Mutagenetix > Incidental Mutations

Incidental Mutation 'R5170:Igkv4-80'

397498

Institutional Source

Beutler Lab

Gene Symbol

Igkv4-80

Ensembl Gene

ENSMUSG00000076540

Gene Name

immunoglobulin kappa variable 4-80

Synonyms

Gm16729

MMRRC Submission

042750-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R5170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69016560-69017080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69016665 bp

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]

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: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,588,625	I51V	probably benign	Het
Agbl2	A	G	2: 90,803,197	K559R	probably benign	Het
Arhgap30	A	G	1: 171,408,050	D664G	probably benign	Het
BC034090	A	G	1: 155,213,650	V798A	probably damaging	Het
Bdp1	A	T	13: 100,030,794	C2237*	probably null	Het
C3	C	T	17: 57,223,938	V388M	probably damaging	Het
Ccdc170	G	A	10: 4,514,200	E60K	probably damaging	Het
Cdh8	G	A	8: 99,279,550	T135M	probably damaging	Het
Cep131	G	T	11: 120,070,609	A572E	probably damaging	Het
Clec16a	A	G	16: 10,741,791	Y976C	probably benign	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Eno3	A	G	11: 70,662,214	I393V	probably benign	Het
Fbxo47	A	G	11: 97,857,694	V305A	probably benign	Het
Fry	G	A	5: 150,429,854	V1779M	probably benign	Het
Gm15293	A	T	8: 21,201,680	D26V	probably damaging	Het
Gtse1	T	C	15: 85,864,264		probably null	Het
Gucy2e	A	T	11: 69,235,570	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,730,498	T225A	unknown	Het
Lamc3	A	T	2: 31,887,344	M1L	probably benign	Het
Lman1l	G	A	9: 57,615,619	R153*	probably null	Het
Myo16	A	G	8: 10,569,745	D1432G	probably benign	Het
Nwd2	A	T	5: 63,806,037	N988I	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Parp14	T	C	16: 35,857,279	E773G	probably benign	Het
Psen1	T	A	12: 83,714,862	M146K	probably damaging	Het
Ptx4	G	A	17: 25,123,178	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,400,808	T340A	probably damaging	Het
St8sia1	T	C	6: 142,963,708	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,794,674	D581G	probably benign	Het
Sumo2	G	A	11: 115,534,660		probably benign	Het
Supt5	G	A	7: 28,316,083	P910S	probably benign	Het
Tbc1d30	T	C	10: 121,306,838	Q158R	possibly damaging	Het
Tenm2	T	A	11: 36,024,806	H1968L	probably damaging	Het
Trmt1	T	C	8: 84,695,232	Y220H	probably damaging	Het
Trp73	C	T	4: 154,104,838	E60K	possibly damaging	Het
Ttn	A	G	2: 76,787,069	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,517,585		probably null	Het
Zfp740	T	C	15: 102,209,205	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,812,957		probably benign	Het
Zp1	C	A	19: 10,920,554	V8F	possibly damaging	Het

Other mutations in Igkv4-80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Igkv4-80	APN	6	69016832	missense	probably benign	0.01
IGL02630:Igkv4-80	APN	6	69016696	nonsense	probably null
IGL02711:Igkv4-80	APN	6	69016817	missense	probably damaging	1.00
IGL02934:Igkv4-80	APN	6	69016856	missense	probably benign	0.32
R4584:Igkv4-80	UTSW	6	69016736	missense	probably damaging	1.00
R4873:Igkv4-80	UTSW	6	69016665	missense	probably benign
R4875:Igkv4-80	UTSW	6	69016665	missense	probably benign
R4925:Igkv4-80	UTSW	6	69016665	missense	probably benign
R4934:Igkv4-80	UTSW	6	69016665	missense	probably benign
R4991:Igkv4-80	UTSW	6	69016665	missense	probably benign
R4992:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5020:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5061:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5063:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5097:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5164:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5165:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5169:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5171:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5172:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5203:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5204:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5205:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5257:Igkv4-80	UTSW	6	69016827	missense	probably benign	0.01
R5258:Igkv4-80	UTSW	6	69016827	missense	probably benign	0.01
R5380:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5381:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5382:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5383:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5415:Igkv4-80	UTSW	6	69016665	missense	probably benign
R5416:Igkv4-80	UTSW	6	69016665	missense	probably benign
R6778:Igkv4-80	UTSW	6	69016561	nonsense	probably null
R7385:Igkv4-80	UTSW	6	69016715	missense	probably damaging	1.00
R7507:Igkv4-80	UTSW	6	69016693	missense	probably benign	0.02
R7994:Igkv4-80	UTSW	6	69016637	missense	probably benign	0.04

Predicted Primers

Posted On

2016-07-06