Mutagenetix > Incidental Mutation

Incidental Mutation 'R6588:Ighv1-84'

527426

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-84

Ensembl Gene

ENSMUSG00000094940

Gene Name

immunoglobulin heavy variable 1-84

Synonyms

MMRRC Submission

044712-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6588 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115944322-115944754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115944371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 101 (Q101L)

Ref Sequence

ENSEMBL: ENSMUSP00000100332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103551]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103551
AA Change: Q101L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000100332
Gene: ENSMUSG00000094940
AA Change: Q101L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	7.04e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199781

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,340,766 (GRCm39)	S132P	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Clcn3	T	C	8: 61,367,861 (GRCm39)	I763V	probably benign	Het
Cpsf1	A	G	15: 76,481,022 (GRCm39)	Y1254H	probably damaging	Het
Erc1	C	T	6: 119,552,687 (GRCm39)	A1088T	possibly damaging	Het
Fhl4	A	G	10: 84,933,971 (GRCm39)	V270A	possibly damaging	Het
Ghr	T	C	15: 3,349,750 (GRCm39)	E476G	probably benign	Het
Itfg1	T	C	8: 86,462,759 (GRCm39)	I455V	probably benign	Het
Kitl	T	A	10: 99,899,954 (GRCm39)	N86K	probably damaging	Het
Kmt2c	C	T	5: 25,528,787 (GRCm39)	G1614E	probably damaging	Het
Lrrd1	A	G	5: 3,901,386 (GRCm39)	S564G	probably benign	Het
Lsm3	GATATATA	GATATATATA	6: 91,496,617 (GRCm39)		probably null	Het
Macroh2a1	C	T	13: 56,252,302 (GRCm39)	G97D	possibly damaging	Het
Mms19	C	T	19: 41,954,715 (GRCm39)	R68Q	probably damaging	Het
Or10aa1	G	T	1: 173,869,844 (GRCm39)	M109I	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or7e173	G	T	9: 19,939,162 (GRCm39)	P24Q	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Zfp64	A	T	2: 168,768,827 (GRCm39)	C262S	probably damaging	Het

Other mutations in Ighv1-84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Ighv1-84	APN	12	115,944,549 (GRCm39)	nonsense	probably null
R7459:Ighv1-84	UTSW	12	115,944,432 (GRCm39)	missense	probably benign	0.14
R7916:Ighv1-84	UTSW	12	115,944,609 (GRCm39)	missense	probably benign	0.10
R8686:Ighv1-84	UTSW	12	115,944,524 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAACGTTTGCAAAGCTGAC -3'
(R):5'- GGCTACACCTTCACTGACTAC -3'

Sequencing Primer
(F):5'- CTGACAAAGGCACTATAGGACTCTG -3'
(R):5'- TGACTACTATATAAACTGGGTGAAGC -3'

Posted On

2018-07-23