Mutagenetix > Incidental Mutation

Incidental Mutation 'R6514:Ighv1-66'

520531

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-66

Ensembl Gene

ENSMUSG00000095519

Gene Name

immunoglobulin heavy variable 1-66

Synonyms

Gm16901

MMRRC Submission

044641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R6514 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115556730-115557023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115556740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 114 (Y114C)

Ref Sequence

ENSEMBL: ENSMUSP00000100318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103537]

AlphaFold

A0A075B5X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103537
AA Change: Y114C

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100318
Gene: ENSMUSG00000095519
AA Change: Y114C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.17e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200554

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

95% (35/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	G	A	11: 50,833,569 (GRCm39)	A11V	unknown	Het
Add1	T	A	5: 34,763,317 (GRCm39)	H168Q	probably damaging	Het
Apol7b	C	T	15: 77,308,126 (GRCm39)	R123Q	probably benign	Het
Arrdc3	A	G	13: 81,037,309 (GRCm39)	E155G	probably damaging	Het
Capn7	T	G	14: 31,066,511 (GRCm39)	D108E	probably benign	Het
Cdc6	A	G	11: 98,810,118 (GRCm39)	T476A	probably benign	Het
Cntnap5c	A	G	17: 58,637,165 (GRCm39)	E1014G	probably damaging	Het
Crybg1	A	T	10: 43,873,211 (GRCm39)	L1299H	probably damaging	Het
Duoxa1	A	G	2: 122,135,194 (GRCm39)	S184P	probably benign	Het
Ech1	A	G	7: 28,525,440 (GRCm39)	H65R	possibly damaging	Het
Egr3	T	C	14: 70,316,366 (GRCm39)	L59P	probably damaging	Het
Eif4enif1	T	A	11: 3,190,996 (GRCm39)	D724E	probably null	Het
Erbb2	A	G	11: 98,310,972 (GRCm39)	D44G	probably benign	Het
Fer1l5	A	G	1: 36,442,697 (GRCm39)	I739V	probably benign	Het
Gfm1	T	C	3: 67,380,879 (GRCm39)	F665L	probably benign	Het
Gm10801	T	A	2: 98,494,214 (GRCm39)	W119R	probably benign	Het
H2-M11	A	T	17: 36,859,839 (GRCm39)	E277D	probably damaging	Het
Irf1	C	G	11: 53,662,148 (GRCm39)	L12V	probably damaging	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Ly6g	C	T	15: 75,028,581 (GRCm39)	P14S	probably benign	Het
Mfsd13a	T	C	19: 46,363,064 (GRCm39)		probably null	Het
Mme	T	A	3: 63,272,265 (GRCm39)	C621*	probably null	Het
Mmp16	T	C	4: 18,116,123 (GRCm39)	C576R	probably damaging	Het
Ngp	A	T	9: 110,249,017 (GRCm39)	I30F	probably damaging	Het
Or2q1	T	A	6: 42,794,930 (GRCm39)	I175N	probably damaging	Het
Pdcd6ip	G	A	9: 113,518,762 (GRCm39)	T166I	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,796,916 (GRCm39)	H440Q	probably benign	Het
Ppl	A	G	16: 4,905,181 (GRCm39)	S1705P	probably damaging	Het
Ryr1	A	G	7: 28,746,266 (GRCm39)	F3831S	probably damaging	Het
Serpine2	A	C	1: 79,799,287 (GRCm39)		probably null	Het
Skor2	T	A	18: 76,950,389 (GRCm39)	W906R	probably damaging	Het
Tle6	G	A	10: 81,427,810 (GRCm39)	H482Y	probably damaging	Het
Ufl1	T	A	4: 25,262,238 (GRCm39)	D336V	probably damaging	Het
Vav1	T	C	17: 57,634,660 (GRCm39)	F832L	probably damaging	Het

Other mutations in Ighv1-66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01414:Ighv1-66	APN	12	115,556,929 (GRCm39)	missense	probably benign	0.26
R4424:Ighv1-66	UTSW	12	115,557,157 (GRCm39)	missense	probably damaging	0.97
R4584:Ighv1-66	UTSW	12	115,557,016 (GRCm39)	missense	possibly damaging	0.93
R4691:Ighv1-66	UTSW	12	115,556,929 (GRCm39)	missense	probably benign	0.26
R5522:Ighv1-66	UTSW	12	115,556,755 (GRCm39)	missense	probably damaging	1.00
R7030:Ighv1-66	UTSW	12	115,557,157 (GRCm39)	missense	probably damaging	0.97
R8480:Ighv1-66	UTSW	12	115,557,002 (GRCm39)	missense	possibly damaging	0.74
R8887:Ighv1-66	UTSW	12	115,557,032 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAAAGGCACTATAGGACTCTG -3'
(R):5'- TATCCTGCAAGGCTTCTGGC -3'

Sequencing Primer
(F):5'- GCACTATAGGACTCTGAGGAGG -3'
(R):5'- GCTACTATATACACTGGGTGAAGC -3'

Posted On

2018-06-06