Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00236:Ighv1-36'

306869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-36

Ensembl Gene

ENSMUSG00000094051

Gene Name

immunoglobulin heavy variable 1-36

Synonyms

Gm16715

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL00236

Quality Score

Status

Chromosome

Chromosomal Location

114843508-114843801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114843770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 29 (L29Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100294 (fasta)

Gene Model

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

AlphaFold

A0A075B5V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103513
AA Change: L29Q

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100294
Gene: ENSMUSG00000094051
AA Change: L29Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191862
AA Change: L30Q

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142128
Gene: ENSMUSG00000094051
AA Change: L30Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195265

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh1	A	G	12: 87,490,467 (GRCm39)	V43A	probably damaging	Het
Ankrd17	A	T	5: 90,381,787 (GRCm39)	S2460T	probably damaging	Het
Ap4e1	T	C	2: 126,870,201 (GRCm39)	L176P	probably damaging	Het
Caprin2	A	G	6: 148,744,569 (GRCm39)	I952T	probably damaging	Het
Cdkl4	A	T	17: 80,832,705 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,227,767 (GRCm39)	L156P	probably damaging	Het
Dock9	A	G	14: 121,905,880 (GRCm39)	L90S	probably benign	Het
Efhb	T	C	17: 53,769,481 (GRCm39)	D276G	probably damaging	Het
Ep300	A	G	15: 81,525,619 (GRCm39)	D1481G	unknown	Het
Fam83b	T	C	9: 76,398,260 (GRCm39)	I948V	probably benign	Het
Fbxl5	G	T	5: 43,922,678 (GRCm39)	H247N	probably damaging	Het
Fn1	A	G	1: 71,692,032 (GRCm39)	I37T	probably benign	Het
Hfe	C	T	13: 23,889,835 (GRCm39)		probably benign	Het
Inpp5e	G	T	2: 26,298,533 (GRCm39)	Q23K	probably benign	Het
L3mbtl1	T	C	2: 162,808,983 (GRCm39)	S619P	probably damaging	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Or51s1	T	C	7: 102,558,479 (GRCm39)	H189R	probably damaging	Het
Or5b124	A	T	19: 13,610,903 (GRCm39)	I143F	probably benign	Het
Pard6a	T	C	8: 106,429,446 (GRCm39)	S135P	probably damaging	Het
Prss43	G	T	9: 110,658,538 (GRCm39)	Q279H	probably benign	Het
Ptcd2	T	C	13: 99,466,573 (GRCm39)	N207D	probably benign	Het
Ros1	T	C	10: 52,070,986 (GRCm39)	I23V	probably benign	Het
Scg5	A	G	2: 113,657,915 (GRCm39)		probably benign	Het
Sh3bp5	T	A	14: 31,101,347 (GRCm39)	K212*	probably null	Het
Slc25a30	C	T	14: 76,004,365 (GRCm39)	G244D	possibly damaging	Het
Slc38a10	T	C	11: 119,997,428 (GRCm39)	R689G	probably damaging	Het
Spatc1	A	G	15: 76,168,994 (GRCm39)	D321G	probably damaging	Het
Stat4	A	T	1: 52,142,037 (GRCm39)	Y628F	probably damaging	Het
Wdr35	G	A	12: 9,069,900 (GRCm39)	V813I	probably benign	Het

Other mutations in Ighv1-36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8361:Ighv1-36	UTSW	12	114,843,627 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2015-04-16