Mutagenetix > Incidental Mutation

Incidental Mutation 'R6843:Igkv4-90'

534619

Institutional Source

Beutler Lab

Gene Symbol

Igkv4-90

Ensembl Gene

ENSMUSG00000076533

Gene Name

immunoglobulin kappa chain variable 4-90

Synonyms

Gm16906

MMRRC Submission

044949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68784164-68784692 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68784670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 8 (F8S)

Ref Sequence

ENSEMBL: ENSMUSP00000100135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103334]

AlphaFold

A0A075B5L3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103334
AA Change: F8S

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100135
Gene: ENSMUSG00000076533
AA Change: F8S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	9.2e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,360 (GRCm39)	Q78L	probably benign	Het
Akr1c21	A	G	13: 4,625,213 (GRCm39)	H48R	probably damaging	Het
Anks1b	T	A	10: 90,784,460 (GRCm39)	S1143T	probably damaging	Het
Apip	T	G	2: 102,922,834 (GRCm39)	F217L	probably benign	Het
Ash1l	T	A	3: 88,892,695 (GRCm39)	Y1525N	probably damaging	Het
Bcl2l13	G	A	6: 120,825,578 (GRCm39)		probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Clk4	T	G	11: 51,167,076 (GRCm39)		probably null	Het
Cnr2	C	T	4: 135,644,900 (GRCm39)	P326L	probably benign	Het
Cryaa	A	G	17: 31,897,147 (GRCm39)	D58G	possibly damaging	Het
Crybg3	G	A	16: 59,380,159 (GRCm39)	T365M	probably benign	Het
Csmd2	A	G	4: 128,357,587 (GRCm39)	N1683D	probably benign	Het
Dbx2	T	G	15: 95,552,340 (GRCm39)	I102L	possibly damaging	Het
Dll4	A	T	2: 119,156,475 (GRCm39)		probably benign	Het
Epb42	T	A	2: 120,858,166 (GRCm39)	Y264F	possibly damaging	Het
Exoc3l	T	A	8: 106,016,729 (GRCm39)	H695L	probably benign	Het
Fhip1a	G	A	3: 85,580,352 (GRCm39)	P618S	probably damaging	Het
Ghsr	A	C	3: 27,426,676 (GRCm39)	D244A	probably benign	Het
Gm9195	A	G	14: 72,678,651 (GRCm39)	Y2268H	possibly damaging	Het
Hdac1	A	G	4: 129,436,383 (GRCm39)	Y14H	probably damaging	Het
Hdac3	A	T	18: 38,075,007 (GRCm39)	Y282N	probably benign	Het
Heg1	T	A	16: 33,539,896 (GRCm39)	N285K	probably benign	Het
Map2k1	A	T	9: 64,094,973 (GRCm39)	D336E	probably damaging	Het
Map4k2	A	T	19: 6,403,477 (GRCm39)	I796F	probably damaging	Het
Mapk13	T	A	17: 28,994,427 (GRCm39)		probably null	Het
Mprip	A	G	11: 59,650,554 (GRCm39)	I1419M	possibly damaging	Het
Nrap	T	C	19: 56,368,651 (GRCm39)	E255G	probably damaging	Het
Oprl1	A	G	2: 181,357,547 (GRCm39)	E11G	probably damaging	Het
Or1i2	T	C	10: 78,447,891 (GRCm39)	N195D	probably damaging	Het
Or4f14	T	C	2: 111,743,260 (GRCm39)	N5S	probably damaging	Het
Or52b3	A	G	7: 102,203,928 (GRCm39)	I146V	probably benign	Het
Or5b99	G	T	19: 12,976,362 (GRCm39)	C4F	probably benign	Het
Or6c209	A	G	10: 129,483,048 (GRCm39)	D17G	possibly damaging	Het
Palmd	T	A	3: 116,717,864 (GRCm39)	D211V	probably damaging	Het
Pcdhga11	A	G	18: 37,889,378 (GRCm39)	N129D	probably damaging	Het
Plekha6	T	A	1: 133,202,616 (GRCm39)	M359K	probably damaging	Het
Plekha7	G	T	7: 115,742,555 (GRCm39)	H756Q	probably benign	Het
Ppfibp2	C	T	7: 107,326,938 (GRCm39)	P441S	probably benign	Het
Ptprk	T	C	10: 28,467,978 (GRCm39)	I1373T	possibly damaging	Het
Serpinb9g	G	T	13: 33,676,900 (GRCm39)	L227F	probably damaging	Het
Snapc4	C	A	2: 26,263,611 (GRCm39)	A11S	probably benign	Het
Sqor	T	C	2: 122,626,900 (GRCm39)	V7A	probably benign	Het
Sqor	G	T	2: 122,651,215 (GRCm39)	G437V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
Stx1b	G	A	7: 127,414,151 (GRCm39)	Q72*	probably null	Het
Syt7	A	G	19: 10,399,135 (GRCm39)	D77G	probably damaging	Het
Tvp23a	G	A	16: 10,264,884 (GRCm39)	A9V	probably benign	Het
Vmn1r66	T	A	7: 10,008,692 (GRCm39)	I114F	probably damaging	Het
Vmn2r80	C	A	10: 79,005,502 (GRCm39)	Q380K	probably benign	Het
Xdh	C	T	17: 74,230,125 (GRCm39)	E269K	probably damaging	Het
Zfp932	T	C	5: 110,156,581 (GRCm39)	M92T	probably benign	Het

Other mutations in Igkv4-90

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03154:Igkv4-90	APN	6	68,784,256 (GRCm39)	missense	probably damaging	0.97
R3729:Igkv4-90	UTSW	6	68,784,665 (GRCm39)	missense	probably benign	0.43
R4259:Igkv4-90	UTSW	6	68,784,461 (GRCm39)	missense	possibly damaging	0.60
R5873:Igkv4-90	UTSW	6	68,784,453 (GRCm39)	missense	probably benign	0.00
R9250:Igkv4-90	UTSW	6	68,784,331 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGAGCAAAATTTCTCCATTGG -3'
(R):5'- CCGGTTTGCCTTAGTTAACAGAC -3'

Sequencing Primer
(F):5'- GCAAAATTTCTCCATTGGTCAATATG -3'
(R):5'- ACAGACCATGTATTTAAAAGCCAAG -3'

Posted On

2018-09-12