Mutagenetix > Incidental Mutation

Incidental Mutation 'R5097:Igkv4-80'

388080

Institutional Source

Beutler Lab

Gene Symbol

Igkv4-80

Ensembl Gene

ENSMUSG00000076540

Gene Name

immunoglobulin kappa variable 4-80

Synonyms

Gm16729

MMRRC Submission

042686-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5097 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68993542-68994064 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 68993649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 81 (S81A)

Ref Sequence

ENSEMBL: ENSMUSP00000100142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103341]

AlphaFold

A0A075B5L7

Predicted Effect

probably benign
Transcript: ENSMUST00000103341
AA Change: S81A

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

SMART Domains

Protein: ENSMUSP00000100142
Gene: ENSMUSG00000076540
AA Change: S81A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	1.7e-19	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 89,840,909 (GRCm39)	V805F	probably damaging	Het
Adgrb3	G	A	1: 25,865,165 (GRCm39)	T226M	probably damaging	Het
Ak5	A	G	3: 152,187,270 (GRCm39)	S406P	probably damaging	Het
Akt3	C	G	1: 177,076,254 (GRCm39)	V12L	probably benign	Het
Arhgef40	A	C	14: 52,227,146 (GRCm39)	S397R	probably damaging	Het
Atp5f1c	A	G	2: 10,068,323 (GRCm39)	V144A	probably benign	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Clgn	G	T	8: 84,137,152 (GRCm39)	V290F	possibly damaging	Het
Dis3l	T	A	9: 64,226,498 (GRCm39)	D261V	probably damaging	Het
Dnah11	T	A	12: 117,981,435 (GRCm39)	Y2577F	probably damaging	Het
Evi5l	A	G	8: 4,243,317 (GRCm39)	E371G	probably damaging	Het
Fat2	A	G	11: 55,201,530 (GRCm39)	S515P	probably damaging	Het
Fsip2	A	G	2: 82,822,329 (GRCm39)	I6021V	probably benign	Het
Ftdc1	A	C	16: 58,434,227 (GRCm39)	N163K	probably benign	Het
Gstm5	A	T	3: 107,803,258 (GRCm39)		probably benign	Het
H2-Oa	G	A	17: 34,312,809 (GRCm39)	D29N	probably damaging	Het
Ireb2	A	G	9: 54,802,668 (GRCm39)	I434M	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Micall1	A	G	15: 79,014,078 (GRCm39)	T658A	probably benign	Het
Mitf	C	T	6: 97,973,423 (GRCm39)	A252V	possibly damaging	Het
Mpzl1	A	G	1: 165,433,285 (GRCm39)	I122T	probably damaging	Het
Mtus2	G	A	5: 148,232,392 (GRCm39)	V146I	probably damaging	Het
Myh11	C	T	16: 14,023,770 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,653,609 (GRCm39)	I486T	probably damaging	Het
N4bp2	T	C	5: 65,974,561 (GRCm39)	V1477A	probably damaging	Het
Ndc1	T	A	4: 107,231,358 (GRCm39)	S100T	probably benign	Het
Nek10	T	A	14: 14,857,851 (GRCm38)	N433K	probably benign	Het
Noc4l	C	T	5: 110,799,212 (GRCm39)	S190N	probably benign	Het
Nprl2	A	G	9: 107,420,731 (GRCm39)	E122G	probably damaging	Het
Or13a19	A	G	7: 139,903,008 (GRCm39)	Y132C	probably damaging	Het
Or1e16	G	C	11: 73,286,119 (GRCm39)	S243C	probably damaging	Het
Or6n2	C	T	1: 173,897,095 (GRCm39)	T77I	probably benign	Het
Osbpl1a	T	C	18: 12,896,594 (GRCm39)	I324V	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg3	C	T	7: 6,713,026 (GRCm39)	R732H	probably damaging	Het
Rfc4	A	G	16: 22,933,046 (GRCm39)	I297T	possibly damaging	Het
Rpl3l	T	A	17: 24,952,435 (GRCm39)	D218E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sesn2	C	T	4: 132,224,209 (GRCm39)	V400I	probably benign	Het
Syt11	C	T	3: 88,655,231 (GRCm39)	V51I	probably benign	Het
Tas2r115	A	C	6: 132,714,216 (GRCm39)	L245R	probably damaging	Het
Tmem115	G	A	9: 107,412,059 (GRCm39)	V128I	probably benign	Het
Trim47	A	G	11: 115,997,260 (GRCm39)	V499A	probably benign	Het
Trpm7	A	T	2: 126,638,256 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,687,998 (GRCm39)	D479G	probably damaging	Het
Zfp292	T	C	4: 34,839,878 (GRCm39)	T91A	possibly damaging	Het

Other mutations in Igkv4-80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Igkv4-80	APN	6	68,993,816 (GRCm39)	missense	probably benign	0.01
IGL02630:Igkv4-80	APN	6	68,993,680 (GRCm39)	nonsense	probably null
IGL02711:Igkv4-80	APN	6	68,993,801 (GRCm39)	missense	probably damaging	1.00
IGL02934:Igkv4-80	APN	6	68,993,840 (GRCm39)	missense	probably benign	0.32
R4584:Igkv4-80	UTSW	6	68,993,720 (GRCm39)	missense	probably damaging	1.00
R4873:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4875:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4925:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4934:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4991:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R4992:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5020:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5061:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5063:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5164:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5165:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5169:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5170:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5171:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5172:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5203:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5204:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5205:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5257:Igkv4-80	UTSW	6	68,993,811 (GRCm39)	missense	probably benign	0.01
R5258:Igkv4-80	UTSW	6	68,993,811 (GRCm39)	missense	probably benign	0.01
R5380:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5381:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5382:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5383:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5415:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R5416:Igkv4-80	UTSW	6	68,993,649 (GRCm39)	missense	probably benign
R6778:Igkv4-80	UTSW	6	68,993,545 (GRCm39)	nonsense	probably null
R7385:Igkv4-80	UTSW	6	68,993,699 (GRCm39)	missense	probably damaging	1.00
R7507:Igkv4-80	UTSW	6	68,993,677 (GRCm39)	missense	probably benign	0.02
R7994:Igkv4-80	UTSW	6	68,993,621 (GRCm39)	missense	probably benign	0.04
R9323:Igkv4-80	UTSW	6	68,993,751 (GRCm39)	missense	probably damaging	1.00
R9439:Igkv4-80	UTSW	6	68,993,793 (GRCm39)	missense	probably benign	0.00
R9484:Igkv4-80	UTSW	6	68,993,766 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2016-06-06