Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Hvcn1'

574409

Institutional Source

Beutler Lab

Gene Symbol

Hvcn1

Ensembl Gene

ENSMUSG00000064267

Gene Name

hydrogen voltage-gated channel 1

Synonyms

0610039P13Rik, BTS, mVSOP

MMRRC Submission

045486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R7404 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

122344872-122380360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122375748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 100 (I100N)

Ref Sequence

ENSEMBL: ENSMUSP00000072401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072602] [ENSMUST00000100747] [ENSMUST00000111738] [ENSMUST00000141281] [ENSMUST00000143560] [ENSMUST00000145854] [ENSMUST00000196187]

AlphaFold

Q3U2S8

PDB Structure

Crystal Structure of a parallel coiled-coil dimerization domain from the voltage-gated proton channel [X-RAY DIFFRACTION]
Crystal Structure of a parallel coiled-coil dimerization domain from the voltage-gated proton channel (REDUCTION/DTT) [X-RAY DIFFRACTION]
Crystal Structure of a parallel coiled-coil dimerization domain from the voltage-gated proton channel (oxidation/H2O2) [X-RAY DIFFRACTION]
Crystal Structure of a parallel coiled-coil dimerization domain from the voltage-gated proton channel (mutation/C245S) [X-RAY DIFFRACTION]
Crystal Structure of a trimeric coiled-coil (I/I-type) assembly domain from the voltage-gated proton channel mutant [X-RAY DIFFRACTION]
Voltage-gated proton channel: VSOP/Hv1 chimeric channel [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072602
AA Change: I100N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267
AA Change: I100N

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 damaging
Transcript: ENSMUST00000100747
AA Change: I100N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267
AA Change: I100N

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 damaging
Transcript: ENSMUST00000143560
AA Change: I100N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118013
Gene: ENSMUSG00000064267
AA Change: I100N

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 damaging
Transcript: ENSMUST00000196187
AA Change: I9N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.1781

