Mutagenetix > Incidental Mutation

Incidental Mutation 'R4479:Ighv1-22'

377723

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-22

Ensembl Gene

ENSMUSG00000094561

Gene Name

immunoglobulin heavy variable 1-22

Synonyms

Gm16860

MMRRC Submission

041736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R4479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114709893-114710186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114710283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 15 (A15E)

Ref Sequence

ENSEMBL: ENSMUSP00000100288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103507]

AlphaFold

A0A075B5U7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103507
AA Change: A15E

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100288
Gene: ENSMUSG00000094561
AA Change: A15E

Domain	Start	End	E-Value	Type
IGv	36	117	9.01e-29	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,654,663 (GRCm39)	T553A	possibly damaging	Het
Adamts20	C	T	15: 94,301,326 (GRCm39)	R66H	probably damaging	Het
Anks1b	A	G	10: 89,885,754 (GRCm39)	E150G	probably damaging	Het
Chp2	A	G	7: 121,820,141 (GRCm39)	D97G	probably benign	Het
Cnbd2	T	C	2: 156,175,573 (GRCm39)		probably benign	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dusp15	A	G	2: 152,786,102 (GRCm39)	L135P	probably damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Erlin2	G	T	8: 27,515,127 (GRCm39)	V10L	probably benign	Het
F830104G03Rik	A	G	3: 56,797,634 (GRCm39)	S98P	unknown	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Ints4	T	C	7: 97,134,178 (GRCm39)	S37P	probably damaging	Het
Irs1	G	A	1: 82,265,015 (GRCm39)	T1067I	probably damaging	Het
Lrrc28	C	T	7: 67,181,362 (GRCm39)		probably null	Het
Or10v1	A	G	19: 11,873,922 (GRCm39)	Y179C	probably damaging	Het
Or4a71	A	G	2: 89,358,514 (GRCm39)	I80T	possibly damaging	Het
Or5ac24	G	A	16: 59,165,230 (GRCm39)	T278I	probably damaging	Het
Psg18	C	T	7: 18,084,787 (GRCm39)	S103N	probably benign	Het
Psma3	T	C	12: 71,031,555 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,372,412 (GRCm39)		probably benign	Het
Tas2r115	T	C	6: 132,714,495 (GRCm39)	D152G	probably damaging	Het
Tti1	A	T	2: 157,850,315 (GRCm39)	L308Q	possibly damaging	Het
Unc93b1	G	A	19: 3,985,236 (GRCm39)	A15T	probably benign	Het
Usp43	G	A	11: 67,747,233 (GRCm39)	R820C	possibly damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Wdr73	T	C	7: 80,542,969 (GRCm39)	E213G	probably benign	Het
Zfp286	C	G	11: 62,671,030 (GRCm39)	G348R	probably damaging	Het
Zkscan5	T	C	5: 145,147,984 (GRCm39)		probably benign	Het

Other mutations in Ighv1-22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01798:Ighv1-22	APN	12	114,710,298 (GRCm39)	missense	probably damaging	1.00
IGL02584:Ighv1-22	APN	12	114,709,942 (GRCm39)	missense	probably benign	0.00
R2858:Ighv1-22	UTSW	12	114,709,918 (GRCm39)	missense	probably damaging	1.00
R3849:Ighv1-22	UTSW	12	114,710,301 (GRCm39)	missense	possibly damaging	0.89
R4667:Ighv1-22	UTSW	12	114,710,071 (GRCm39)	missense	probably damaging	0.96
R4874:Ighv1-22	UTSW	12	114,710,036 (GRCm39)	missense	probably benign	0.07
R5151:Ighv1-22	UTSW	12	114,709,928 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTCAAGGCTCTTTCCATGGC -3'
(R):5'- TCCCCTGGTCATGAATATGC -3'

Sequencing Primer
(F):5'- GAATGTGTATCCAGAAGCCTTGC -3'
(R):5'- CCCCTGGTCATGAATATGCAAATTAC -3'

Posted On

2016-03-24