Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01388:Igkv8-21'

79110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv8-21

Ensembl Gene

ENSMUSG00000076586

Gene Name

immunoglobulin kappa variable 8-21

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01388

Quality Score

Status

Chromosome

Chromosomal Location

70291879-70292436 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70292153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 30 (S30P)

Ref Sequence

ENSEMBL: ENSMUSP00000100188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103387]

AlphaFold

A0A140T8P7

Predicted Effect

probably benign
Transcript: ENSMUST00000103387
AA Change: S30P

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100188
Gene: ENSMUSG00000076586
AA Change: S30P

Domain	Start	End	E-Value	Type
IGv	38	116	6.58e-22	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	T	G	17: 68,160,034 (GRCm39)		probably benign	Het
Ces2b	A	C	8: 105,561,236 (GRCm39)		probably benign	Het
Col20a1	T	A	2: 180,645,264 (GRCm39)	M924K	probably benign	Het
Commd4	G	A	9: 57,063,273 (GRCm39)		probably benign	Het
Ctnna3	A	G	10: 63,339,886 (GRCm39)	E24G	possibly damaging	Het
Cyp2a22	C	T	7: 26,637,217 (GRCm39)	R189H	probably benign	Het
Gapdhrt	T	C	14: 11,281,836 (GRCm38)	D33G	probably damaging	Het
Gm20426	T	C	6: 90,155,694 (GRCm39)		probably benign	Het
Gm6802	T	G	12: 19,540,546 (GRCm39)		noncoding transcript	Het
Lig4	A	G	8: 10,023,586 (GRCm39)	Y65H	probably damaging	Het
Mpzl1	T	C	1: 165,433,336 (GRCm39)	D105G	probably benign	Het
Myo10	A	G	15: 25,736,703 (GRCm39)	I451V	possibly damaging	Het
Nos2	G	T	11: 78,848,278 (GRCm39)	V1062L	probably damaging	Het
Oas2	A	G	5: 120,886,657 (GRCm39)	S170P	probably damaging	Het
Or1j19	G	T	2: 36,677,367 (GRCm39)	V277L	probably benign	Het
Or5w11	T	A	2: 87,458,973 (GRCm39)	H55Q	probably benign	Het
Or8b3b	A	T	9: 38,584,379 (GRCm39)	Y120*	probably null	Het
Or8g37	A	G	9: 39,731,298 (GRCm39)	D121G	probably damaging	Het
Pcdh7	T	C	5: 57,877,546 (GRCm39)	L367P	probably damaging	Het
Pde3a	A	G	6: 141,405,464 (GRCm39)	T439A	probably damaging	Het
Plekhm2	T	C	4: 141,369,312 (GRCm39)	Y124C	probably damaging	Het
Ppp4r4	T	A	12: 103,543,108 (GRCm39)	W155R	probably damaging	Het
Prl7c1	C	A	13: 27,960,198 (GRCm39)	A115S	probably damaging	Het
Psg25	T	C	7: 18,263,590 (GRCm39)	I78V	possibly damaging	Het
Ptpn9	T	A	9: 56,944,002 (GRCm39)	V292E	probably benign	Het
Ptprs	G	A	17: 56,728,261 (GRCm39)	R908C	probably damaging	Het
Rps6ka1	C	T	4: 133,599,275 (GRCm39)	V51I	probably damaging	Het
Scube1	T	C	15: 83,504,332 (GRCm39)	I492V	probably benign	Het
Trappc2	G	A	X: 165,232,775 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,187,554 (GRCm39)	V739A	possibly damaging	Het
Unc79	T	C	12: 103,136,018 (GRCm39)		probably benign	Het
Vmn2r27	G	A	6: 124,200,791 (GRCm39)	P389S	possibly damaging	Het
Wipi2	T	A	5: 142,646,798 (GRCm39)	F212I	possibly damaging	Het

Other mutations in Igkv8-21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01838:Igkv8-21	APN	6	70,292,009 (GRCm39)	missense	probably damaging	1.00
R4246:Igkv8-21	UTSW	6	70,292,436 (GRCm39)	start codon destroyed	possibly damaging	0.75
R4614:Igkv8-21	UTSW	6	70,292,141 (GRCm39)	missense	probably benign	0.05
R4616:Igkv8-21	UTSW	6	70,292,141 (GRCm39)	missense	probably benign	0.05
R4825:Igkv8-21	UTSW	6	70,292,410 (GRCm39)	missense	probably benign
R5066:Igkv8-21	UTSW	6	70,292,427 (GRCm39)	nonsense	probably null
R5758:Igkv8-21	UTSW	6	70,292,009 (GRCm39)	missense	possibly damaging	0.81

Posted On

2013-11-05