Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01676:Ighv1-74'

103626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-74

Ensembl Gene

ENSMUSG00000094124

Gene Name

immunoglobulin heavy variable V1-74

Synonyms

Gm16710

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL01676

Quality Score

Status

Chromosome

Chromosomal Location

115766310-115766700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115766323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 98 (Y98C)

Ref Sequence

ENSEMBL: ENSMUSP00000100324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103543] [ENSMUST00000196587]

AlphaFold

A0A075B5Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103543
AA Change: Y98C

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100324
Gene: ENSMUSG00000094124
AA Change: Y98C

Domain	Start	End	E-Value	Type
IGv	35	116	1.86e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196587
AA Change: Y99C

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143597
Gene: ENSMUSG00000094124
AA Change: Y99C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	7.9e-33	SMART

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
Acsm4	A	T	7: 119,307,866 (GRCm39)	R334S	probably benign	Het
Adamts3	A	T	5: 89,825,613 (GRCm39)	F1075L	probably benign	Het
Adamts3	A	G	5: 90,029,402 (GRCm39)	V30A	possibly damaging	Het
Bpifb5	A	G	2: 154,070,969 (GRCm39)	N223D	possibly damaging	Het
Cacna1e	T	C	1: 154,274,222 (GRCm39)	R2228G	probably damaging	Het
Cacna1e	T	C	1: 154,288,196 (GRCm39)	E1894G	probably damaging	Het
Calr4	A	G	4: 109,101,447 (GRCm39)	K110E	probably damaging	Het
Catsperz	G	T	19: 6,902,421 (GRCm39)	Y24*	probably null	Het
Clec9a	T	G	6: 129,398,118 (GRCm39)	S219A	probably benign	Het
Csrnp3	T	A	2: 65,779,336 (GRCm39)	I16N	probably damaging	Het
Ddx19a	A	G	8: 111,707,621 (GRCm39)		probably null	Het
Diaph1	G	A	18: 37,989,241 (GRCm39)	Q905*	probably null	Het
Dnah10	T	C	5: 124,880,392 (GRCm39)	M2743T	possibly damaging	Het
Ears2	A	T	7: 121,643,781 (GRCm39)	D392E	probably benign	Het
Fsip1	T	C	2: 118,070,865 (GRCm39)		probably benign	Het
Igsf10	T	C	3: 59,233,432 (GRCm39)	K1767R	probably benign	Het
Igsf10	C	T	3: 59,236,756 (GRCm39)	A1142T	probably benign	Het
Lpar6	A	G	14: 73,477,010 (GRCm39)	N324D	probably benign	Het
Lrit1	T	A	14: 36,779,394 (GRCm39)	L109Q	probably damaging	Het
Nlrp4f	A	T	13: 65,342,933 (GRCm39)	D237E	possibly damaging	Het
Oas1h	G	T	5: 121,009,897 (GRCm39)	G324V	probably damaging	Het
Pak1	T	G	7: 97,532,738 (GRCm39)	D179E	probably benign	Het
Prop1	T	A	11: 50,842,956 (GRCm39)	Q77L	probably damaging	Het
Scn10a	A	T	9: 119,501,231 (GRCm39)	Y184*	probably null	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Trim67	A	T	8: 125,541,899 (GRCm39)	I366F	possibly damaging	Het
Vmn2r94	T	G	17: 18,477,272 (GRCm39)	M380L	probably benign	Het
Vmn2r-ps158	A	G	7: 42,674,133 (GRCm39)	N397S	probably damaging	Het
Zfand3	T	G	17: 30,354,337 (GRCm39)	S51R	possibly damaging	Het
Zfp36l3	T	C	X: 52,777,624 (GRCm39)	S197G	probably benign	Het

Other mutations in Ighv1-74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4597:Ighv1-74	UTSW	12	115,766,276 (GRCm39)	missense	probably damaging	1.00
R5104:Ighv1-74	UTSW	12	115,766,507 (GRCm39)	missense	possibly damaging	0.94
R5309:Ighv1-74	UTSW	12	115,766,501 (GRCm39)	missense	probably damaging	0.98
R5312:Ighv1-74	UTSW	12	115,766,501 (GRCm39)	missense	probably damaging	0.98
R5956:Ighv1-74	UTSW	12	115,766,455 (GRCm39)	missense	probably damaging	1.00
R6988:Ighv1-74	UTSW	12	115,766,383 (GRCm39)	missense	probably damaging	1.00
R7260:Ighv1-74	UTSW	12	115,766,372 (GRCm39)	missense	probably benign	0.37
R7911:Ighv1-74	UTSW	12	115,766,410 (GRCm39)	missense	probably damaging	1.00
R8784:Ighv1-74	UTSW	12	115,766,480 (GRCm39)	missense	probably benign	0.22
R9081:Ighv1-74	UTSW	12	115,766,454 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21