Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02293:Igkv4-71'

290097

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-71

Ensembl Gene

ENSMUSG00000073028

Gene Name

immunoglobulin kappa chain variable 4-71

Synonyms

Gm16730

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

IGL02293

Quality Score

Status

Chromosome

Chromosomal Location

69220144-69220672 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69220306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 42 (S42A)

Ref Sequence

ENSEMBL: ENSMUSP00000100575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101325] [ENSMUST00000196201]

AlphaFold

L7N239

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101325
AA Change: S42A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100575
Gene: ENSMUSG00000073028
AA Change: S42A

Domain	Start	End	E-Value	Type
IGv	18	89	2.98e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196201
AA Change: S64A

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142768
Gene: ENSMUSG00000073028
AA Change: S64A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	1.2e-22	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,340 (GRCm39)	K135R	probably benign	Het
Ahdc1	C	T	4: 132,792,929 (GRCm39)	A1390V	possibly damaging	Het
Aldh1a2	A	G	9: 71,192,559 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,162,736 (GRCm39)	L866H	probably damaging	Het
C6	T	A	15: 4,784,785 (GRCm39)	I217K	probably benign	Het
Ccr1l1	G	A	9: 123,777,973 (GRCm39)	T158I	possibly damaging	Het
Dnah6	A	T	6: 73,110,633 (GRCm39)		probably benign	Het
Ect2l	A	G	10: 18,016,259 (GRCm39)		probably null	Het
Eif1ad11	A	G	12: 87,994,033 (GRCm39)	N87S	probably benign	Het
Endov	T	C	11: 119,395,999 (GRCm39)		probably benign	Het
Fpr-rs7	A	G	17: 20,334,232 (GRCm39)	V86A	probably benign	Het
Gle1	A	G	2: 29,847,772 (GRCm39)	I660V	probably benign	Het
Hk2	A	T	6: 82,720,956 (GRCm39)	D159E	probably benign	Het
Hmcn1	A	G	1: 150,540,666 (GRCm39)	V2881A	probably damaging	Het
Hspa14	T	C	2: 3,512,071 (GRCm39)	K68E	probably damaging	Het
Ifi207	A	T	1: 173,551,314 (GRCm39)	I974N	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klhl32	A	G	4: 24,626,935 (GRCm39)	Y555H	probably damaging	Het
Lmbrd2	T	C	15: 9,172,276 (GRCm39)	S357P	probably benign	Het
Mfsd1	T	A	3: 67,505,425 (GRCm39)	V380D	probably damaging	Het
Ndc80	A	G	17: 71,821,273 (GRCm39)	F225S	probably damaging	Het
Or2ak7	T	C	11: 58,574,996 (GRCm39)	V99A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Plxnd1	A	G	6: 115,940,874 (GRCm39)	V1355A	probably damaging	Het
Prkd1	A	G	12: 50,536,761 (GRCm39)	S108P	probably damaging	Het
Ptges3	C	T	10: 127,911,204 (GRCm39)		probably benign	Het
Rabggta	G	T	14: 55,959,153 (GRCm39)	L5M	probably benign	Het
Rag1	C	T	2: 101,473,391 (GRCm39)	D584N	probably benign	Het
Rasl12	A	G	9: 65,315,593 (GRCm39)	D79G	probably benign	Het
Rhoj	A	G	12: 75,422,186 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,666,268 (GRCm39)	L483P	probably benign	Het

Other mutations in Igkv4-71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Igkv4-71	APN	6	69,220,264 (GRCm39)	nonsense	probably null
IGL03099:Igkv4-71	APN	6	69,220,399 (GRCm39)	missense	probably benign	0.01
R0501:Igkv4-71	UTSW	6	69,220,290 (GRCm39)	missense	probably damaging	1.00
R0556:Igkv4-71	UTSW	6	69,220,171 (GRCm39)	missense	probably damaging	1.00
R0675:Igkv4-71	UTSW	6	69,220,411 (GRCm39)	missense	probably damaging	1.00
R8354:Igkv4-71	UTSW	6	69,220,260 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16