Mutagenetix > Incidental Mutation

Incidental Mutation 'R5370:Ighv3-5'

429610

Institutional Source

Beutler Lab

Gene Symbol

Ighv3-5

Ensembl Gene

ENSMUSG00000076670

Gene Name

immunoglobulin heavy variable 3-5

Synonyms

Gm7112

MMRRC Submission

042947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114226272-114226570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114226518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 36 (V36A)

Ref Sequence

ENSEMBL: ENSMUSP00000141480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103479] [ENSMUST00000195619]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103479
AA Change: V18A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000100260
Gene: ENSMUSG00000076670
AA Change: V18A

Domain	Start	End	E-Value	Type
IGv	17	99	1.78e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000103480

SMART Domains

Protein: ENSMUSP00000100261
Gene: ENSMUSG00000076671

Domain	Start	End	E-Value	Type
IGv	17	98	2.24e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195594

Predicted Effect

probably benign
Transcript: ENSMUST00000195619
AA Change: V36A

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141480
Gene: ENSMUSG00000076670
AA Change: V36A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGv	35	117	7.1e-30	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Armc3	A	C	2: 19,290,873 (GRCm39)	T451P	probably benign	Het
Ass1	G	A	2: 31,408,745 (GRCm39)	V379M	possibly damaging	Het
Cdhr2	A	G	13: 54,868,700 (GRCm39)	Y554C	probably damaging	Het
Clec4g	C	A	8: 3,768,344 (GRCm39)	R129L	probably benign	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Dnah9	T	A	11: 65,920,180 (GRCm39)	T2238S	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Ephb2	T	C	4: 136,498,881 (GRCm39)	E66G	probably benign	Het
Fam169a	T	A	13: 97,243,470 (GRCm39)	C167S	probably damaging	Het
Ggcx	T	C	6: 72,402,914 (GRCm39)	S291P	possibly damaging	Het
Gsdme	T	A	6: 50,206,286 (GRCm39)	I186F	probably damaging	Het
Gzma	T	A	13: 113,232,329 (GRCm39)	M191L	probably damaging	Het
Heatr1	T	A	13: 12,416,403 (GRCm39)	S226T	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hs6st1	T	A	1: 36,108,162 (GRCm39)	S142T	probably damaging	Het
Leng8	A	G	7: 4,148,433 (GRCm39)	D735G	possibly damaging	Het
Mapk13	T	A	17: 28,995,326 (GRCm39)	Y182*	probably null	Het
Mrgprb8	A	T	7: 48,038,568 (GRCm39)	T80S	probably benign	Het
Myom2	G	A	8: 15,149,343 (GRCm39)	A605T	probably benign	Het
Nxf1	A	G	19: 8,749,504 (GRCm39)	T134A	probably damaging	Het
Or2n1d	G	T	17: 38,646,335 (GRCm39)	G96*	probably null	Het
Padi3	C	A	4: 140,537,849 (GRCm39)	E24*	probably null	Het
Pcdhga3	T	A	18: 37,808,343 (GRCm39)	D265E	probably damaging	Het
Pros1	A	T	16: 62,734,339 (GRCm39)	I382L	probably benign	Het
Ptpn23	A	G	9: 110,214,769 (GRCm39)	V1544A	possibly damaging	Het
Rhoh	G	T	5: 66,049,921 (GRCm39)	A64S	probably benign	Het
Rnf115	A	G	3: 96,665,336 (GRCm39)	T69A	probably benign	Het
Taf5	A	G	19: 47,064,203 (GRCm39)	E382G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn2r104	A	T	17: 20,250,450 (GRCm39)	I607N	probably damaging	Het
Vmn2r11	T	C	5: 109,195,421 (GRCm39)	Y635C	probably damaging	Het
Vwa5a	A	G	9: 38,652,512 (GRCm39)	D765G	probably benign	Het
Wnk2	T	C	13: 49,256,437 (GRCm39)	D228G	probably damaging	Het
Xirp2	A	G	2: 67,342,496 (GRCm39)	D1579G	possibly damaging	Het

Other mutations in Ighv3-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4562:Ighv3-5	UTSW	12	114,226,498 (GRCm39)	missense	possibly damaging	0.54
R5373:Ighv3-5	UTSW	12	114,226,573 (GRCm39)	missense	probably damaging	1.00
R6220:Ighv3-5	UTSW	12	114,226,338 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGTCCTCAGCAGTCAAAG -3'
(R):5'- ACTCTTCTGTACCTGTTGACAG -3'

Sequencing Primer
(F):5'- GTGTCCTCAGCAGTCAAAGAGTTC -3'
(R):5'- ACCTGTTGACAGTCGTTCCTGG -3'

Posted On

2016-09-06