Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02277:Ighv2-5'

287367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv2-5

Ensembl Gene

ENSMUSG00000096498

Gene Name

immunoglobulin heavy variable 2-5

Synonyms

Gm16593

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

IGL02277

Quality Score

Status

Chromosome

Chromosomal Location

113649102-113649394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113649127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 109 (T109S)

Ref Sequence

ENSEMBL: ENSMUSP00000142302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103449] [ENSMUST00000195707]

AlphaFold

A0A075B5Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103449
AA Change: T108S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100230
Gene: ENSMUSG00000096498
AA Change: T108S

Domain	Start	End	E-Value	Type
IGv	35	115	4.51e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193425

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195707
AA Change: T109S

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142302
Gene: ENSMUSG00000096498
AA Change: T109S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	116	1.8e-31	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	T	9: 57,165,708 (GRCm39)	G222D	probably benign	Het
Abcc6	T	C	7: 45,650,485 (GRCm39)	D625G	probably benign	Het
Akr1c12	C	T	13: 4,322,268 (GRCm39)	R258Q	probably damaging	Het
Akr1c20	T	A	13: 4,564,404 (GRCm39)	E36D	probably benign	Het
Csn2	A	G	5: 87,845,881 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,497,176 (GRCm39)	I1084V	possibly damaging	Het
Dlg1	A	G	16: 31,609,082 (GRCm39)	I259V	probably damaging	Het
Dpysl5	A	G	5: 30,946,125 (GRCm39)	I344V	probably damaging	Het
Fcrl6	A	G	1: 172,426,686 (GRCm39)	C87R	probably damaging	Het
Fras1	A	G	5: 96,735,977 (GRCm39)	E524G	probably benign	Het
Gabpb2	A	G	3: 95,096,595 (GRCm39)	V270A	probably benign	Het
Gm5591	T	A	7: 38,218,462 (GRCm39)	I804F	possibly damaging	Het
Gm5591	T	C	7: 38,219,856 (GRCm39)	D339G	probably damaging	Het
Ints4	T	A	7: 97,136,665 (GRCm39)	L119Q	probably damaging	Het
Kansl3	A	T	1: 36,388,028 (GRCm39)	D386E	possibly damaging	Het
Kdm3b	A	T	18: 34,956,717 (GRCm39)	H1224L	probably damaging	Het
Macf1	C	A	4: 123,380,497 (GRCm39)	R1523L	probably damaging	Het
Myo1f	A	G	17: 33,798,835 (GRCm39)		probably null	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Or1q1	G	A	2: 36,887,196 (GRCm39)		probably null	Het
Or2y8	T	A	11: 52,036,189 (GRCm39)	H56L	probably damaging	Het
Or4f56	T	A	2: 111,703,925 (GRCm39)	I92F	possibly damaging	Het
Plxnb1	T	A	9: 108,941,201 (GRCm39)	L1660Q	probably damaging	Het
Ppp1r17	A	G	6: 56,003,123 (GRCm39)	D71G	probably damaging	Het
Ptprt	T	C	2: 161,389,301 (GRCm39)	Q1264R	probably damaging	Het
Rgl3	C	T	9: 21,885,405 (GRCm39)	V642M	probably damaging	Het
Slc26a2	T	C	18: 61,332,052 (GRCm39)	T460A	probably damaging	Het
Smtnl2	T	A	11: 72,282,199 (GRCm39)	M395L	probably damaging	Het
St3gal5	A	T	6: 72,119,184 (GRCm39)	T99S	possibly damaging	Het
Unc5b	T	C	10: 60,610,521 (GRCm39)	N421S	probably benign	Het
Zcchc17	G	A	4: 130,221,014 (GRCm39)	T179M	probably benign	Het
Zfp369	T	C	13: 65,432,746 (GRCm39)	S79P	probably damaging	Het

Other mutations in Ighv2-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4514:Ighv2-5	UTSW	12	113,649,216 (GRCm39)	missense	possibly damaging	0.94
R5393:Ighv2-5	UTSW	12	113,649,502 (GRCm39)	missense	possibly damaging	0.60
R6056:Ighv2-5	UTSW	12	113,649,120 (GRCm39)	missense	probably benign	0.00
R7139:Ighv2-5	UTSW	12	113,649,219 (GRCm39)	missense	probably benign	0.19
R7622:Ighv2-5	UTSW	12	113,649,358 (GRCm39)	nonsense	probably null
R9613:Ighv2-5	UTSW	12	113,649,189 (GRCm39)	missense

Posted On

2015-04-16