Mutagenetix > Incidental Mutation

Incidental Mutation 'R2892:Ighv1-24'

477036

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-24

Ensembl Gene

ENSMUSG00000094241

Gene Name

immunoglobulin heavy variable V1-24

Synonyms

immunoglobulin heavy variable V1-24, Ighv1-24

MMRRC Submission

040480-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R2892 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

114736548-114736841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114736679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 74 (K74Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103509] [ENSMUST00000191861]

AlphaFold

A0A075B5U9

Predicted Effect

probably benign
Transcript: ENSMUST00000103509
AA Change: K55Q

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100290
Gene: ENSMUSG00000094241
AA Change: K55Q

Domain	Start	End	E-Value	Type
IGv	17	98	2.16e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191861
AA Change: K74Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142245
Gene: ENSMUSG00000094241
AA Change: K74Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	8.9e-20	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,751,661 (GRCm39)	D232G	probably damaging	Het
Ank2	T	C	3: 127,041,892 (GRCm39)		probably null	Het
Atp6v0a4	T	C	6: 38,029,952 (GRCm39)	E704G	probably benign	Het
Bbx	A	G	16: 50,045,104 (GRCm39)	Y378H	probably damaging	Het
Carmil3	T	C	14: 55,735,770 (GRCm39)	V574A	probably damaging	Het
Cpz	A	G	5: 35,668,473 (GRCm39)	V379A	probably damaging	Het
Cyp4f15	A	G	17: 32,905,182 (GRCm39)	D55G	probably benign	Het
Dcun1d2	A	T	8: 13,328,649 (GRCm39)	I86N	probably damaging	Het
Defa30	A	T	8: 21,624,679 (GRCm39)	M1L	probably damaging	Het
Fzd8	G	T	18: 9,214,514 (GRCm39)	G532V	probably damaging	Het
Gcfc2	T	C	6: 81,933,894 (GRCm39)	F717S	possibly damaging	Het
Gckr	T	C	5: 31,483,816 (GRCm39)	V563A	probably benign	Het
Kcnj3	A	T	2: 55,337,027 (GRCm39)	I298F	probably damaging	Het
Miga2	A	T	2: 30,268,306 (GRCm39)		probably null	Het
Mmrn2	T	G	14: 34,118,587 (GRCm39)	F158V	probably benign	Het
Mug1	G	A	6: 121,817,029 (GRCm39)	V33M	possibly damaging	Het
Myom1	T	C	17: 71,341,648 (GRCm39)	S136P	probably damaging	Het
Nadk	A	G	4: 155,671,817 (GRCm39)	N232S	possibly damaging	Het
Or6c217	A	G	10: 129,737,809 (GRCm39)	Y257H	possibly damaging	Het
Or7g27	A	G	9: 19,250,034 (GRCm39)	T93A	probably benign	Het
Pcnx2	A	G	8: 126,617,797 (GRCm39)	S153P	probably damaging	Het
Pde8b	T	C	13: 95,170,767 (GRCm39)	D633G	probably damaging	Het
Pik3ap1	G	A	19: 41,364,500 (GRCm39)	A73V	probably benign	Het
Plrg1	C	A	3: 82,978,547 (GRCm39)	Q438K	probably damaging	Het
Plxna4	A	G	6: 32,493,972 (GRCm39)	Y215H	probably damaging	Het
Rapsn	A	T	2: 90,867,169 (GRCm39)	D157V	probably damaging	Het
Rock1	G	A	18: 10,072,863 (GRCm39)	Q1161*	probably null	Het
Snrnp200	T	C	2: 127,073,697 (GRCm39)	L1365P	probably damaging	Het
Srcap	T	C	7: 127,138,237 (GRCm39)	S1136P	probably damaging	Het
Trim80	A	G	11: 115,338,849 (GRCm39)	T560A	possibly damaging	Het
Ttll2	T	C	17: 7,620,098 (GRCm39)		probably null	Het
Usp8	A	T	2: 126,600,075 (GRCm39)	Q998L	probably damaging	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Zfp82	G	A	7: 29,755,864 (GRCm39)	T406I	probably damaging	Het

Other mutations in Ighv1-24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Ighv1-24	APN	12	114,736,673 (GRCm39)	missense	probably benign	0.22
PIT4581001:Ighv1-24	UTSW	12	114,736,803 (GRCm39)	missense	probably benign
R3687:Ighv1-24	UTSW	12	114,736,700 (GRCm39)	missense	probably damaging	1.00
R3811:Ighv1-24	UTSW	12	114,736,685 (GRCm39)	missense	probably benign	0.33
R5071:Ighv1-24	UTSW	12	114,736,748 (GRCm39)	missense	probably benign	0.17
R6880:Ighv1-24	UTSW	12	114,736,663 (GRCm39)	missense	possibly damaging	0.85
R9052:Ighv1-24	UTSW	12	114,736,555 (GRCm39)	missense	probably damaging	1.00
R9254:Ighv1-24	UTSW	12	114,736,663 (GRCm39)	missense	possibly damaging	0.85
R9379:Ighv1-24	UTSW	12	114,736,663 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

Posted On

2017-05-15