Mutagenetix > Incidental Mutation

Incidental Mutation 'R8056:Igkv8-26'

619375

Institutional Source

Beutler Lab

Gene Symbol

Igkv8-26

Ensembl Gene

ENSMUSG00000076581

Gene Name

immunoglobulin kappa variable 8-26

Synonyms

Gm16945

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R8056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70193228-70193797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70193722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 99 (L99H)

Ref Sequence

ENSEMBL: ENSMUSP00000100183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103382]

AlphaFold

A0A075B5N5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103382
AA Change: L99H

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

SMART Domains

Protein: ENSMUSP00000100183
Gene: ENSMUSG00000076581
AA Change: L99H

Domain	Start	End	E-Value	Type
IGv	38	116	1.28e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,266,224	C438R	probably damaging	Het
2900011O08Rik	T	A	16: 14,038,316		probably benign	Het
9930111J21Rik2	T	C	11: 49,020,082	E508G	probably benign	Het
Acsl3	C	T	1: 78,681,894	L88F	probably damaging	Het
Adamtsl1	C	T	4: 86,342,032	P835S	possibly damaging	Het
Agrn	A	G	4: 156,170,411	V1616A	probably benign	Het
Brca2	T	C	5: 150,569,306	V3262A	possibly damaging	Het
Bsn	T	C	9: 108,105,307	D977G		Het
Cic	G	T	7: 25,290,941	A1956S	possibly damaging	Het
Clip4	C	A	17: 71,803,592	T189K	probably damaging	Het
Col12a1	T	C	9: 79,599,938	E279G		Het
Col24a1	A	C	3: 145,314,164	I99L	possibly damaging	Het
Cpne3	A	G	4: 19,532,426	V329A	possibly damaging	Het
Cyp17a1	T	C	19: 46,670,591	I204V	possibly damaging	Het
Cyp2c66	A	G	19: 39,142,041	I107V	probably benign	Het
Dennd4c	A	G	4: 86,844,976	R1840G	probably null	Het
Dhx36	A	T	3: 62,488,591	L465Q	possibly damaging	Het
Edc4	A	G	8: 105,890,484		probably benign	Het
Fam133b	A	T	5: 3,565,744	R215S	unknown	Het
Fbxo18	G	A	2: 11,743,630	T985I	probably benign	Het
Fras1	A	G	5: 96,744,774	D2911G	probably damaging	Het
Gm11639	A	G	11: 104,909,070	T2931A	probably damaging	Het
Gm13889	A	T	2: 93,956,675	D151E	probably damaging	Het
Gosr2	C	A	11: 103,697,704		probably benign	Het
Kif16b	A	G	2: 142,712,842	F679L	probably damaging	Het
Kif1a	G	C	1: 93,054,701		probably benign	Het
Kif3b	G	C	2: 153,330,059	R716S	possibly damaging	Het
Lilra6	A	T	7: 3,912,552	C395S	probably damaging	Het
Lrp5	A	G	19: 3,597,337	F1302L	probably damaging	Het
Map2	T	G	1: 66,415,620	V1223G	probably damaging	Het
Mical1	T	A	10: 41,481,172	N324K	probably damaging	Het
Morc3	T	A	16: 93,845,176	H94Q	probably benign	Het
Mpped1	T	C	15: 83,836,462	V199A	possibly damaging	Het
Msx1	G	A	5: 37,824,200	T45I	probably benign	Het
Myh7	G	A	14: 54,973,319	Q1714*	probably null	Het
Narf	T	C	11: 121,245,344	V182A	possibly damaging	Het
Ncapd2	G	A	6: 125,171,043	T1107M	probably damaging	Het
Nek3	A	G	8: 22,129,343		probably null	Het
Neurog1	G	T	13: 56,251,410	P175T	probably damaging	Het
Nlrp9c	T	C	7: 26,385,687	T156A	probably damaging	Het
Olfr1377	T	A	11: 50,985,541	V280E	probably damaging	Het
Olfr434	A	T	6: 43,217,044	I44F	probably damaging	Het
Olfr788	G	A	10: 129,473,192	A167T	probably benign	Het
Orm3	A	G	4: 63,359,357	E194G	probably benign	Het
Pga5	A	C	19: 10,676,797		probably benign	Het
Pik3r2	G	T	8: 70,772,367	P151T	probably benign	Het
Pkp2	T	C	16: 16,213,400	C10R	probably benign	Het
Plxdc1	T	A	11: 97,978,517	R82W	probably damaging	Het
Polr2c	G	A	8: 94,860,267	A54T	probably benign	Het
Rab31	T	C	17: 65,717,508	I59V	probably benign	Het
Rasgrf2	T	C	13: 92,030,813	M251V	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Rfc1	A	C	5: 65,294,093		probably benign	Het
Rhag	T	C	17: 40,828,788	I137T	probably damaging	Het
Rnf216	T	C	5: 142,992,861	M841V	probably benign	Het
Scaf11	C	A	15: 96,414,817	E1448*	probably null	Het
Sept11	T	C	5: 93,167,576	L388P	unknown	Het
Serpina1b	A	T	12: 103,817,878		probably benign	Het
Skint10	A	G	4: 112,715,813	I262T	probably benign	Het
Slc13a4	C	T	6: 35,268,952	G586E	probably damaging	Het
Slc8a1	C	T	17: 81,647,923	G562E	probably damaging	Het
Slc8b1	T	A	5: 120,520,617	L126Q	probably damaging	Het
Smg1	A	G	7: 118,160,366	Y2086H	unknown	Het
Taf1c	A	T	8: 119,603,463	D47E	probably benign	Het
Tbx5	A	C	5: 119,853,613	M250L	probably benign	Het
Tekt3	T	C	11: 63,083,959		probably null	Het
Tex43	A	G	18: 56,594,691	N79S		Het
Topors	T	C	4: 40,262,221	I354M	probably benign	Het
Ttn	C	A	2: 76,948,230	G1309V	unknown	Het
Ttyh1	C	T	7: 4,124,623		probably benign	Het
Ubac1	A	G	2: 26,007,897	I237T	probably benign	Het
Vmn1r197	T	A	13: 22,328,218	V103D	probably damaging	Het
Zfp184	T	C	13: 21,958,838	F238S	probably damaging	Het
Zfp445	A	G	9: 122,851,967	F970L	possibly damaging	Het
Zfp90	A	T	8: 106,424,480	E275V	probably damaging	Het
Zscan12	C	G	13: 21,369,322	Q439E	probably benign	Het

Other mutations in Igkv8-26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02637:Igkv8-26	APN	6	70193658	missense	probably damaging	1.00
R4083:Igkv8-26	UTSW	6	70193563	missense	probably damaging	1.00
R4250:Igkv8-26	UTSW	6	70193246	missense	probably benign	0.07
R7599:Igkv8-26	UTSW	6	70193587	missense	probably benign	0.13
R8998:Igkv8-26	UTSW	6	70193530	missense	probably benign	0.39
R8999:Igkv8-26	UTSW	6	70193530	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TGAGCTGCAAGTCCAGTCAG -3'
(R):5'- AAAGTGTCATTGAACAGATGCC -3'

Sequencing Primer
(F):5'- CTGCAAGTCCAGTCAGAGTCTTTTG -3'
(R):5'- TCAGGCATGCTAGGTCTCAG -3'

Posted On

2020-01-23