Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01798:Igkv6-23'

155421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv6-23

Ensembl Gene

ENSMUSG00000095630

Gene Name

immunoglobulin kappa variable 6-23

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

IGL01798

Quality Score

Status

Chromosome

Chromosomal Location

70237393-70237917 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70237574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 56 (Y56H)

Ref Sequence

ENSEMBL: ENSMUSP00000100187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103386]

AlphaFold

A0A140T8N5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103386
AA Change: Y56H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100187
Gene: ENSMUSG00000095630
AA Change: Y56H

Domain	Start	End	E-Value	Type
IGv	38	110	2.82e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198196

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,163,921 (GRCm39)	I818V	probably benign	Het
Adam22	A	C	5: 8,282,604 (GRCm39)		probably null	Het
Afap1	T	A	5: 36,093,026 (GRCm39)		probably null	Het
Aunip	G	T	4: 134,250,722 (GRCm39)	K222N	possibly damaging	Het
Ccnt1	A	G	15: 98,442,122 (GRCm39)	V382A	probably benign	Het
Clip1	T	C	5: 123,721,612 (GRCm39)	D1123G	probably damaging	Het
Cxcr1	T	A	1: 74,231,759 (GRCm39)	I88F	possibly damaging	Het
Duox2	A	C	2: 122,112,389 (GRCm39)	Y1266D	probably damaging	Het
Elk4	T	A	1: 131,945,592 (GRCm39)	S157T	possibly damaging	Het
Erc1	T	C	6: 119,597,298 (GRCm39)	T1004A	possibly damaging	Het
Fah	T	C	7: 84,238,837 (GRCm39)	N336S	probably benign	Het
Glg1	A	T	8: 111,919,332 (GRCm39)	S253T	possibly damaging	Het
Gm10377	A	T	14: 42,614,864 (GRCm39)	I167K	probably benign	Het
Hipk1	A	T	3: 103,668,875 (GRCm39)	I507N	probably damaging	Het
Hnf1a	T	C	5: 115,091,732 (GRCm39)	E357G	probably damaging	Het
Ighv1-22	A	T	12: 114,710,298 (GRCm39)	L10H	probably damaging	Het
Lyrm9	A	G	11: 78,728,955 (GRCm39)	I56V	probably damaging	Het
Ncam1	G	T	9: 49,419,907 (GRCm39)	T804K	probably damaging	Het
Nfu1	T	A	6: 86,992,605 (GRCm39)	I73K	probably damaging	Het
Ruvbl2	A	G	7: 45,071,587 (GRCm39)	L432P	probably damaging	Het
Tcf3	T	C	10: 80,249,043 (GRCm39)	T527A	probably benign	Het
Tle1	T	C	4: 72,055,385 (GRCm39)	D432G	probably damaging	Het

Other mutations in Igkv6-23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Igkv6-23	APN	6	70,237,922 (GRCm39)	utr 5 prime	probably benign
IGL01701:Igkv6-23	APN	6	70,237,880 (GRCm39)	missense	probably damaging	1.00
R3151:Igkv6-23	UTSW	6	70,237,543 (GRCm39)	missense	probably benign	0.04
R5012:Igkv6-23	UTSW	6	70,237,529 (GRCm39)	missense	probably damaging	0.97
R5521:Igkv6-23	UTSW	6	70,237,597 (GRCm39)	missense	probably benign	0.33
R7305:Igkv6-23	UTSW	6	70,237,553 (GRCm39)	missense	probably benign	0.29
R9260:Igkv6-23	UTSW	6	70,237,457 (GRCm39)	missense	probably damaging	1.00
R9523:Igkv6-23	UTSW	6	70,237,526 (GRCm39)	missense	probably damaging	1.00
R9680:Igkv6-23	UTSW	6	70,237,884 (GRCm39)	missense	possibly damaging	0.93

Posted On

2014-02-04