Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01873:Ighv5-2'

178774

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv5-2

Ensembl Gene

ENSMUSG00000076633

Gene Name

immunoglobulin heavy variable 5-2

Synonyms

Gm16969

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01873

Quality Score

Status

Chromosome

Chromosomal Location

113542124-113542610 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113542350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 42 (S42T)

Ref Sequence

ENSEMBL: ENSMUSP00000100223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103442] [ENSMUST00000195468]

AlphaFold

A0A075B5P7

Predicted Effect

probably benign
Transcript: ENSMUST00000103442
AA Change: S42T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100223
Gene: ENSMUSG00000076633
AA Change: S42T

Domain	Start	End	E-Value	Type
IGv	35	116	1.65e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170946

Predicted Effect

probably benign
Transcript: ENSMUST00000195468
AA Change: S43T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141310
Gene: ENSMUSG00000076633
AA Change: S43T

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	6.5e-25	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chd9	A	G	8: 91,660,395 (GRCm39)	T452A	probably benign	Het
Coq8a	T	A	1: 180,006,542 (GRCm39)	Q115L	probably damaging	Het
Cul9	T	C	17: 46,813,378 (GRCm39)	E2326G	probably damaging	Het
Cyp2c69	A	G	19: 39,869,693 (GRCm39)		probably benign	Het
Dennd5b	A	T	6: 148,946,027 (GRCm39)	M528K	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gm6665	T	C	18: 31,953,355 (GRCm39)	S38G	probably damaging	Het
Gsg1l	A	G	7: 125,557,615 (GRCm39)	V171A	probably damaging	Het
Itch	C	T	2: 155,010,670 (GRCm39)	T46I	possibly damaging	Het
Itsn2	T	G	12: 4,682,366 (GRCm39)		probably benign	Het
Lime1	T	C	2: 181,024,667 (GRCm39)	V107A	probably benign	Het
Mertk	T	C	2: 128,571,195 (GRCm39)	S50P	possibly damaging	Het
Myo5b	T	A	18: 74,713,467 (GRCm39)	V104E	probably damaging	Het
Nckap1	A	T	2: 80,383,729 (GRCm39)	I145K	possibly damaging	Het
Ppp4r3a	A	T	12: 101,008,094 (GRCm39)	I794N	possibly damaging	Het
Psapl1	C	A	5: 36,362,569 (GRCm39)	P387Q	possibly damaging	Het
Ripk1	T	A	13: 34,193,707 (GRCm39)	L23Q	probably damaging	Het
Srrm4	G	T	5: 116,729,527 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,437 (GRCm39)	T376S	probably damaging	Het
Tmem74	T	C	15: 43,730,782 (GRCm39)	D87G	probably benign	Het
Trav19	A	G	14: 54,083,173 (GRCm39)	R83G	probably benign	Het
Tubgcp4	T	C	2: 121,018,665 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfat	T	C	15: 68,096,744 (GRCm39)	N23S	probably benign	Het

Other mutations in Ighv5-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Ighv5-2	APN	12	113,542,214 (GRCm39)	missense	probably benign	0.00
IGL03391:Ighv5-2	APN	12	113,542,138 (GRCm39)	nonsense	probably null
R4792:Ighv5-2	UTSW	12	113,542,419 (GRCm39)	missense	possibly damaging	0.55
R6720:Ighv5-2	UTSW	12	113,542,126 (GRCm39)	missense	probably damaging	1.00
R8381:Ighv5-2	UTSW	12	113,542,325 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07