Mutagenetix > Incidental Mutation

Incidental Mutation 'R6769:Ighv2-9'

532097

Institutional Source

Beutler Lab

Gene Symbol

Ighv2-9

Ensembl Gene

ENSMUSG00000096638

Gene Name

immunoglobulin heavy variable 2-9

Synonyms

Gm16700

MMRRC Submission

044885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113842717-113843008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113842930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 46 (F46I)

Ref Sequence

ENSEMBL: ENSMUSP00000100232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103451]

AlphaFold

A0A075B5Q5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103451
AA Change: F46I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100232
Gene: ENSMUSG00000096638
AA Change: F46I

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
IGv	36	116	1.05e-29	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,914,105 (GRCm39)	H174Q	probably damaging	Het
Alox5	C	A	6: 116,392,145 (GRCm39)		probably null	Het
Amer3	C	A	1: 34,627,330 (GRCm39)	A523D	possibly damaging	Het
Apoa4	G	A	9: 46,154,465 (GRCm39)	M355I	probably benign	Het
Atp10b	T	C	11: 43,094,079 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,516,820 (GRCm39)	Y340N	probably damaging	Het
C1rb	T	G	6: 124,554,364 (GRCm39)	S382A	probably benign	Het
Csmd1	A	G	8: 16,121,408 (GRCm39)	V1763A	possibly damaging	Het
Ctnnd1	C	A	2: 84,450,269 (GRCm39)	R317L	probably damaging	Het
Ctnnd1	A	T	2: 84,450,454 (GRCm39)	D255E	probably damaging	Het
Dipk1b	A	G	2: 26,524,875 (GRCm39)	R92G	probably benign	Het
Dmxl2	A	T	9: 54,323,808 (GRCm39)	I1192N	probably damaging	Het
Efcab5	A	G	11: 76,996,258 (GRCm39)	V1101A	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Flg	T	C	3: 93,195,630 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,746,800 (GRCm39)	I623M	possibly damaging	Het
Gm7361	T	A	5: 26,462,767 (GRCm39)	L3*	probably null	Het
Gpr35	T	A	1: 92,910,426 (GRCm39)	M46K	probably damaging	Het
Kdm4b	C	T	17: 56,658,754 (GRCm39)	A33V	possibly damaging	Het
Klhl5	T	A	5: 65,321,995 (GRCm39)	Y534N	probably damaging	Het
Mccc1	C	T	3: 36,043,992 (GRCm39)		probably null	Het
Memo1	A	T	17: 74,508,273 (GRCm39)	F270L	probably damaging	Het
Mnat1	A	G	12: 73,319,196 (GRCm39)	N273S	probably benign	Het
Niban2	C	T	2: 32,785,666 (GRCm39)			Het
Nxpe3	C	A	16: 55,686,471 (GRCm39)	G179V	probably damaging	Het
Or5b120	T	A	19: 13,480,318 (GRCm39)	F204I	possibly damaging	Het
Otp	A	G	13: 95,012,294 (GRCm39)	D6G	probably damaging	Het
Prdm5	T	A	6: 65,839,920 (GRCm39)	I265K	probably damaging	Het
Ptpn4	T	A	1: 119,643,698 (GRCm39)	N350I	probably benign	Het
Rassf10	A	G	7: 112,553,635 (GRCm39)	M79V	probably benign	Het
Rassf4	T	A	6: 116,618,433 (GRCm39)	D215V	possibly damaging	Het
Rbm12	A	T	2: 155,939,375 (GRCm39)	I299N	possibly damaging	Het
Scfd2	T	C	5: 74,692,117 (GRCm39)	H55R	probably benign	Het
Scn8a	A	G	15: 100,933,445 (GRCm39)	N1550D	probably benign	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc30a5	A	C	13: 100,950,368 (GRCm39)	S240A	probably benign	Het
Slc7a4	A	G	16: 17,393,184 (GRCm39)	V205A	possibly damaging	Het
Syde2	G	A	3: 145,704,803 (GRCm39)	G318E	probably damaging	Het
Ttn	T	A	2: 76,538,883 (GRCm39)	D34649V	possibly damaging	Het
Vmn2r83	T	A	10: 79,313,856 (GRCm39)	S155T	probably damaging	Het

Other mutations in Ighv2-9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4616:Ighv2-9	UTSW	12	113,842,839 (GRCm39)	missense	probably damaging	0.99
R6771:Ighv2-9	UTSW	12	113,842,807 (GRCm39)	missense	probably damaging	0.99
R9704:Ighv2-9	UTSW	12	113,842,746 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGCACAGTAGTACATGGCTG -3'
(R):5'- GGTTGCATTTCCAAGCTGTAAG -3'

Sequencing Primer
(F):5'- CACAGTAGTACATGGCTGTGTCATC -3'
(R):5'- CCAAGCTGTAAGTGTTTCAGAG -3'

Posted On

2018-08-29