Incidental Mutation 'V5622:Hvcn1'
| ID |
500357 |
| 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: 0.121)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 94.1%
- 3x: 94.1%
- 10x: 94.0%
- 20x: 93.9%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 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 |
Het |
| Gm10719 |
A |
G |
9: 3,021,253 (GRCm39) |
|
probably null |
Het |
| Gm10720 |
A |
C |
9: 3,015,669 (GRCm39) |
N6H |
probably benign |
Het |
| Gm21738 |
C |
T |
14: 19,417,180 (GRCm38) |
C116Y |
probably damaging |
Het |
| Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
A |
G |
1: 88,205,247 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,261,049 (GRCm39) |
Q1648K |
probably damaging |
Het |
| Megf11 |
C |
A |
9: 64,597,351 (GRCm39) |
C674* |
probably null |
Het |
| Mroh2a |
C |
T |
1: 88,154,813 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,643 (GRCm39) |
S568P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Npm1 |
C |
T |
11: 33,111,186 (GRCm39) |
V60I |
probably benign |
Het |
| Ppp2r5a |
G |
A |
1: 191,091,189 (GRCm39) |
R213W |
probably damaging |
Het |
| Ppp2r5a |
C |
T |
1: 191,091,198 (GRCm39) |
V210I |
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,974,598 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,565,201 (GRCm39) |
S363P |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,333 (GRCm39) |
I602T |
probably benign |
Het |
| Vmn2r117 |
C |
T |
17: 23,696,814 (GRCm39) |
A198T |
probably damaging |
Het |
| Vmn2r117 |
C |
G |
17: 23,698,479 (GRCm39) |
Q31H |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,584 (GRCm39) |
T99S |
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 |
| Zfp180 |
A |
G |
7: 23,781,456 (GRCm39) |
|
probably benign |
Het |
| Zfp268 |
C |
T |
4: 145,311,891 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hvcn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
2017-12-01 |
Incidental Mutation