Mutagenetix > Incidental Mutation

Incidental Mutation 'R5012:Igkv6-23'

390570

Institutional Source

Beutler Lab

Gene Symbol

Igkv6-23

Ensembl Gene

ENSMUSG00000095630

Gene Name

immunoglobulin kappa variable 6-23

Synonyms

MMRRC Submission

042603-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R5012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70237393-70237917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70237529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 71 (A71S)

Ref Sequence

ENSEMBL: ENSMUSP00000100187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103386]

AlphaFold

A0A140T8N5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103386
AA Change: A71S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100187
Gene: ENSMUSG00000095630
AA Change: A71S

Domain	Start	End	E-Value	Type
IGv	38	110	2.82e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198196

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.9%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,767,217 (GRCm39)	T268K	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Acsl1	A	G	8: 46,974,468 (GRCm39)	S314G	probably benign	Het
Aftph	G	A	11: 20,648,264 (GRCm39)		probably benign	Het
Ankrd34c	T	G	9: 89,611,709 (GRCm39)	I211L	probably benign	Het
Anks1b	A	G	10: 90,194,999 (GRCm39)	T560A	probably benign	Het
Carmil1	G	T	13: 24,208,403 (GRCm39)	S1247R	possibly damaging	Het
Elf1	T	A	14: 79,808,174 (GRCm39)	Y172N	probably damaging	Het
Emx1	C	T	6: 85,180,955 (GRCm39)	P224L	probably benign	Het
Fastkd2	A	T	1: 63,789,055 (GRCm39)		probably benign	Het
Fbxw27	C	A	9: 109,602,271 (GRCm39)	C234F	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,226,143 (GRCm39)	L2510P	probably damaging	Het
Itgal	T	C	7: 126,898,802 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,504,710 (GRCm39)	G122*	probably null	Het
Lamtor2	C	T	3: 88,460,163 (GRCm39)	R3H	possibly damaging	Het
Magi2	A	T	5: 20,670,618 (GRCm39)	T321S	probably damaging	Het
Mau2	A	G	8: 70,484,107 (GRCm39)		probably null	Het
Mcm7	A	T	5: 138,167,609 (GRCm39)		probably null	Het
Mitd1	A	T	1: 37,924,374 (GRCm39)	C59S	probably benign	Het
Muc6	A	G	7: 141,216,570 (GRCm39)	L2636P	possibly damaging	Het
Paip1	A	G	13: 119,584,338 (GRCm39)	M233V	probably benign	Het
Pcdhb11	C	A	18: 37,556,029 (GRCm39)	T453N	possibly damaging	Het
Plcb1	A	G	2: 135,175,320 (GRCm39)	N545S	probably null	Het
Prl8a9	A	T	13: 27,746,594 (GRCm39)		probably null	Het
Psmc2	A	G	5: 22,007,563 (GRCm39)	T308A	probably benign	Het
Rassf2	C	A	2: 131,851,610 (GRCm39)	R44L	probably damaging	Het
Scn11a	A	T	9: 119,609,944 (GRCm39)	M968K	probably benign	Het
Septin4	T	A	11: 87,475,230 (GRCm39)	S146T	possibly damaging	Het
Slc41a2	A	G	10: 83,137,127 (GRCm39)	I260T	probably benign	Het
Steap2	G	C	5: 5,727,784 (GRCm39)	L184V	possibly damaging	Het
Ttll5	G	A	12: 85,973,618 (GRCm39)	E776K	possibly damaging	Het
Vipr1	A	T	9: 121,487,111 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,448 (GRCm39)	S201P	probably damaging	Het
Zfp386	T	A	12: 116,022,864 (GRCm39)	I194K	probably benign	Het
Zfp988	A	G	4: 147,416,060 (GRCm39)	I165V	probably benign	Het

Other mutations in Igkv6-23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Igkv6-23	APN	6	70,237,922 (GRCm39)	utr 5 prime	probably benign
IGL01701:Igkv6-23	APN	6	70,237,880 (GRCm39)	missense	probably damaging	1.00
IGL01798:Igkv6-23	APN	6	70,237,574 (GRCm39)	missense	probably damaging	1.00
R3151:Igkv6-23	UTSW	6	70,237,543 (GRCm39)	missense	probably benign	0.04
R5521:Igkv6-23	UTSW	6	70,237,597 (GRCm39)	missense	probably benign	0.33
R7305:Igkv6-23	UTSW	6	70,237,553 (GRCm39)	missense	probably benign	0.29
R9260:Igkv6-23	UTSW	6	70,237,457 (GRCm39)	missense	probably damaging	1.00
R9523:Igkv6-23	UTSW	6	70,237,526 (GRCm39)	missense	probably damaging	1.00
R9680:Igkv6-23	UTSW	6	70,237,884 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGCAACACACAGGCATAGC -3'
(R):5'- TTGCAGGTGTTGAAGGAGAC -3'

Sequencing Primer
(F):5'- CAGGCAGCTGGTTAGAATCTC -3'
(R):5'- GAGACATTGTGATGACCCAGTCTC -3'

Posted On

2016-06-06