Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02688:Ighv1-67'

303622

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-67

Ensembl Gene

ENSMUSG00000095863

Gene Name

immunoglobulin heavy variable V1-67

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02688

Quality Score

Status

Chromosome

Chromosomal Location

115567560-115567853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115567643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 90 (T90P)

Ref Sequence

ENSEMBL: ENSMUSP00000143248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103538] [ENSMUST00000198646]

AlphaFold

A0A075B5X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103538
AA Change: T71P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100319
Gene: ENSMUSG00000095863
AA Change: T71P

Domain	Start	End	E-Value	Type
IGv	17	98	1.85e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198646
AA Change: T90P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143248
Gene: ENSMUSG00000095863
AA Change: T90P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	7.5e-28	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	A	8: 41,279,357 (GRCm39)	R583S	probably benign	Het
Bcl9l	C	T	9: 44,416,560 (GRCm39)	T211I	possibly damaging	Het
C6	A	G	15: 4,827,802 (GRCm39)	I724V	probably benign	Het
Cacna2d4	T	A	6: 119,247,710 (GRCm39)		probably null	Het
Casp4	A	G	9: 5,322,844 (GRCm39)	E40G	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Dnah7a	A	C	1: 53,483,631 (GRCm39)	M3382R	possibly damaging	Het
Dst	T	C	1: 34,235,033 (GRCm39)	L3526P	probably damaging	Het
Eya4	A	G	10: 23,035,008 (GRCm39)	S116P	probably benign	Het
Gabra4	T	A	5: 71,729,510 (GRCm39)	E423D	probably benign	Het
Kcnh8	A	G	17: 53,266,471 (GRCm39)	T828A	probably benign	Het
Nr5a2	A	G	1: 136,868,145 (GRCm39)		probably null	Het
Nup214	C	T	2: 31,921,287 (GRCm39)	P1237S	probably benign	Het
Phactr3	A	G	2: 177,920,792 (GRCm39)	D215G	probably damaging	Het
Phf2	G	T	13: 48,959,315 (GRCm39)	P897Q	unknown	Het
Pla2r1	T	C	2: 60,285,545 (GRCm39)	R690G	probably damaging	Het
Ppargc1b	A	G	18: 61,445,314 (GRCm39)	S181P	possibly damaging	Het
Sele	A	T	1: 163,877,699 (GRCm39)	I165F	probably damaging	Het
Srcap	T	C	7: 127,141,625 (GRCm39)	S1626P	probably benign	Het
Tenm2	A	G	11: 35,959,285 (GRCm39)	I1088T	probably benign	Het
Tnrc18	T	C	5: 142,775,927 (GRCm39)	S69G	probably damaging	Het
Trmt5	C	A	12: 73,328,232 (GRCm39)	E324*	probably null	Het
Ttll3	T	C	6: 113,376,700 (GRCm39)	I360T	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	Het

Other mutations in Ighv1-67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Ighv1-67	APN	12	115,567,687 (GRCm39)	missense	probably benign	0.39
R2896:Ighv1-67	UTSW	12	115,567,595 (GRCm39)	missense	probably damaging	0.96
R6766:Ighv1-67	UTSW	12	115,567,654 (GRCm39)	missense	possibly damaging	0.76
R7220:Ighv1-67	UTSW	12	115,567,666 (GRCm39)	missense	probably benign	0.45
R8335:Ighv1-67	UTSW	12	115,567,744 (GRCm39)	missense	probably damaging	0.97
R8680:Ighv1-67	UTSW	12	115,567,861 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16