Mutagenetix > Incidental Mutation

Incidental Mutation 'R3862:Ighv1-7'

474278

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-7

Ensembl Gene

ENSMUSG00000095200

Gene Name

immunoglobulin heavy variable V1-7

Synonyms

MMRRC Submission

040903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R3862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114502115-114502408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114502266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 67 (I67T)

Ref Sequence

ENSEMBL: ENSMUSP00000100277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103496]

AlphaFold

A0A075B5T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103496
AA Change: I67T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100277
Gene: ENSMUSG00000095200
AA Change: I67T

Domain	Start	End	E-Value	Type
IGv	36	117	6.22e-32	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	G	A	10: 80,143,393 (GRCm39)	G498R	possibly damaging	Het
Bltp1	T	A	3: 36,939,547 (GRCm39)	F134I	possibly damaging	Het
Bub1	A	G	2: 127,656,676 (GRCm39)		probably benign	Het
Cttnbp2	C	T	6: 18,434,905 (GRCm39)	V318M	probably benign	Het
D430041D05Rik	T	C	2: 104,044,522 (GRCm39)	I825M	possibly damaging	Het
Enpp6	A	G	8: 47,519,027 (GRCm39)	Q265R	probably benign	Het
Eri1	A	G	8: 35,958,448 (GRCm39)	V61A	possibly damaging	Het
Evi2	T	A	11: 79,406,472 (GRCm39)	I368F	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fkbp9	A	G	6: 56,845,890 (GRCm39)	T409A	probably benign	Het
Gtpbp4	A	G	13: 9,040,834 (GRCm39)	V97A	probably damaging	Het
Hapln1	C	T	13: 89,753,418 (GRCm39)	Q195*	probably null	Het
Helt	G	T	8: 46,745,315 (GRCm39)	N189K	probably benign	Het
Hint2	A	G	4: 43,654,771 (GRCm39)	V91A	probably damaging	Het
Kif26a	A	G	12: 112,146,323 (GRCm39)	E1803G	probably benign	Het
Lrrd1	G	A	5: 3,901,248 (GRCm39)	V518I	probably benign	Het
Marchf11	C	T	15: 26,387,952 (GRCm39)	A269V	probably damaging	Het
Mep1b	A	G	18: 21,217,226 (GRCm39)	N115S	possibly damaging	Het
Naif1	A	G	2: 32,342,637 (GRCm39)	R63G	probably damaging	Het
Nsmaf	A	G	4: 6,435,064 (GRCm39)	I126T	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or52h7	G	A	7: 104,214,145 (GRCm39)	R239H	probably benign	Het
Or8g53	T	A	9: 39,683,920 (GRCm39)	M59L	probably benign	Het
Pcdhb3	A	G	18: 37,436,329 (GRCm39)	E765G	probably damaging	Het
Ppp4r4	C	T	12: 103,562,680 (GRCm39)	R550*	probably null	Het
Scgb2b3	C	T	7: 31,061,430 (GRCm39)		probably null	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Slc15a1	C	T	14: 121,722,269 (GRCm39)	V211I	probably benign	Het
Slc25a21	G	T	12: 56,764,920 (GRCm39)		probably benign	Het
Snrnp200	C	A	2: 127,075,019 (GRCm39)		probably benign	Het
Spata31e5	T	C	1: 28,816,722 (GRCm39)	T437A	probably damaging	Het
Sptbn1	G	T	11: 30,092,329 (GRCm39)	Q479K	possibly damaging	Het
Stag1	T	A	9: 100,826,838 (GRCm39)	V935D	probably benign	Het
Veph1	C	T	3: 66,162,313 (GRCm39)	C115Y	probably damaging	Het
Zc3h12a	T	C	4: 125,020,732 (GRCm39)	D37G	probably benign	Het
Zfand4	A	T	6: 116,270,776 (GRCm39)		probably benign	Het

Other mutations in Ighv1-7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Ighv1-7	APN	12	114,502,381 (GRCm39)	nonsense	probably null
IGL02020:Ighv1-7	APN	12	114,502,345 (GRCm39)	missense	probably damaging	1.00
R3863:Ighv1-7	UTSW	12	114,502,266 (GRCm39)	missense	probably damaging	1.00
R3864:Ighv1-7	UTSW	12	114,502,266 (GRCm39)	missense	probably damaging	1.00
R5632:Ighv1-7	UTSW	12	114,502,501 (GRCm39)	critical splice donor site	probably benign
R5976:Ighv1-7	UTSW	12	114,502,379 (GRCm39)	missense	probably benign	0.35
R8040:Ighv1-7	UTSW	12	114,502,390 (GRCm39)	missense	probably benign	0.24
R8907:Ighv1-7	UTSW	12	114,502,353 (GRCm39)	missense	probably damaging	1.00
R9442:Ighv1-7	UTSW	12	114,502,198 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14