Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03137:Igkv1-122'

410559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv1-122

Ensembl Gene

ENSMUSG00000095497

Gene Name

immunoglobulin kappa chain variable 1-122

Synonyms

Gm16798

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03137

Quality Score

Status

Chromosome

Chromosomal Location

67993726-67994472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67994400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 96 (T96K)

Ref Sequence

ENSEMBL: ENSMUSP00000100115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103314]

AlphaFold

A0A140T8M9

Predicted Effect

probably damaging
Transcript: ENSMUST00000103314
AA Change: T96K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100115
Gene: ENSMUSG00000095497
AA Change: T96K

Domain	Start	End	E-Value	Type
IGv	37	114	7.51e-17	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankub1	T	C	3: 57,597,778 (GRCm39)	D64G	probably damaging	Het
Apobec2	C	T	17: 48,730,303 (GRCm39)	W121*	probably null	Het
Arid2	A	G	15: 96,269,199 (GRCm39)	N1104S	probably benign	Het
Bltp1	T	A	3: 37,088,751 (GRCm39)	M569K	probably damaging	Het
Brap	T	C	5: 121,803,156 (GRCm39)		probably benign	Het
Cilp	A	C	9: 65,185,450 (GRCm39)	N515T	probably benign	Het
Cpeb2	T	A	5: 43,419,067 (GRCm39)		probably benign	Het
Creb1	C	T	1: 64,615,374 (GRCm39)	T242I	possibly damaging	Het
Ddx60	T	C	8: 62,441,117 (GRCm39)	V1062A	possibly damaging	Het
Dock8	A	G	19: 25,133,312 (GRCm39)	E1153G	probably benign	Het
Gk5	A	G	9: 96,058,345 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,552,817 (GRCm39)	N60K	probably benign	Het
Hmcn2	T	A	2: 31,252,242 (GRCm39)	V904D	probably damaging	Het
Hnmt	T	A	2: 23,938,751 (GRCm39)	H29L	probably damaging	Het
Hsf1	A	G	15: 76,380,649 (GRCm39)		probably benign	Het
Iyd	T	C	10: 3,501,987 (GRCm39)	I211T	probably damaging	Het
Kcnn1	G	T	8: 71,303,381 (GRCm39)	H34N	probably damaging	Het
Krtap5-3	G	T	7: 141,755,946 (GRCm39)		probably benign	Het
Map3k19	C	T	1: 127,752,052 (GRCm39)	R433K	probably benign	Het
Mss51	A	C	14: 20,537,200 (GRCm39)	C89W	probably damaging	Het
Myh9	A	T	15: 77,675,289 (GRCm39)	I276N	probably damaging	Het
Myof	T	C	19: 37,963,337 (GRCm39)	E420G	probably damaging	Het
Nfatc2ip	C	A	7: 125,989,740 (GRCm39)	V215L	possibly damaging	Het
Or10ag52	A	T	2: 87,043,500 (GRCm39)	Y88F	probably benign	Het
Or51m1	T	C	7: 103,578,801 (GRCm39)	M257T	probably benign	Het
Or5d18	G	A	2: 87,864,754 (GRCm39)	A243V	probably benign	Het
Pcdhb4	T	C	18: 37,441,569 (GRCm39)	I293T	probably damaging	Het
Pdcd6ip	A	G	9: 113,486,213 (GRCm39)	S729P	possibly damaging	Het
Pick1	C	A	15: 79,129,501 (GRCm39)	H169N	possibly damaging	Het
Ppp4r4	A	C	12: 103,547,643 (GRCm39)	K212T	probably damaging	Het
Racgap1	A	G	15: 99,526,622 (GRCm39)	S314P	probably damaging	Het
Rasef	C	A	4: 73,652,720 (GRCm39)	E594*	probably null	Het
Ryr3	T	G	2: 112,740,742 (GRCm39)	K522Q	probably benign	Het
Shoc1	G	T	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Six5	T	C	7: 18,831,072 (GRCm39)		probably benign	Het
Slc26a9	G	T	1: 131,691,615 (GRCm39)	E619D	probably benign	Het
Sqor	A	G	2: 122,649,991 (GRCm39)	I412V	probably benign	Het
Srrt	T	A	5: 137,294,379 (GRCm39)		probably benign	Het
Sult1e1	C	T	5: 87,726,475 (GRCm39)	R213K	probably benign	Het
Tmc2	T	A	2: 130,082,050 (GRCm39)	L411H	probably damaging	Het
Tmem63b	T	A	17: 45,975,921 (GRCm39)	N511Y	probably damaging	Het
Ucp3	T	A	7: 100,131,969 (GRCm39)		probably benign	Het
Vmn1r201	A	T	13: 22,658,974 (GRCm39)	I63F	probably benign	Het
Vps13c	G	T	9: 67,797,662 (GRCm39)	L522F	probably damaging	Het
Wwp1	T	A	4: 19,678,408 (GRCm39)	T3S	probably damaging	Het
Zc3hav1	A	G	6: 38,309,329 (GRCm39)	S498P	probably benign	Het

Other mutations in Igkv1-122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Igkv1-122	APN	6	67,994,178 (GRCm39)	missense	probably benign	0.05
IGL01646:Igkv1-122	APN	6	67,993,728 (GRCm39)	start codon destroyed	probably null	0.72
IGL01748:Igkv1-122	APN	6	67,994,456 (GRCm39)	missense	possibly damaging	0.72
R4583:Igkv1-122	UTSW	6	67,994,442 (GRCm39)	missense	probably benign	0.05
R9358:Igkv1-122	UTSW	6	67,993,756 (GRCm39)	missense	probably benign	0.00
R9502:Igkv1-122	UTSW	6	67,994,348 (GRCm39)	missense	probably benign	0.10

Posted On

2016-08-02