Incidental Mutation 'IGL00672:Hvcn1'
ID 11380
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00672
Quality Score
Status
Chromosome 5
Chromosomal Location 122344872-122380360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122376534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 155 (F155L)
Ref Sequence ENSEMBL: ENSMUSP00000118013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072602] [ENSMUST00000100747] [ENSMUST00000111738] [ENSMUST00000141281] [ENSMUST00000143560] [ENSMUST00000145854] [ENSMUST00000196187]
AlphaFold Q3U2S8
Predicted Effect probably benign
Transcript: ENSMUST00000072602
AA Change: F155L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267
AA Change: F155L

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
AA Change: F155L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267
AA Change: F155L

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: ENSMUST00000141281
SMART Domains Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Pfam:DUF1619 82 384 1.5e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143560
AA Change: F155L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118013
Gene: ENSMUSG00000064267
AA Change: F155L

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,657,736 (GRCm39) probably benign Het
Adamts20 A G 15: 94,238,986 (GRCm39) I744T probably damaging Het
Akap11 G A 14: 78,748,781 (GRCm39) A1202V probably damaging Het
C130032M10Rik A G 9: 114,344,898 (GRCm39) V340A probably damaging Het
Csnk1g1 G T 9: 65,915,028 (GRCm39) S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 (GRCm39) S410G probably benign Het
Eif2s2 T A 2: 154,729,629 (GRCm39) I98L probably benign Het
En1 T C 1: 120,534,667 (GRCm39) F319L unknown Het
Fmnl3 A T 15: 99,223,562 (GRCm39) Y345N probably damaging Het
Fras1 T C 5: 96,907,309 (GRCm39) probably benign Het
Gm12695 A G 4: 96,637,419 (GRCm39) L366P probably damaging Het
Golga3 T C 5: 110,360,110 (GRCm39) L1156S probably damaging Het
Gpcpd1 G T 2: 132,372,468 (GRCm39) probably benign Het
Jcad T C 18: 4,674,835 (GRCm39) S866P possibly damaging Het
Kdm4c A G 4: 74,261,751 (GRCm39) N642S probably benign Het
Kif2c T C 4: 117,035,443 (GRCm39) I2V probably benign Het
Klri2 T A 6: 129,710,034 (GRCm39) I189F probably damaging Het
Lair1 T A 7: 4,031,730 (GRCm39) T126S probably benign Het
Lins1 A T 7: 66,364,279 (GRCm39) K725* probably null Het
Lman2l T A 1: 36,477,915 (GRCm39) probably null Het
Map3k10 T C 7: 27,361,026 (GRCm39) K496E probably damaging Het
Nr2f2 A G 7: 70,007,514 (GRCm39) S170P possibly damaging Het
Polr1b G A 2: 128,967,392 (GRCm39) M928I probably damaging Het
Rffl G A 11: 82,709,310 (GRCm39) P38S probably damaging Het
Rtl1 T C 12: 109,559,434 (GRCm39) S802G probably benign Het
Sema5a A G 15: 32,619,026 (GRCm39) E518G probably benign Het
Smdt1 G A 15: 82,230,384 (GRCm39) V34I possibly damaging Het
Ssr3 C A 3: 65,298,831 (GRCm39) A59S probably benign Het
Stk4 A G 2: 163,959,999 (GRCm39) K59E probably benign Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Taf5 A T 19: 47,070,740 (GRCm39) D723V probably damaging Het
Tescl T C 7: 24,033,035 (GRCm39) T97A probably benign Het
Thada A T 17: 84,751,646 (GRCm39) S443R probably benign Het
Trp53bp2 A T 1: 182,268,541 (GRCm39) H205L probably benign Het
Ube4b A G 4: 149,465,823 (GRCm39) V209A probably benign Het
Zfp957 G T 14: 79,450,838 (GRCm39) D320E unknown Het
Zfr2 T C 10: 81,077,919 (GRCm39) S249P probably damaging Het
Zmpste24 A G 4: 120,923,057 (GRCm39) I386T probably damaging Het
Other mutations in Hvcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
V5622:Hvcn1 UTSW 5 122,371,602 (GRCm39) intron probably benign
Posted On 2012-12-06