Mutagenetix > Incidental Mutation

Incidental Mutation 'R6568:Ighv1-34'

526170

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-34

Ensembl Gene

ENSMUSG00000093955

Gene Name

immunoglobulin heavy variable 1-34

Synonyms

Gm16735

MMRRC Submission

044692-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114814810-114815103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114815231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 5 (W5R)

Ref Sequence

ENSEMBL: ENSMUSP00000100293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103512]

AlphaFold

A0A075B5V2

Predicted Effect

probably benign
Transcript: ENSMUST00000103512
AA Change: W5R

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100293
Gene: ENSMUSG00000093955
AA Change: W5R

Domain	Start	End	E-Value	Type
IGv	36	117	5.63e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	C	1: 138,779,872 (GRCm39)	K127E	possibly damaging	Het
Ash1l	G	A	3: 88,959,344 (GRCm39)	M2240I	probably benign	Het
Bhmt1b	A	T	18: 87,775,566 (GRCm39)	Y363F	probably benign	Het
Ccr5	G	A	9: 123,925,236 (GRCm39)	A280T	probably damaging	Het
Ceacam5	C	T	7: 17,479,416 (GRCm39)	L178F	probably damaging	Het
Col2a1	T	C	15: 97,875,157 (GRCm39)	N1259S	unknown	Het
Doc2b	A	C	11: 75,667,820 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,216,859 (GRCm39)	N2144D	probably damaging	Het
Hdac1-ps	A	G	17: 78,800,017 (GRCm39)	Y336C	probably damaging	Het
Kdr	A	G	5: 76,122,434 (GRCm39)	V497A	probably benign	Het
Miip	T	A	4: 147,950,372 (GRCm39)	M75L	probably benign	Het
Mplkip	T	C	13: 17,870,262 (GRCm39)	S65P	probably damaging	Het
Ms4a13	A	G	19: 11,168,923 (GRCm39)	L34P	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nek1	T	C	8: 61,559,855 (GRCm39)	S896P	probably benign	Het
Or5ac17	A	T	16: 59,036,641 (GRCm39)	C112S	probably benign	Het
Polr3b	T	A	10: 84,470,767 (GRCm39)	M136K	probably damaging	Het
Rgsl1	A	C	1: 153,697,292 (GRCm39)	W508G	possibly damaging	Het
Ros1	A	T	10: 52,038,908 (GRCm39)	M354K	probably damaging	Het
Slc34a2	T	C	5: 53,226,476 (GRCm39)	L533P	probably damaging	Het
Taf2	G	A	15: 54,928,026 (GRCm39)	L126F	probably damaging	Het
Tlr12	T	C	4: 128,511,785 (GRCm39)	D155G	probably benign	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Zfp942	T	G	17: 22,148,043 (GRCm39)	K195N	probably benign	Het

Other mutations in Ighv1-34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Ighv1-34	APN	12	114,815,003 (GRCm39)	missense	probably benign	0.33
IGL03094:Ighv1-34	APN	12	114,814,958 (GRCm39)	missense	probably damaging	1.00
R8337:Ighv1-34	UTSW	12	114,814,939 (GRCm39)	missense	probably benign	0.21
R9411:Ighv1-34	UTSW	12	114,815,070 (GRCm39)	missense	probably damaging	1.00
R9649:Ighv1-34	UTSW	12	114,814,885 (GRCm39)	missense	possibly damaging	0.54
R9650:Ighv1-34	UTSW	12	114,814,885 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- AGGCTTCACCAACTCAGGTC -3'
(R):5'- GGGTTTGGACTAGACCATCC -3'

Sequencing Primer
(F):5'- AACTCAGGTCCAGACTGTTG -3'
(R):5'- TGGACTAGACCATCCTGCTG -3'

Posted On

2018-06-22