Incidental Mutation 'R0515:Hvcn1'
ID 48181
Institutional Source Beutler Lab
Gene Symbol Hvcn1
Ensembl Gene ENSMUSG00000064267
Gene Name hydrogen voltage-gated channel 1
Synonyms 0610039P13Rik, BTS, mVSOP
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R0515 (G1)
Quality Score 176
Status Validated
Chromosome 5
Chromosomal Location 122344872-122380360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122371582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 41 (N41D)
Ref Sequence ENSEMBL: ENSMUSP00000118151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072602] [ENSMUST00000100747] [ENSMUST00000111738] [ENSMUST00000143560] [ENSMUST00000145854] [ENSMUST00000196187]
AlphaFold Q3U2S8
Predicted Effect probably damaging
Transcript: ENSMUST00000072602
AA Change: N41D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267
AA Change: N41D

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 damaging
Transcript: ENSMUST00000100747
AA Change: N41D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267
AA Change: N41D

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 damaging
Transcript: ENSMUST00000143560
AA Change: N41D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118013
Gene: ENSMUSG00000064267
AA Change: N41D

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
PDB:3WKV|A 73 157 9e-33 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000145854
AA Change: N41D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000196187
Meta Mutation Damage Score 0.0731 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Tent5b A T 4: 133,213,450 (GRCm39) H107L possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTGGCCTCTTGTACACCGAGATAC -3'
(R):5'- AAGGTTCTCAGAAAGCGCCTGC -3'

Sequencing Primer
(F):5'- TAGGCTGCTCTCTGAGCAC -3'
(R):5'- ACCTTAGAGACCTGGCGAC -3'
Posted On 2013-06-12