Incidental Mutation 'V5622:Hvcn1'
ID 262461
Institutional Source Beutler Lab
Gene Symbol Hvcn1
Ensembl Gene ENSMUSG00000064267
Gene Name hydrogen voltage-gated channel 1
Synonyms 0610039P13Rik, BTS, mVSOP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # V5622 () of strain 521
Quality Score 119
Status Not validated
Chromosome 5
Chromosomal Location 122344872-122380360 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) TGAGGAGGAGGAGGAGGAG to TGAGGAGGAGGAGGAG at 122371602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072602] [ENSMUST00000100747] [ENSMUST00000111738] [ENSMUST00000143560] [ENSMUST00000145854] [ENSMUST00000196187]
AlphaFold Q3U2S8
Predicted Effect probably benign
Transcript: ENSMUST00000072602
SMART Domains Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
Pfam:Ion_trans 94 226 1.2e-9 PFAM
Pfam:VGPC1_C 222 269 1.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100747
SMART Domains Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
low complexity region 104 120 N/A INTRINSIC
Pfam:Ion_trans 137 226 2.9e-7 PFAM
low complexity region 255 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111738
SMART Domains Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Pfam:DUF1619 82 395 8.4e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143560
SMART Domains Protein: ENSMUSP00000118013
Gene: ENSMUSG00000064267

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
PDB:3WKV|A 73 157 9e-33 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000145854
Predicted Effect probably benign
Transcript: ENSMUST00000196187
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a gene trap allele lack neutrophil and macrophage voltage-gated proton pumps. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 9 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C T 4: 148,026,233 (GRCm39) S251F probably benign Het
Ccar2 G T 14: 70,388,738 (GRCm39) L158I probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Homo
Hspg2 C A 4: 137,261,049 (GRCm39) Q1648K probably damaging Het
Megf11 C A 9: 64,597,351 (GRCm39) C674* probably null Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Zbtb12 C A 17: 35,115,277 (GRCm39) A354E possibly damaging Het
Other mutations in Hvcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Hvcn1 APN 5 122,376,534 (GRCm39) missense probably benign 0.00
IGL01383:Hvcn1 APN 5 122,375,766 (GRCm39) missense probably damaging 0.99
R0515:Hvcn1 UTSW 5 122,371,582 (GRCm39) missense probably damaging 1.00
R0523:Hvcn1 UTSW 5 122,354,428 (GRCm39) critical splice donor site probably null
R5068:Hvcn1 UTSW 5 122,371,544 (GRCm39) missense probably damaging 1.00
R5438:Hvcn1 UTSW 5 122,376,527 (GRCm39) missense probably damaging 1.00
R7178:Hvcn1 UTSW 5 122,371,573 (GRCm39) missense probably damaging 1.00
R7404:Hvcn1 UTSW 5 122,375,748 (GRCm39) missense probably damaging 1.00
R7634:Hvcn1 UTSW 5 122,371,586 (GRCm39) missense probably damaging 1.00
R7879:Hvcn1 UTSW 5 122,376,701 (GRCm39) critical splice donor site probably null
V5622:Hvcn1 UTSW 5 122,371,602 (GRCm39) intron probably benign
Predicted Primers
Posted On 2015-02-04