Mutagenetix > Incidental Mutation

Incidental Mutation 'R4270:Ighv1-43'

322137

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-43

Ensembl Gene

ENSMUSG00000095859

Gene Name

immunoglobulin heavy variable V1-43

Synonyms

MMRRC Submission

041075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4270 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114909570-114909863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 114909772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 50 (G50A)

Ref Sequence

ENSEMBL: ENSMUSP00000142065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103517] [ENSMUST00000195417]

AlphaFold

A0A075B5V7

Predicted Effect

probably benign
Transcript: ENSMUST00000103517
AA Change: G31A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100298
Gene: ENSMUSG00000095859
AA Change: G31A

Domain	Start	End	E-Value	Type
IGv	17	98	3.36e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195417
AA Change: G50A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000142065
Gene: ENSMUSG00000095859
AA Change: G50A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.4e-30	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Ctsa	G	T	2: 164,677,222 (GRCm39)	M210I	probably benign	Het
Ctsh	A	G	9: 89,943,651 (GRCm39)	H92R	probably damaging	Het
Fanca	A	G	8: 123,995,533 (GRCm39)	L117P	probably damaging	Het
Foxo1	A	G	3: 52,252,826 (GRCm39)	T330A	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Mxra8	C	A	4: 155,925,594 (GRCm39)	P98Q	probably damaging	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nubp2	A	T	17: 25,104,567 (GRCm39)	C58S	probably damaging	Het
Or8c10	A	G	9: 38,278,997 (GRCm39)	N52D	probably damaging	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rbms3	T	A	9: 116,885,816 (GRCm39)	N94I	probably damaging	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Rwdd3	T	C	3: 120,952,550 (GRCm39)	D147G	probably damaging	Het
Slc30a5	T	G	13: 100,965,521 (GRCm39)	R29S	probably benign	Het
Syt10	C	A	15: 89,675,095 (GRCm39)	R417L	probably benign	Het
Trim58	T	C	11: 58,542,093 (GRCm39)	V351A	probably damaging	Het
Trpc3	G	T	3: 36,717,074 (GRCm39)	Y321*	probably null	Het
Vmn2r107	G	T	17: 20,576,041 (GRCm39)	V124F	probably benign	Het
Xkr7	T	C	2: 152,896,235 (GRCm39)	V363A	possibly damaging	Het
Zfp597	A	T	16: 3,689,954 (GRCm39)	M1K	probably null	Het

Other mutations in Ighv1-43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01817:Ighv1-43	APN	12	114,909,715 (GRCm39)	missense	probably benign
IGL01817:Ighv1-43	APN	12	114,909,714 (GRCm39)	missense	probably benign
IGL02862:Ighv1-43	APN	12	114,909,859 (GRCm39)	missense	probably damaging	0.98
IGL03379:Ighv1-43	APN	12	114,909,625 (GRCm39)	missense	probably benign	0.41
R3921:Ighv1-43	UTSW	12	114,909,772 (GRCm39)	missense	probably benign	0.11
R4753:Ighv1-43	UTSW	12	114,909,762 (GRCm39)	missense	probably benign	0.00
R4977:Ighv1-43	UTSW	12	114,909,845 (GRCm39)	missense	possibly damaging	0.95
R5949:Ighv1-43	UTSW	12	114,910,002 (GRCm39)	start codon destroyed	probably null	0.22
R5977:Ighv1-43	UTSW	12	114,909,829 (GRCm39)	missense	probably benign	0.07
R7889:Ighv1-43	UTSW	12	114,909,583 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGCTCTTGAGCTGCATG -3'
(R):5'- CTATGGAATGGAGCTGGGTC -3'

Sequencing Primer
(F):5'- CTCTTGAGCTGCATGTAGGC -3'
(R):5'- CTCCTGTCAGTAACTACAGGTAAGG -3'

Posted On

2015-06-20