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)
|
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
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
AA Change: F155L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000098312 Gene: ENSMUSG00000064267 AA Change: F155L
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: ENSMUST00000141281
|
SMART Domains |
Protein: ENSMUSP00000114820 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 |
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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |