Mutagenetix > Incidental Mutation

Incidental Mutation 'R5498:Igkv3-9'

432468

Institutional Source

Beutler Lab

Gene Symbol

Igkv3-9

Ensembl Gene

ENSMUSG00000095338

Gene Name

immunoglobulin kappa variable 3-9

Synonyms

MMRRC Submission

043059-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R5498 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70565173-70565761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70565727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 109 (M109V)

Ref Sequence

ENSEMBL: ENSMUSP00000100199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103398]

AlphaFold

A0A140T8P4

Predicted Effect

probably benign
Transcript: ENSMUST00000103398
AA Change: M109V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100199
Gene: ENSMUSG00000095338
AA Change: M109V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	8.17e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197635

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.8%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,885,413 (GRCm39)	K148N	probably benign	Het
Abca6	T	A	11: 110,099,670 (GRCm39)	D959V	possibly damaging	Het
Acot12	T	C	13: 91,929,352 (GRCm39)	V393A	probably damaging	Het
Ano3	C	A	2: 110,527,448 (GRCm39)	V587F	possibly damaging	Het
Bub1	T	C	2: 127,656,629 (GRCm39)	D471G	possibly damaging	Het
Cdh15	G	T	8: 123,591,917 (GRCm39)	V601F	possibly damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cnot1	A	T	8: 96,483,983 (GRCm39)	I706N	possibly damaging	Het
Fbn1	A	G	2: 125,202,096 (GRCm39)	I1259T	probably damaging	Het
Furin	A	T	7: 80,041,542 (GRCm39)	W539R	probably damaging	Het
Hivep1	A	T	13: 42,276,634 (GRCm39)		probably null	Het
Klf10	G	A	15: 38,296,283 (GRCm39)	R421W	probably damaging	Het
Mtor	A	T	4: 148,624,821 (GRCm39)	Y2144F	possibly damaging	Het
Mybpc2	T	C	7: 44,165,689 (GRCm39)	Y297C	probably damaging	Het
Myom2	G	A	8: 15,179,142 (GRCm39)	E1325K	probably benign	Het
Nsd1	A	T	13: 55,361,115 (GRCm39)	K28*	probably null	Het
Or2r11	C	T	6: 42,437,228 (GRCm39)	A242T	probably benign	Het
Or51b4	T	G	7: 103,530,839 (GRCm39)	T204P	probably damaging	Het
Phc2	C	A	4: 128,602,787 (GRCm39)	N120K	probably benign	Het
Pias3	A	G	3: 96,609,504 (GRCm39)	T274A	possibly damaging	Het
Plcb4	T	A	2: 135,818,092 (GRCm39)	I786N	probably damaging	Het
Plec	G	A	15: 76,061,654 (GRCm39)	S2626L	probably damaging	Het
Polg	A	G	7: 79,104,418 (GRCm39)	L819P	probably damaging	Het
Ppp2r3d	T	C	9: 124,439,123 (GRCm38)		probably benign	Het
Resf1	A	G	6: 149,229,738 (GRCm39)	D928G	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rnpc3	A	G	3: 113,404,856 (GRCm39)		probably null	Het
Sarnp	T	A	10: 128,689,063 (GRCm39)	D65E	probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc16a10	C	T	10: 39,913,323 (GRCm39)	V462M	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn5	A	T	11: 82,847,973 (GRCm39)	H286L	possibly damaging	Het
Spag17	G	A	3: 100,010,661 (GRCm39)	A2052T	possibly damaging	Het
Sptbn5	A	T	2: 119,907,119 (GRCm39)		probably benign	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Trim45	T	C	3: 100,832,457 (GRCm39)	V230A	possibly damaging	Het
Ube3b	T	C	5: 114,556,635 (GRCm39)	F989L	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wdr24	A	G	17: 26,043,535 (GRCm39)	H119R	probably damaging	Het
Yars2	T	A	16: 16,124,387 (GRCm39)	H331Q	possibly damaging	Het
Zscan21	T	C	5: 138,131,522 (GRCm39)	S349P	probably benign	Het

Other mutations in Igkv3-9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02007:Igkv3-9	APN	6	70,565,445 (GRCm39)	splice site	probably benign
IGL02589:Igkv3-9	APN	6	70,565,683 (GRCm39)	missense	possibly damaging	0.90
R2509:Igkv3-9	UTSW	6	70,565,728 (GRCm39)	missense	probably benign	0.03
R4411:Igkv3-9	UTSW	6	70,565,547 (GRCm39)	missense	probably damaging	0.97
R7302:Igkv3-9	UTSW	6	70,565,739 (GRCm39)	missense	probably benign	0.01
R7487:Igkv3-9	UTSW	6	70,565,506 (GRCm39)	missense	probably damaging	0.99
R7947:Igkv3-9	UTSW	6	70,565,737 (GRCm39)	missense	probably damaging	1.00
R8532:Igkv3-9	UTSW	6	70,565,706 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGCGAAAGTGTCAGTTTTGC -3'
(R):5'- GCAGAGTCTTATGGCCTCAAG -3'

Sequencing Primer
(F):5'- GCTGGTACAAGTTTAATGCACTG -3'
(R):5'- CAGAGTCTTATGGCCTCAAGGTTTC -3'

Posted On

2016-10-05