lgr5 C T 10: 115,314,469 (GRCm39) S156N probably benign Het
Mras T G 9: 99,276,669 (GRCm39) D67A probably damaging Het
Mrpl39 A G 16: 84,520,790 (GRCm39) L283P probably damaging Het
Ncoa6 A T 2: 155,275,915 (GRCm39) I110N probably benign Het
Neb T C 2: 52,102,596 (GRCm39) D544G possibly damaging Het
Nlrc3 A G 16: 3,782,617 (GRCm39) I264T possibly damaging Het
Or10a2 T A 7: 106,673,080 (GRCm39) M15K probably benign Het
Or1j13 A G 2: 36,369,309 (GRCm39) Y278H probably damaging Het
Or5k16 T C 16: 58,736,248 (GRCm39) Y252C possibly damaging Het
Or7g18 A G 9: 18,787,442 (GRCm39) K273R probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf11d T C 14: 59,590,120 (GRCm39) D234G probably null Het
Polq A T 16: 36,903,146 (GRCm39) D1980V probably damaging Het
Rasa1 A T 13: 85,437,022 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23a A G 12: 59,053,791 (GRCm39) V69A probably benign Het
Sipa1 A G 19: 5,709,640 (GRCm39) I260T probably damaging Het
Smarcc1 T A 9: 110,020,017 (GRCm39) L628H probably damaging Het
Snx31 A G 15: 36,525,730 (GRCm39) V323A probably damaging Het
Sun2 A G 15: 79,611,723 (GRCm39) S565P probably damaging Het
Tmem74 C T 15: 43,730,564 (GRCm39) D160N possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Trp53inp1 A G 4: 11,165,305 (GRCm39) T110A probably benign Het
Ttll9 G T 2: 152,826,144 (GRCm39) C118F probably benign Het
Xirp2 A T 2: 67,342,250 (GRCm39) N1497I probably damaging Het
Xpo4 A G 14: 57,875,764 (GRCm39) V123A probably damaging Het
Zfhx4 A T 3: 5,477,485 (GRCm39) T3367S probably damaging Het
Zfp236 T C 18: 82,615,813 (GRCm39) E1782G possibly damaging Het
Zfp35 T A 18: 24,135,973 (GRCm39) C106S possibly damaging Het
Zfpm1 A G 8: 123,062,812 (GRCm39) T624A probably benign Het
Zmiz2 C T 11: 6,347,519 (GRCm39) Q276* probably null Het
Other mutations in Vps4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1484:Vps4b UTSW 1 106,707,712 (GRCm39) missense probably damaging 1.00
R1843:Vps4b UTSW 1 106,706,712 (GRCm39) missense possibly damaging 0.94
R5044:Vps4b UTSW 1 106,724,148 (GRCm39) splice site probably null
R5931:Vps4b UTSW 1 106,705,065 (GRCm39) missense probably benign
R7311:Vps4b UTSW 1 106,719,434 (GRCm39) missense probably damaging 0.99
R7514:Vps4b UTSW 1 106,708,232 (GRCm39) critical splice donor site probably null
R8852:Vps4b UTSW 1 106,710,414 (GRCm39) missense possibly damaging 0.63
R8860:Vps4b UTSW 1 106,710,414 (GRCm39) missense possibly damaging 0.63
R9631:Vps4b UTSW 1 106,707,835 (GRCm39) missense possibly damaging 0.92
Z1177:Vps4b UTSW 1 106,719,430 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TCCAGTTCCCAGAACAGAGC -3'
(R):5'- AATTAAATTCACTCTGTGCCTCCAC -3'

Sequencing Primer
(F):5'- AGTTCCCAGAACAGAGCTTGGC -3'
(R):5'- CACCCCCTTATGTATGTTGGGG -3'
Posted On 2016-09-06