Mutagenetix > Incidental Mutation

Incidental Mutation 'R8361:Ighv1-36'

645966

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-36

Ensembl Gene

ENSMUSG00000094051

Gene Name

immunoglobulin heavy variable 1-36

Synonyms

Gm16715

MMRRC Submission

067735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114843508-114843801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114843627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 78 (S78C)

Ref Sequence

ENSEMBL: ENSMUSP00000142128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103513] [ENSMUST00000191862]

AlphaFold

A0A075B5V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103513
AA Change: S77C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100294
Gene: ENSMUSG00000094051
AA Change: S77C

Domain	Start	End	E-Value	Type
IGv	35	116	2.77e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191862
AA Change: S78C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142128
Gene: ENSMUSG00000094051
AA Change: S78C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.1e-31	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,632,153 (GRCm39)	N161S	possibly damaging	Het
Alg2	T	C	4: 47,471,848 (GRCm39)	Y320C	probably damaging	Het
Aox4	A	T	1: 58,279,998 (GRCm39)	E538V	probably benign	Het
Carmil1	A	C	13: 24,251,113 (GRCm39)		probably null	Het
Chrd	T	C	16: 20,557,487 (GRCm39)	F702S	possibly damaging	Het
Dhx36	A	T	3: 62,388,221 (GRCm39)		probably null	Het
Dnah5	G	T	15: 28,331,956 (GRCm39)	V2181L	probably damaging	Het
Dnajc11	C	A	4: 152,055,368 (GRCm39)	R229S	probably damaging	Het
Eml3	A	G	19: 8,914,801 (GRCm39)	N579D	possibly damaging	Het
Fam163b	G	A	2: 27,002,650 (GRCm39)	R116C	probably benign	Het
Fbxw2	A	G	2: 34,697,426 (GRCm39)	C314R	possibly damaging	Het
Gm4847	T	A	1: 166,469,839 (GRCm39)	H78L	possibly damaging	Het
Gtf2h3	T	C	5: 124,733,731 (GRCm39)	V268A	probably damaging	Het
Hmbox1	T	C	14: 65,134,289 (GRCm39)	S104G	possibly damaging	Het
Lrriq3	G	A	3: 154,806,855 (GRCm39)	W168*	probably null	Het
Mycbp2	A	G	14: 103,376,250 (GRCm39)	F3981S	probably damaging	Het
Or10k2	A	G	8: 84,268,715 (GRCm39)	H314R	possibly damaging	Het
Pias1	T	C	9: 62,826,668 (GRCm39)	T265A	possibly damaging	Het
Rxfp3	C	A	15: 11,036,784 (GRCm39)	R196L	probably benign	Het
Ryr3	A	G	2: 112,483,475 (GRCm39)	S4121P	probably damaging	Het
Safb2	T	C	17: 56,890,061 (GRCm39)	E61G	probably damaging	Het
Sestd1	A	T	2: 77,017,572 (GRCm39)	M665K	probably benign	Het
Slc3a1	C	T	17: 85,344,640 (GRCm39)	R269*	probably null	Het
Smurf1	T	A	5: 144,820,506 (GRCm39)	I521F	probably damaging	Het
Spink5	G	T	18: 44,122,529 (GRCm39)	L331F	probably damaging	Het
Stt3b	A	G	9: 115,083,988 (GRCm39)	I396T	probably damaging	Het
Uso1	A	G	5: 92,337,121 (GRCm39)	D635G	probably null	Het
Usp5	C	T	6: 124,801,948 (GRCm39)	G102D	probably damaging	Het
Zfp616	A	G	11: 73,975,476 (GRCm39)	R582G	probably damaging	Het
Zfp654	T	C	16: 64,612,220 (GRCm39)	H222R	probably damaging	Het

Other mutations in Ighv1-36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Ighv1-36	APN	12	114,843,770 (GRCm39)	missense	possibly damaging	0.90
R5061:Ighv1-36	UTSW	12	114,843,742 (GRCm39)	missense	probably benign	0.07
R5924:Ighv1-36	UTSW	12	114,843,777 (GRCm39)	missense	possibly damaging	0.94
R7017:Ighv1-36	UTSW	12	114,843,533 (GRCm39)	missense	probably damaging	1.00
R7699:Ighv1-36	UTSW	12	114,843,646 (GRCm39)	nonsense	probably null
R8070:Ighv1-36	UTSW	12	114,843,656 (GRCm39)	missense	probably damaging	1.00
R8354:Ighv1-36	UTSW	12	114,843,560 (GRCm39)	missense	probably damaging	0.99
R8454:Ighv1-36	UTSW	12	114,843,560 (GRCm39)	missense	probably damaging	0.99
R8804:Ighv1-36	UTSW	12	114,843,581 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2020-09-02