Mutagenetix > Incidental Mutation

Incidental Mutation 'R6687:Ighv9-3'

527838

Institutional Source

Beutler Lab

Gene Symbol

Ighv9-3

Ensembl Gene

ENSMUSG00000096459

Gene Name

immunoglobulin heavy variable V9-3

Synonyms

ENSMUSG00000072803

MMRRC Submission

044805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R6687 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114104312-114104742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114104544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 40 (S40F)

Ref Sequence

ENSEMBL: ENSMUSP00000100254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103473]

AlphaFold

A0A0B4J1J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103473
AA Change: S40F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100254
Gene: ENSMUSG00000096459
AA Change: S40F

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
IGv	36	117	1.39e-29	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,248,392 (GRCm39)	V688A	probably benign	Het
AI661453	A	G	17: 47,777,927 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,034,842 (GRCm39)	F180S	probably benign	Het
Cfd	G	A	10: 79,727,553 (GRCm39)	V77M	probably damaging	Het
Col5a2	A	T	1: 45,422,764 (GRCm39)	L1151H	probably damaging	Het
Dennd3	G	A	15: 73,428,215 (GRCm39)	V854M	possibly damaging	Het
Dlg5	C	T	14: 24,240,441 (GRCm39)	R247Q	probably damaging	Het
Fam3c	G	C	6: 22,328,669 (GRCm39)	P53A	probably benign	Het
Gpbp1	T	C	13: 111,574,619 (GRCm39)	N302D	possibly damaging	Het
Hmcn1	A	G	1: 150,620,784 (GRCm39)	V1142A	probably benign	Het
Insr	C	T	8: 3,248,111 (GRCm39)	R478H	probably benign	Het
Kcna2	C	A	3: 107,012,343 (GRCm39)	S308Y	probably damaging	Het
Larp1	A	G	11: 57,948,156 (GRCm39)	D985G	probably damaging	Het
Loxl3	A	T	6: 83,027,645 (GRCm39)	H729L	probably damaging	Het
Lrrc14b	T	C	13: 74,508,881 (GRCm39)	M509V	probably benign	Het
Lrrc8e	A	G	8: 4,284,798 (GRCm39)	Y341C	probably damaging	Het
Mettl18	A	G	1: 163,824,369 (GRCm39)	D230G	possibly damaging	Het
Mup12	T	C	4: 60,697,308 (GRCm39)		probably benign	Het
Myo1c	T	C	11: 75,563,027 (GRCm39)	S1020P	probably benign	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Phkb	T	C	8: 86,756,175 (GRCm39)	I823T	probably damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rpap2	T	C	5: 107,751,496 (GRCm39)		probably null	Het
Rpl38	T	C	11: 114,559,594 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,872,508 (GRCm39)	F516L	probably benign	Het
Slc51a	A	T	16: 32,298,543 (GRCm39)	D71E	probably damaging	Het
Slco1a6	T	C	6: 142,045,076 (GRCm39)	E470G	possibly damaging	Het
Spag17	C	A	3: 100,000,266 (GRCm39)	H1811N	probably benign	Het
Sycp2	C	T	2: 177,996,753 (GRCm39)	C1150Y	probably damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Wdr83	C	T	8: 85,806,778 (GRCm39)	V101I	probably benign	Het
Wnt3	G	T	11: 103,703,411 (GRCm39)	R298L	probably damaging	Het

Other mutations in Ighv9-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Ighv9-3	APN	12	114,104,691 (GRCm39)	splice site	probably benign
R2764:Ighv9-3	UTSW	12	114,104,490 (GRCm39)	missense	probably damaging	0.99
R7062:Ighv9-3	UTSW	12	114,104,712 (GRCm39)	missense	probably benign
R8552:Ighv9-3	UTSW	12	114,104,349 (GRCm39)	missense	probably damaging	1.00
R8839:Ighv9-3	UTSW	12	114,104,385 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TGCAAATAGGCAGTGCTGG -3'
(R):5'- GCCCAAGTCTTAGACATCATGG -3'

Sequencing Primer
(F):5'- TGCTGGCAGAGGTTTCCAAAG -3'
(R):5'- CCAAGTCTTAGACATCATGGGTTGG -3'

Posted On

2018-07-23