Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Igkv9-120'

366328

Institutional Source

Beutler Lab

Gene Symbol

Igkv9-120

Ensembl Gene

ENSMUSG00000094872

Gene Name

immunoglobulin kappa chain variable 9-120

Synonyms

Gm5571

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68026967-68027438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68027351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 88 (R88S)

Ref Sequence

ENSEMBL: ENSMUSP00000100117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103316]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103316
AA Change: R88S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100117
Gene: ENSMUSG00000094872
AA Change: R88S

Domain	Start	End	E-Value	Type
IGv	40	112	9.99e-13	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,382,174 (GRCm39)	S1264A	probably benign	Het
Adamts13	T	G	2: 26,898,723 (GRCm39)	Y1361*	probably null	Het
Ahrr	A	T	13: 74,362,331 (GRCm39)	D389E	probably damaging	Het
Alx3	T	C	3: 107,508,007 (GRCm39)	F172S	probably damaging	Het
Antxrl	A	G	14: 33,795,027 (GRCm39)	H485R	possibly damaging	Het
Aox4	A	G	1: 58,298,307 (GRCm39)	D1091G	probably null	Het
Btbd1	T	A	7: 81,455,558 (GRCm39)	Q271L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdc14a	C	T	3: 116,088,399 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,953,912 (GRCm39)	M1641V	probably benign	Het
Clec2e	G	A	6: 129,077,790 (GRCm39)	T16I	probably benign	Het
Clp1	T	C	2: 84,556,219 (GRCm39)	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,337,444 (GRCm39)	F517I	probably damaging	Het
Dzip3	T	C	16: 48,758,837 (GRCm39)	N646S	probably damaging	Het
Ephx1	T	A	1: 180,823,543 (GRCm39)	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,403,051 (GRCm39)	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,368,571 (GRCm39)	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,868,411 (GRCm39)		probably null	Het
Ift81	G	T	5: 122,732,656 (GRCm39)	H293N	probably benign	Het
Il6	T	G	5: 30,223,076 (GRCm39)	L114*	probably null	Het
Ism2	A	T	12: 87,346,355 (GRCm39)	M42K	probably benign	Het
Lhx5	A	G	5: 120,574,503 (GRCm39)	E269G	probably benign	Het
Marveld1	T	G	19: 42,136,434 (GRCm39)	M116R	possibly damaging	Het
Micall2	A	G	5: 139,692,641 (GRCm39)	S911P	probably damaging	Het
Mier1	G	A	4: 102,997,417 (GRCm39)	R195H	probably benign	Het
Muc2	T	A	7: 141,286,260 (GRCm39)		probably null	Het
Mybbp1a	A	G	11: 72,336,466 (GRCm39)	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,162,708 (GRCm39)	L179R	probably damaging	Het
Nos1	C	T	5: 118,081,310 (GRCm39)	Q1171*	probably null	Het
Nrg1	T	A	8: 32,408,000 (GRCm39)	I78F	probably damaging	Het
Or5d36	T	G	2: 87,901,073 (GRCm39)	T218P	probably benign	Het
Or6y1	T	G	1: 174,276,524 (GRCm39)	F112V	possibly damaging	Het
Plek2	C	T	12: 78,953,664 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,477,325 (GRCm39)	H339R	probably damaging	Het
Pold1	C	T	7: 44,184,495 (GRCm39)	C835Y	probably damaging	Het
Polr1a	A	G	6: 71,927,852 (GRCm39)	I868V	probably benign	Het
Prss54	C	A	8: 96,286,003 (GRCm39)	V357L	probably benign	Het
Rbbp8	T	A	18: 11,855,727 (GRCm39)	S625T	probably damaging	Het
Rgs1	A	T	1: 144,123,667 (GRCm39)	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,545,262 (GRCm39)	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,325,429 (GRCm39)	L1011F	probably damaging	Het
Slc19a3	G	A	1: 82,997,062 (GRCm39)	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,765,534 (GRCm39)	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991 (GRCm38)	L537Q	probably damaging	Het
Trim45	C	A	3: 100,839,050 (GRCm39)		probably benign	Het
Umodl1	G	T	17: 31,202,976 (GRCm39)	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,114,597 (GRCm39)	R87K	probably damaging	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Zeb2	T	G	2: 44,886,447 (GRCm39)	E825A	probably damaging	Het
Zfp930	A	T	8: 69,679,344 (GRCm39)	I50F	probably benign	Het

Other mutations in Igkv9-120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Igkv9-120	APN	6	68,026,971 (GRCm39)	missense	possibly damaging	0.67
IGL02248:Igkv9-120	APN	6	68,027,221 (GRCm39)	missense	probably damaging	1.00
IGL02410:Igkv9-120	APN	6	68,027,027 (GRCm39)	splice site	probably benign
IGL03093:Igkv9-120	APN	6	68,027,398 (GRCm39)	missense	probably damaging	1.00
R2847:Igkv9-120	UTSW	6	68,027,128 (GRCm39)	splice site	probably benign
R2848:Igkv9-120	UTSW	6	68,027,128 (GRCm39)	splice site	probably benign
R3749:Igkv9-120	UTSW	6	68,026,985 (GRCm39)	missense	probably benign	0.04
R3889:Igkv9-120	UTSW	6	68,027,362 (GRCm39)	missense	probably damaging	1.00
R4235:Igkv9-120	UTSW	6	68,027,317 (GRCm39)	missense	probably benign
R4270:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4760:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4767:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R4768:Igkv9-120	UTSW	6	68,027,351 (GRCm39)	missense	possibly damaging	0.46
R5365:Igkv9-120	UTSW	6	68,027,433 (GRCm39)	missense	probably benign	0.00
R5671:Igkv9-120	UTSW	6	68,027,257 (GRCm39)	nonsense	probably null
R7749:Igkv9-120	UTSW	6	68,027,172 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGACCCAGTCTCCATCCTC -3'
(R):5'- AGAGAGACCTGTTCCATCTGAG -3'

Sequencing Primer
(F):5'- TCCTTATCTGCCTCTCTGGG -3'
(R):5'- GAGACCTGTTCCATCTGAGAAATTC -3'

Posted On

2015-12-21