Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02214:Igkv16-104'

284800

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv16-104

Ensembl Gene

ENSMUSG00000076522

Gene Name

immunoglobulin kappa variable 16-104

Synonyms

LOC381778

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

68402589-68403056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 68402778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 24 (I24L)

Ref Sequence

ENSEMBL: ENSMUSP00000100124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103323]

AlphaFold

A0A0B4J1I1

Predicted Effect

probably benign
Transcript: ENSMUST00000103323
AA Change: I24L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100124
Gene: ENSMUSG00000076522
AA Change: I24L

Domain	Start	End	E-Value	Type
IGv	38	110	7.33e-20	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,736 (GRCm39)		probably benign	Het
A330008L17Rik	T	A	8: 100,148,390 (GRCm39)		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,032,067 (GRCm39)	L17P	unknown	Het
Abca14	A	T	7: 119,893,398 (GRCm39)	M1283L	probably benign	Het
Adarb1	A	T	10: 77,158,135 (GRCm39)	V104E	probably damaging	Het
Ano1	T	A	7: 144,209,445 (GRCm39)	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 100,930,666 (GRCm39)	S498G	probably benign	Het
Bdp1	A	G	13: 100,178,043 (GRCm39)	V1942A	probably benign	Het
Carf	T	A	1: 60,187,240 (GRCm39)	D579E	probably damaging	Het
Cltc	A	T	11: 86,623,412 (GRCm39)	S200R	probably benign	Het
Cpeb1	T	C	7: 81,021,805 (GRCm39)	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ehd3	T	A	17: 74,127,541 (GRCm39)	L158H	probably damaging	Het
Etfa	C	A	9: 55,372,095 (GRCm39)	G289W	probably damaging	Het
Fndc3c1	G	A	X: 105,469,435 (GRCm39)	T1029I	probably benign	Het
Gipr	C	A	7: 18,891,471 (GRCm39)	G402V	possibly damaging	Het
Hacd1	C	T	2: 14,031,758 (GRCm39)	V242M	probably damaging	Het
Hecw1	A	G	13: 14,474,978 (GRCm39)	L520P	probably damaging	Het
Ibtk	A	T	9: 85,596,232 (GRCm39)		probably benign	Het
Kcnh8	A	T	17: 53,184,939 (GRCm39)	Y407F	possibly damaging	Het
Mansc1	C	T	6: 134,587,323 (GRCm39)	V285M	probably benign	Het
Mindy4	A	G	6: 55,193,636 (GRCm39)	R110G	possibly damaging	Het
Morn1	C	T	4: 155,176,776 (GRCm39)	H100Y	probably damaging	Het
Naip6	A	T	13: 100,452,567 (GRCm39)	S165T	probably damaging	Het
Or13a24	A	T	7: 140,154,470 (GRCm39)	R135*	probably null	Het
Or5aq1	T	G	2: 86,965,849 (GRCm39)	K272T	probably damaging	Het
Prx	G	T	7: 27,218,337 (GRCm39)	R946M	probably damaging	Het
Ptchd1	A	G	X: 154,356,706 (GRCm39)	V833A	possibly damaging	Het
Rgl2	A	G	17: 34,154,163 (GRCm39)	D481G	probably benign	Het
Serpinb3a	A	G	1: 106,976,218 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,988,318 (GRCm39)		probably benign	Het
Slco1a7	T	A	6: 141,668,911 (GRCm39)	D507V	possibly damaging	Het
Sult1b1	C	T	5: 87,682,949 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,923,106 (GRCm39)		probably benign	Het
Trappc9	C	T	15: 72,884,731 (GRCm39)	W416*	probably null	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Ubr4	G	A	4: 139,189,138 (GRCm39)		probably null	Het
Vmn2r76	A	C	7: 85,879,138 (GRCm39)	F387L	probably benign	Het
Vps8	G	A	16: 21,336,035 (GRCm39)	C729Y	probably damaging	Het

Other mutations in Igkv16-104

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Igkv16-104	APN	6	68,402,594 (GRCm39)	missense	possibly damaging	0.60
BB009:Igkv16-104	UTSW	6	68,402,778 (GRCm39)	missense	probably benign	0.00
BB019:Igkv16-104	UTSW	6	68,402,778 (GRCm39)	missense	probably benign	0.00
R2907:Igkv16-104	UTSW	6	68,402,911 (GRCm39)	missense	probably damaging	0.98
R4688:Igkv16-104	UTSW	6	68,402,878 (GRCm39)	missense	possibly damaging	0.91
R4812:Igkv16-104	UTSW	6	68,402,829 (GRCm39)	missense	possibly damaging	0.91
R7932:Igkv16-104	UTSW	6	68,402,778 (GRCm39)	missense	probably benign	0.00
R8064:Igkv16-104	UTSW	6	68,402,875 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16