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,955,099 (GRCm39)	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,275,118 (GRCm39)	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,533,793 (GRCm39)	R43G	unknown	Het
Asah2	T	C	19: 32,035,254 (GRCm39)	T24A	probably benign	Het
Asb17	G	A	3: 153,550,447 (GRCm39)		probably null	Het
Atp8b5	C	T	4: 43,342,640 (GRCm39)	T437I	probably benign	Het
Bbs2	T	C	8: 94,808,992 (GRCm39)	D311G	probably damaging	Het
Birc6	C	T	17: 74,946,789 (GRCm39)	T2851I	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cchcr1	T	C	17: 35,835,693 (GRCm39)	W266R	probably benign	Het
Col14a1	C	A	15: 55,252,024 (GRCm39)	S560*	probably null	Het
Crocc	G	A	4: 140,753,497 (GRCm39)	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,352,278 (GRCm39)	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,923,635 (GRCm39)	D336V	probably damaging	Het
Dapk1	A	G	13: 60,867,455 (GRCm39)	T221A	probably benign	Het
Dnah11	G	T	12: 118,068,543 (GRCm39)	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,705,223 (GRCm39)	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,035,529 (GRCm39)	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,770,872 (GRCm39)	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,498,524 (GRCm39)	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,049,083 (GRCm39)	K243E	probably damaging	Het
Fcgbp	T	A	7: 27,800,932 (GRCm39)	I1326N	probably damaging	Het
Fgfr1	T	C	8: 26,045,566 (GRCm39)	V45A	probably benign	Het
Filip1	T	A	9: 79,727,380 (GRCm39)	E413V	possibly damaging	Het
Frs3	T	C	17: 48,013,651 (GRCm39)		probably null	Het
Fstl4	A	G	11: 53,024,898 (GRCm39)	T257A	probably benign	Het
Golga5	A	T	12: 102,450,778 (GRCm39)	K477M	probably damaging	Het
Gpr171	A	T	3: 59,005,622 (GRCm39)	I51K	probably damaging	Het
H1f0	T	A	15: 78,913,080 (GRCm39)	Y53*	probably null	Het
Hephl1	A	G	9: 14,981,047 (GRCm39)	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,596,510 (GRCm39)	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,100,168 (GRCm39)	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,534 (GRCm39)	Y255F	probably benign	Het
Hspa9	T	C	18: 35,076,329 (GRCm39)	N328D	possibly damaging	Het
Ifi207	C	T	1: 173,556,494 (GRCm39)	S748N	possibly damaging	Het
Katnip	A	T	7: 125,464,434 (GRCm39)	N1267I	probably damaging	Het
Kcnma1	G	T	14: 24,052,902 (GRCm39)	T180K	unknown	Het
Kctd16	A	G	18: 40,391,826 (GRCm39)	D138G	probably damaging	Het
Kifc3	A	G	8: 95,830,092 (GRCm39)	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,743,376 (GRCm39)	Q3928L	unknown	Het
Lamb2	C	T	9: 108,364,782 (GRCm39)	R1179C	probably damaging	Het
Layn	T	A	9: 50,968,670 (GRCm39)	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,603,452 (GRCm39)	T232M	probably damaging	Het
Lrp1	T	C	10: 127,418,577 (GRCm39)	T38A		Het
Map3k14	A	G	11: 103,129,918 (GRCm39)	V333A	probably benign	Het
Med13	T	C	11: 86,177,272 (GRCm39)	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,911,429 (GRCm39)	S224A	probably benign	Het
Msh6	G	T	17: 88,282,548 (GRCm39)			Het
Ncapd3	A	G	9: 26,978,315 (GRCm39)	D838G	probably benign	Het
Nlrp1a	C	A	11: 70,987,919 (GRCm39)	E1184*	probably null	Het
Npat	T	A	9: 53,466,233 (GRCm39)		probably null	Het
Nup210	A	T	6: 91,050,227 (GRCm39)	I414N	probably benign	Het
Or1e19	A	T	11: 73,316,419 (GRCm39)	L130H	probably damaging	Het
Or52n2	A	T	7: 104,542,181 (GRCm39)	V218E	possibly damaging	Het
Or5b122	T	A	19: 13,562,752 (GRCm39)	I28N	possibly damaging	Het
Or5h19	T	C	16: 58,856,603 (GRCm39)	T166A	possibly damaging	Het
Or6z5	T	C	7: 6,477,163 (GRCm39)	L18P	probably damaging	Het
Or8b12c	A	T	9: 37,715,257 (GRCm39)	T17S	possibly damaging	Het
Or8h7	A	C	2: 86,721,217 (GRCm39)	L101V	probably benign	Het
Otud7b	G	C	3: 96,043,936 (GRCm39)		probably null	Het
Phf11d	A	C	14: 59,596,942 (GRCm39)	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,018,444 (GRCm39)	S964T	probably damaging	Het
Pira1	T	C	7: 3,742,344 (GRCm39)	Y61C	probably damaging	Het
Plod3	G	A	5: 137,023,901 (GRCm39)	V687I	probably benign	Het
Poglut1	T	G	16: 38,358,284 (GRCm39)	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,330,749 (GRCm39)	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Rhbdl3	C	T	11: 80,237,659 (GRCm39)	S297L	probably damaging	Het
Rxra	A	T	2: 27,631,866 (GRCm39)	N179I	probably damaging	Het
Ryr2	C	T	13: 11,750,506 (GRCm39)	E1922K	probably damaging	Het
Scube1	T	C	15: 83,499,211 (GRCm39)	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,358,927 (GRCm39)	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047 (GRCm39)	K92N	probably damaging	Het
Skic3	T	A	13: 76,296,866 (GRCm39)	Y1074*	probably null	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc17a7	T	A	7: 44,822,354 (GRCm39)	Y397N	probably benign	Het
Slc25a3	A	G	10: 90,952,902 (GRCm39)	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,964,283 (GRCm39)	V390E	probably damaging	Het
Sorbs2	G	A	8: 46,212,233 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,621,650 (GRCm39)	N948D	probably benign	Het
Tacc2	A	T	7: 130,225,066 (GRCm39)	T584S	probably benign	Het
Tec	A	T	5: 72,920,961 (GRCm39)	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,898,038 (GRCm39)	A430V	probably benign	Het
Tmcc2	A	T	1: 132,288,759 (GRCm39)	D309E	probably damaging	Het
Tmem82	G	A	4: 141,344,742 (GRCm39)	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,663 (GRCm39)	Q21R	probably damaging	Het
Ubl3	A	G	5: 148,448,764 (GRCm39)	F26L	probably damaging	Het
Upf2	A	G	2: 6,045,014 (GRCm39)	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780 (GRCm39)	I1362F	probably benign	Het
Wnk4	T	A	11: 101,159,318 (GRCm39)		probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,251,153 (GRCm39)	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,226,099 (GRCm39)	V56D	probably damaging	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
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'- CTCTATATGCCTTTTGAGAGTGGC -3'
(R):5'- CTAAACATCTCTGGCCAGGC -3'

Sequencing Primer
(F):5'- ATATGCCTTTTGAGAGTGGCATTTGC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2019-09-13