Mutagenetix > Incidental Mutation

Incidental Mutation 'R2443:Ighv8-5'

476282

Institutional Source

Beutler Lab

Gene Symbol

Ighv8-5

Ensembl Gene

ENSMUSG00000102364

Gene Name

immunoglobulin heavy variable V8-5

Synonyms

MMRRC Submission

040401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R2443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115031180-115031480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115031440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 33 (P33L)

Ref Sequence

ENSEMBL: ENSMUSP00000142292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000194257]

AlphaFold

A0A0A6YY60

Predicted Effect

probably damaging
Transcript: ENSMUST00000194257
AA Change: P33L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142292
Gene: ENSMUSG00000102364
AA Change: P33L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	118	8.6e-31	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc13	C	T	9: 102,511,222 (GRCm39)	P37S	probably damaging	Het
Asxl3	T	A	18: 22,544,596 (GRCm39)	D39E	probably benign	Het
Cfap91	A	G	16: 38,123,094 (GRCm39)	Y645H	probably damaging	Het
Clec4d	G	A	6: 123,245,076 (GRCm39)	V119M	probably benign	Het
Dennd11	T	C	6: 40,383,710 (GRCm39)	D444G	probably damaging	Het
Dlx2	A	G	2: 71,376,349 (GRCm39)	S130P	probably benign	Het
Dync2li1	C	A	17: 84,955,093 (GRCm39)	Q251K	probably benign	Het
Edem1	A	T	6: 108,828,230 (GRCm39)	K518N	probably benign	Het
Elapor1	A	T	3: 108,388,665 (GRCm39)	N239K	probably damaging	Het
Fbln2	T	C	6: 91,236,693 (GRCm39)	V736A	probably damaging	Het
Fga	A	G	3: 82,935,848 (GRCm39)	K25R	probably benign	Het
Hmcn1	C	A	1: 150,474,783 (GRCm39)	R4701S	probably benign	Het
Kcnip3	T	A	2: 127,301,983 (GRCm39)	I194F	probably damaging	Het
Kif26b	A	C	1: 178,742,579 (GRCm39)	I892L	probably damaging	Het
Krt78	C	T	15: 101,855,033 (GRCm39)	G926E	probably damaging	Het
Map1b	T	C	13: 99,566,919 (GRCm39)	Y1934C	unknown	Het
Masp1	A	T	16: 23,295,062 (GRCm39)	Y400N	probably damaging	Het
Methig1	T	C	15: 100,251,092 (GRCm39)	M1T	probably null	Het
Mmp19	A	G	10: 128,634,725 (GRCm39)	E447G	possibly damaging	Het
Ms4a6d	G	A	19: 11,567,557 (GRCm39)	H115Y	possibly damaging	Het
Myo1e	C	T	9: 70,234,454 (GRCm39)	S269L	probably benign	Het
Myo7a	G	A	7: 97,744,976 (GRCm39)	T288I	probably benign	Het
Npy5r	T	A	8: 67,133,942 (GRCm39)	K284*	probably null	Het
Oas3	C	A	5: 120,915,553 (GRCm39)	R46L	probably benign	Het
Or5l14	A	T	2: 87,793,209 (GRCm39)	V9E	possibly damaging	Het
Pkd1l3	T	A	8: 110,350,447 (GRCm39)	S431T	probably benign	Het
Pnpla2	T	C	7: 141,037,982 (GRCm39)	V184A	possibly damaging	Het
Pomt2	C	A	12: 87,180,154 (GRCm39)	K282N	probably damaging	Het
Psmd12	T	A	11: 107,386,563 (GRCm39)	M378K	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Strn3	A	T	12: 51,674,618 (GRCm39)	Y389N	probably damaging	Het
Tdrd1	C	T	19: 56,829,786 (GRCm39)	A220V	probably null	Het
Tecpr2	T	G	12: 110,862,759 (GRCm39)	L57R	probably damaging	Het
Tkfc	A	G	19: 10,571,902 (GRCm39)	L378P	probably damaging	Het
Tmprss2	T	G	16: 97,369,703 (GRCm39)	D357A	possibly damaging	Het
Tollip	C	T	7: 141,444,560 (GRCm39)	W64*	probably null	Het
Vcan	A	G	13: 89,852,794 (GRCm39)	F722S	probably damaging	Het
Vcp	A	T	4: 42,983,385 (GRCm39)	N558K	probably damaging	Het
Vmn1r232	A	G	17: 21,133,646 (GRCm39)	I318T	probably damaging	Het
Vmn1r33	A	T	6: 66,588,957 (GRCm39)	I199K	possibly damaging	Het
Zfp61	A	G	7: 23,991,194 (GRCm39)	V319A	probably benign	Het
Zfyve28	A	G	5: 34,374,238 (GRCm39)	V592A	possibly damaging	Het

Other mutations in Ighv8-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Ighv8-5	APN	12	115,031,194 (GRCm39)	missense	probably damaging	1.00
R0039:Ighv8-5	UTSW	12	115,031,207 (GRCm39)	missense	possibly damaging	0.49
R4910:Ighv8-5	UTSW	12	115,031,462 (GRCm39)	missense	probably damaging	1.00
R7827:Ighv8-5	UTSW	12	115,031,258 (GRCm39)	missense	possibly damaging	0.78
R8464:Ighv8-5	UTSW	12	115,031,309 (GRCm39)	missense	probably benign	0.00
R8477:Ighv8-5	UTSW	12	115,031,200 (GRCm39)	missense	probably benign	0.02
R8823:Ighv8-5	UTSW	12	115,031,267 (GRCm39)	missense	probably damaging	1.00
R9655:Ighv8-5	UTSW	12	115,031,416 (GRCm39)	missense	probably damaging	0.96
R9784:Ighv8-5	UTSW	12	115,031,228 (GRCm39)	missense	probably benign	0.03

Predicted Primers

Posted On

2017-05-11