Incidental Mutation 'IGL01383:Hvcn1'
ID 78953
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 # IGL01383
Quality Score
Status
Chromosome 5
Chromosomal Location 122344872-122380360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122375766 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3U2S8
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 (GRCm38) probably null Het
Abca9 A C 11: 110,004,119 (GRCm39) probably benign Het
Aox1 T A 1: 58,333,464 (GRCm39) M227K probably benign Het
Asb5 T A 8: 55,003,544 (GRCm39) L22H probably damaging Het
Atrx T C X: 104,845,681 (GRCm39) D2309G probably damaging Het
Cand1 T A 10: 119,044,072 (GRCm39) T1074S probably damaging Het
Cep97 T C 16: 55,731,970 (GRCm39) E534G probably damaging Het
Cftr C A 6: 18,226,040 (GRCm39) N329K probably benign Het
Clec7a T C 6: 129,449,603 (GRCm39) T16A probably damaging Het
Col1a1 G A 11: 94,836,351 (GRCm39) R674H probably damaging Het
Csf2rb2 T C 15: 78,181,243 (GRCm39) S50G possibly damaging Het
Eepd1 A G 9: 25,393,778 (GRCm39) D14G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Grin1 C A 2: 25,186,979 (GRCm39) R694L possibly damaging Het
Gtf3c1 A G 7: 125,298,672 (GRCm39) I151T probably damaging Het
Havcr2 T C 11: 46,360,375 (GRCm39) S152P probably damaging Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Map3k10 C T 7: 27,357,424 (GRCm39) V785M probably benign Het
Mis18bp1 T C 12: 65,195,763 (GRCm39) N667S probably benign Het
Mup3 A C 4: 62,004,196 (GRCm39) Y106D probably damaging Het
Mypn G T 10: 62,971,576 (GRCm39) N821K probably damaging Het
Odad1 T C 7: 45,589,124 (GRCm39) S179P probably damaging Het
Or2y1c T A 11: 49,361,880 (GRCm39) W301R probably benign Het
Or52b4 A G 7: 102,184,140 (GRCm39) Y62C probably benign Het
Or5ac25 A T 16: 59,182,316 (GRCm39) N88K probably benign Het
Or5i1 A G 2: 87,613,217 (GRCm39) D111G possibly damaging Het
Pcdhb10 A T 18: 37,546,328 (GRCm39) H468L probably benign Het
Pramel27 T G 4: 143,573,102 (GRCm39) probably benign Het
Prp2 C A 6: 132,576,841 (GRCm39) P43T unknown Het
Psg26 A G 7: 18,214,179 (GRCm39) V161A possibly damaging Het
Rab17 T G 1: 90,887,815 (GRCm39) D115A probably damaging Het
Rrp1b T C 17: 32,277,552 (GRCm39) F611L probably damaging Het
Skor1 T A 9: 63,053,838 (GRCm39) T44S probably benign Het
Spaca5 T C X: 20,934,725 (GRCm39) probably benign Het
Tatdn3 G A 1: 190,787,578 (GRCm39) probably benign Het
Tbk1 T C 10: 121,412,184 (GRCm39) D118G probably damaging Het
Tnfsf13b T C 8: 10,081,528 (GRCm39) F230S probably damaging Het
Tnrc6c T C 11: 117,605,083 (GRCm39) S73P probably benign Het
Vmn2r109 A G 17: 20,761,383 (GRCm39) V658A possibly damaging Het
Vmn2r116 C T 17: 23,620,575 (GRCm39) L770F probably damaging Het
Wwp2 T A 8: 108,259,923 (GRCm39) probably null Het
Other mutations in Hvcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Hvcn1 APN 5 122,376,534 (GRCm39) missense probably benign 0.00
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 2013-11-05