Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00471:Ighv1-5'

332432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-5

Ensembl Gene

ENSMUSG00000096499

Gene Name

immunoglobulin heavy variable V1-5

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00471

Quality Score

Status

Chromosome

Chromosomal Location

114476950-114477243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114477093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 70 (I70L)

Ref Sequence

ENSEMBL: ENSMUSP00000141537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103494] [ENSMUST00000191803]

AlphaFold

A0A075B5T5

Predicted Effect

probably benign
Transcript: ENSMUST00000103494
AA Change: I51L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100275
Gene: ENSMUSG00000096499
AA Change: I51L

Domain	Start	End	E-Value	Type
IGv	17	98	8.61e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184622

Predicted Effect

probably benign
Transcript: ENSMUST00000191803
AA Change: I70L

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141537
Gene: ENSMUSG00000096499
AA Change: I70L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.5e-28	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,657,661 (GRCm39)	V2793A	probably damaging	Het
Agbl2	A	G	2: 90,631,389 (GRCm39)	Y249C	probably damaging	Het
Anks1	T	C	17: 28,277,390 (GRCm39)	S1082P	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
C4b	T	G	17: 34,953,403 (GRCm39)	T1027P	probably damaging	Het
Clec4d	A	T	6: 123,251,732 (GRCm39)	I205F	probably damaging	Het
Cpeb2	A	T	5: 43,443,174 (GRCm39)	Y955F	probably damaging	Het
Cst13	T	A	2: 148,672,224 (GRCm39)	M133K	probably damaging	Het
Dnah10	T	C	5: 124,871,405 (GRCm39)	L2418P	probably damaging	Het
Gli3	T	C	13: 15,898,354 (GRCm39)		probably null	Het
Hgfac	C	A	5: 35,203,870 (GRCm39)	H463N	probably damaging	Het
Hlx	A	T	1: 184,463,792 (GRCm39)	F183I	probably damaging	Het
Ltbp2	T	C	12: 84,837,838 (GRCm39)	T1181A	probably damaging	Het
Morn1	A	C	4: 155,176,785 (GRCm39)	K140Q	possibly damaging	Het
Nek1	A	T	8: 61,496,318 (GRCm39)	M358L	probably benign	Het
Pcbd2	C	T	13: 55,924,413 (GRCm39)		probably benign	Het
Pramel7	A	T	2: 87,321,429 (GRCm39)	L202Q	probably damaging	Het
Shq1	A	G	6: 100,641,444 (GRCm39)	S146P	probably benign	Het
Slc25a21	T	C	12: 56,764,922 (GRCm39)		probably null	Het
Slc26a7	A	T	4: 14,548,403 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,475,147 (GRCm39)		probably benign	Het
Stam2	T	C	2: 52,610,947 (GRCm39)	D25G	probably damaging	Het
Tbx18	A	T	9: 87,587,676 (GRCm39)	D480E	possibly damaging	Het
Tmem26	A	T	10: 68,614,511 (GRCm39)	I309F	possibly damaging	Het
Ube2c	A	G	2: 164,613,213 (GRCm39)	T44A	probably benign	Het

Other mutations in Ighv1-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4768:Ighv1-5	UTSW	12	114,477,143 (GRCm39)	missense	probably damaging	0.98
R7497:Ighv1-5	UTSW	12	114,477,156 (GRCm39)	missense	probably damaging	0.99
R9361:Ighv1-5	UTSW	12	114,476,985 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-08-05