Mutagenetix > Incidental Mutation

Incidental Mutation 'R8459:Ighv1-64'

655192

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-64

Ensembl Gene

ENSMUSG00000094088

Gene Name

immunoglobulin heavy variable 1-64

Synonyms

Gm16865

MMRRC Submission

067836-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R8459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115471207-115471597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115471256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 87 (A87V)

Ref Sequence

ENSEMBL: ENSMUSP00000100316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103535]

AlphaFold

A0A075B5X3

Predicted Effect

probably benign
Transcript: ENSMUST00000103535
AA Change: A87V

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

SMART Domains

Protein: ENSMUSP00000100316
Gene: ENSMUSG00000094088
AA Change: A87V

Domain	Start	End	E-Value	Type
IGv	36	117	2.29e-30	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	CTTGTTGT	CTTGT	1: 173,289,536 (GRCm39)		probably benign	Het
Ank1	T	C	8: 23,605,528 (GRCm39)	V1132A	probably damaging	Het
Bpifb9a	T	G	2: 154,102,153 (GRCm39)	S83R	probably damaging	Het
Cacnb3	C	T	15: 98,537,393 (GRCm39)	R24C	probably damaging	Het
Car8	C	T	4: 8,189,302 (GRCm39)	V171I	probably benign	Het
Cd200l1	T	A	16: 45,238,271 (GRCm39)	H294L	probably benign	Het
Cdk17	G	C	10: 93,068,289 (GRCm39)	V349L	probably damaging	Het
Celsr3	A	G	9: 108,706,829 (GRCm39)	E1104G	probably damaging	Het
Chml	T	C	1: 175,515,597 (GRCm39)	D108G	probably benign	Het
Cluap1	T	C	16: 3,755,453 (GRCm39)	M356T	probably damaging	Het
Cmtm1	A	G	8: 105,036,143 (GRCm39)	V162A	possibly damaging	Het
Cryge	T	C	1: 65,087,841 (GRCm39)	D156G	possibly damaging	Het
Disc1	A	C	8: 125,891,894 (GRCm39)	D649A	possibly damaging	Het
Dnah8	T	C	17: 30,944,221 (GRCm39)		probably null	Het
Dpp7	C	A	2: 25,242,550 (GRCm39)	V468F	probably damaging	Het
Ecpas	A	G	4: 58,821,379 (GRCm39)	V1207A	probably damaging	Het
Ep400	A	G	5: 110,856,757 (GRCm39)	F1163S	unknown	Het
Fbrs	C	T	7: 127,082,329 (GRCm39)	R327W	probably damaging	Het
Fsip2	T	A	2: 82,810,022 (GRCm39)	Y2114N	possibly damaging	Het
Gnas	A	T	2: 174,126,732 (GRCm39)	H89L	probably benign	Het
Gstt1	G	A	10: 75,629,943 (GRCm39)	R107W	probably damaging	Het
Hal	A	G	10: 93,352,177 (GRCm39)	D656G	probably benign	Het
Htra3	G	A	5: 35,828,569 (GRCm39)		probably benign	Het
Itga3	A	G	11: 94,959,633 (GRCm39)	V80A	probably benign	Het
Lrrc58	A	G	16: 37,698,872 (GRCm39)	N280D	probably benign	Het
Macf1	T	C	4: 123,374,107 (GRCm39)	E1501G	possibly damaging	Het
Madd	A	G	2: 90,992,871 (GRCm39)	I1016T	probably benign	Het
Mbnl1	T	G	3: 60,529,628 (GRCm39)	S260R	probably damaging	Het
Or5h17	A	T	16: 58,820,348 (GRCm39)	Q100L	probably damaging	Het
Phip	G	T	9: 82,758,106 (GRCm39)	A1529D	probably benign	Het
Pramel58	A	G	5: 94,830,742 (GRCm39)	D80G	probably damaging	Het
Prorsd1	T	C	11: 29,463,286 (GRCm39)	T159A	probably damaging	Het
Sh3tc1	C	A	5: 35,878,933 (GRCm39)	R67L	probably benign	Het
Skint5	A	T	4: 113,703,481 (GRCm39)	L518*	probably null	Het
Slc26a11	T	A	11: 119,259,643 (GRCm39)	I280N	possibly damaging	Het
Spata16	A	G	3: 26,721,676 (GRCm39)	T66A	probably benign	Het
Syne1	G	A	10: 5,374,277 (GRCm39)	R177*	probably null	Het
Vmn1r16	A	C	6: 57,300,347 (GRCm39)	C92G	probably benign	Het
Vmn1r50	A	G	6: 90,084,235 (GRCm39)		probably benign	Het

Other mutations in Ighv1-64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ighv1-64	APN	12	115,471,596 (GRCm39)	start codon destroyed	probably null	1.00
IGL02355:Ighv1-64	APN	12	115,471,236 (GRCm39)	missense	probably benign	0.01
IGL02362:Ighv1-64	APN	12	115,471,236 (GRCm39)	missense	probably benign	0.01
IGL02615:Ighv1-64	APN	12	115,471,307 (GRCm39)	missense	possibly damaging	0.90
IGL03085:Ighv1-64	APN	12	115,471,461 (GRCm39)	missense	possibly damaging	0.79
R4724:Ighv1-64	UTSW	12	115,471,466 (GRCm39)	missense	probably benign	0.02
R4829:Ighv1-64	UTSW	12	115,471,346 (GRCm39)	missense	probably benign
R8080:Ighv1-64	UTSW	12	115,471,463 (GRCm39)	missense	probably benign	0.00
R8735:Ighv1-64	UTSW	12	115,471,217 (GRCm39)	missense	probably benign	0.18
R9324:Ighv1-64	UTSW	12	115,471,645 (GRCm39)	start gained	probably benign
Z1177:Ighv1-64	UTSW	12	115,471,286 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGAGTCTCCTAAGTCCCAGG -3'
(R):5'- GACAATGACATCCACTTTGCCC -3'

Sequencing Primer
(F):5'- AAGTCCCAGGGCAGTTTGTTACC -3'
(R):5'- TCCAACTGCAGCAGCCTG -3'

Posted On

2020-10-20