Incidental Mutation 'IGL01383:Hvcn1'
ID78953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hvcn1
Ensembl Gene ENSMUSG00000064267
Gene Namehydrogen voltage-gated channel 1
SynonymsBTS, 0610039P13Rik, mVSOP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL01383
Quality Score
Status
Chromosome5
Chromosomal Location122206804-122242297 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122237703 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000143483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072602] [ENSMUST00000100747] [ENSMUST00000111738] [ENSMUST00000141281] [ENSMUST00000143560] [ENSMUST00000145854] [ENSMUST00000196187]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072602
AA Change: V106A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267
AA Change: V106A

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 possibly damaging
Transcript: ENSMUST00000100747
AA Change: V106A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267
AA Change: V106A

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 possibly damaging
Transcript: ENSMUST00000143560
AA Change: V106A

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118013
Gene: ENSMUSG00000064267
AA Change: V106A

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 damaging
Transcript: ENSMUST00000196187
AA Change: V15A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik C A 14: 5,051,570 probably null Het
4931409K22Rik A T 5: 24,548,294 N453K probably benign Het
Abca9 A C 11: 110,113,293 probably benign Het
Aox2 T A 1: 58,294,305 M227K probably benign Het
Asb5 T A 8: 54,550,509 L22H probably damaging Het
Atrx T C X: 105,802,075 D2309G probably damaging Het
Cand1 T A 10: 119,208,167 T1074S probably damaging Het
Ccdc114 T C 7: 45,939,700 S179P probably damaging Het
Cep97 T C 16: 55,911,607 E534G probably damaging Het
Cftr C A 6: 18,226,041 N329K probably benign Het
Clec7a T C 6: 129,472,640 T16A probably damaging Het
Col1a1 G A 11: 94,945,525 R674H probably damaging Het
Csf2rb2 T C 15: 78,297,043 S50G possibly damaging Het
Eepd1 A G 9: 25,482,482 D14G probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm13103 T G 4: 143,846,532 probably benign Het
Grin1 C A 2: 25,296,967 R694L possibly damaging Het
Gtf3c1 A G 7: 125,699,500 I151T probably damaging Het
Havcr2 T C 11: 46,469,548 S152P probably damaging Het
Map3k10 C T 7: 27,657,999 V785M probably benign Het
Mis18bp1 T C 12: 65,148,989 N667S probably benign Het
Mup3 A C 4: 62,085,959 Y106D probably damaging Het
Mypn G T 10: 63,135,797 N821K probably damaging Het
Olfr1386 T A 11: 49,471,053 W301R probably benign Het
Olfr152 A G 2: 87,782,873 D111G possibly damaging Het
Olfr209 A T 16: 59,361,953 N88K probably benign Het
Olfr547 A G 7: 102,534,933 Y62C probably benign Het
Pcdhb10 A T 18: 37,413,275 H468L probably benign Het
Prp2 C A 6: 132,599,878 P43T unknown Het
Psg26 A G 7: 18,480,254 V161A possibly damaging Het
Rab17 T G 1: 90,960,093 D115A probably damaging Het
Rrp1b T C 17: 32,058,578 F611L probably damaging Het
Skor1 T A 9: 63,146,556 T44S probably benign Het
Spaca5 T C X: 21,068,486 probably benign Het
Tatdn3 G A 1: 191,055,381 probably benign Het
Tbk1 T C 10: 121,576,279 D118G probably damaging Het
Tnfsf13b T C 8: 10,031,528 F230S probably damaging Het
Tnrc6c T C 11: 117,714,257 S73P probably benign Het
Vmn2r109 A G 17: 20,541,121 V658A possibly damaging Het
Vmn2r116 C T 17: 23,401,601 L770F probably damaging Het
Wwp2 T A 8: 107,533,291 probably null Het
Other mutations in Hvcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Hvcn1 APN 5 122238471 missense probably benign 0.00
R0515:Hvcn1 UTSW 5 122233519 missense probably damaging 1.00
R0523:Hvcn1 UTSW 5 122216365 critical splice donor site probably null
R5068:Hvcn1 UTSW 5 122233481 missense probably damaging 1.00
R5438:Hvcn1 UTSW 5 122238464 missense probably damaging 1.00
R7178:Hvcn1 UTSW 5 122233510 missense probably damaging 1.00
R7404:Hvcn1 UTSW 5 122237685 missense probably damaging 1.00
R7634:Hvcn1 UTSW 5 122233523 missense probably damaging 1.00
R7879:Hvcn1 UTSW 5 122238638 critical splice donor site probably null
R7962:Hvcn1 UTSW 5 122238638 critical splice donor site probably null
V5622:Hvcn1 UTSW 5 122233539 intron probably benign
V5622:Hvcn1 UTSW 5 122233539 intron probably benign
Posted On2013-11-05