Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02980:Ighv9-2'

392150

Institutional Source

Beutler Lab

Gene Symbol

Ighv9-2

Ensembl Gene

ENSMUSG00000094102

Gene Name

immunoglobulin heavy variable V9-2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL02980 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114072621-114073050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114072839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 45 (V45M)

Ref Sequence

ENSEMBL: ENSMUSP00000100253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103472]

AlphaFold

A0A0B4J1J4

Predicted Effect

probably damaging
Transcript: ENSMUST00000103472
AA Change: V45M

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100253
Gene: ENSMUSG00000094102
AA Change: V45M

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.26e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195542

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Adam28	A	T	14: 68,857,255 (GRCm39)	S584T	probably benign	Het
Akap1	A	T	11: 88,735,990 (GRCm39)	I224N	probably benign	Het
Ankdd1b	C	T	13: 96,572,448 (GRCm39)	R214Q	probably benign	Het
Armt1	A	G	10: 4,400,643 (GRCm39)		probably benign	Het
C1rl	T	C	6: 124,485,487 (GRCm39)	I286T	probably benign	Het
Cdh23	T	C	10: 60,150,399 (GRCm39)	T2528A	probably damaging	Het
Col4a4	A	G	1: 82,447,198 (GRCm39)		probably null	Het
Dag1	A	G	9: 108,095,237 (GRCm39)	I85T	probably benign	Het
Elf2	A	G	3: 51,172,379 (GRCm39)	V86A	possibly damaging	Het
Emsy	T	C	7: 98,268,587 (GRCm39)	T485A	probably damaging	Het
Fam169a	T	C	13: 97,250,188 (GRCm39)		probably null	Het
Hsd17b4	A	G	18: 50,279,585 (GRCm39)	H188R	probably benign	Het
Kifbp	A	C	10: 62,394,947 (GRCm39)	L565W	probably damaging	Het
Lama3	C	T	18: 12,686,288 (GRCm39)	L2784F	probably benign	Het
Ms4a4c	G	T	19: 11,393,747 (GRCm39)	A64S	probably benign	Het
Nudt22	A	G	19: 6,970,500 (GRCm39)	L280P	probably damaging	Het
Oscar	T	C	7: 3,614,062 (GRCm39)		probably benign	Het
Paics	A	G	5: 77,114,102 (GRCm39)	I321V	probably benign	Het
Pappa	A	T	4: 65,226,011 (GRCm39)	H1288L	probably benign	Het
Pla2r1	T	C	2: 60,345,390 (GRCm39)	E322G	possibly damaging	Het
Poldip2	T	A	11: 78,412,054 (GRCm39)	M330K	probably damaging	Het
Potefam1	G	A	2: 110,994,818 (GRCm39)	H232Y	unknown	Het
Recql5	T	C	11: 115,784,770 (GRCm39)		probably null	Het
Rnf145	A	G	11: 44,452,484 (GRCm39)	M488V	probably benign	Het
Rrp1b	T	A	17: 32,269,013 (GRCm39)	D170E	possibly damaging	Het
Slamf7	T	C	1: 171,468,566 (GRCm39)	S109G	possibly damaging	Het
Slf1	A	G	13: 77,192,123 (GRCm39)	S904P	possibly damaging	Het
St7	C	A	6: 17,749,545 (GRCm39)		probably benign	Het
Stk25	A	G	1: 93,555,390 (GRCm39)	S102P	probably damaging	Het
Supt6	C	T	11: 78,116,548 (GRCm39)	A659T	probably damaging	Het
Tdrp	A	C	8: 14,003,918 (GRCm39)	S140A	probably damaging	Het
Thbs3	A	G	3: 89,130,451 (GRCm39)	N527D	probably benign	Het
Tsnaxip1	G	T	8: 106,568,842 (GRCm39)	V444L	probably damaging	Het
U2af2	A	G	7: 5,071,042 (GRCm39)	I116V	probably benign	Het
Zfp931	C	A	2: 177,711,409 (GRCm39)		probably null	Het

Other mutations in Ighv9-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02860:Ighv9-2	APN	12	114,072,857 (GRCm39)	missense	possibly damaging	0.57
R5034:Ighv9-2	UTSW	12	114,073,025 (GRCm39)	missense	probably damaging	1.00
R5252:Ighv9-2	UTSW	12	114,072,838 (GRCm39)	missense	probably benign	0.04
R5336:Ighv9-2	UTSW	12	114,072,905 (GRCm39)	missense	probably benign
R7918:Ighv9-2	UTSW	12	114,072,911 (GRCm39)	missense	probably benign	0.00
R8032:Ighv9-2	UTSW	12	114,072,764 (GRCm39)	missense	possibly damaging	0.78
R9091:Ighv9-2	UTSW	12	114,072,896 (GRCm39)	missense	probably damaging	1.00
R9270:Ighv9-2	UTSW	12	114,072,896 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2016-06-09