Mutagenetix > Incidental Mutation

Incidental Mutation 'P0012:Igkv3-4'

7561

Institutional Source

Beutler Lab

Gene Symbol

Igkv3-4

Ensembl Gene

ENSMUSG00000096715

Gene Name

immunoglobulin kappa variable 3-4

Synonyms

MMRRC Submission

038266-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

P0012 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70648773-70649361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70649231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 77 (N77Y)

Ref Sequence

ENSEMBL: ENSMUSP00000100202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103401]

AlphaFold

A0A140T8Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000103401
AA Change: N77Y

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100202
Gene: ENSMUSG00000096715
AA Change: N77Y

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	3.19e-20	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 85.5%
3x: 81.0%
10x: 67.7%
20x: 52.2%

Validation Efficiency

85% (579/685)

Allele List at MGI

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	C	7: 82,223,465 (GRCm39)	N156T	probably benign	Het
Akap3	T	C	6: 126,841,564 (GRCm39)	F61S	possibly damaging	Het
Arhgap1	T	C	2: 91,500,608 (GRCm39)	V379A	probably benign	Het
Ces1h	T	C	8: 94,080,138 (GRCm39)	K459E	unknown	Het
Fbn1	T	C	2: 125,211,241 (GRCm39)		probably benign	Het
Hrh2	T	C	13: 54,368,447 (GRCm39)	F141S	probably benign	Het
Nup205	T	C	6: 35,173,478 (GRCm39)	M496T	possibly damaging	Het
Tas2r124	T	C	6: 132,732,503 (GRCm39)	Y271H	possibly damaging	Het
Tnfrsf11b	A	G	15: 54,123,194 (GRCm39)		probably benign	Het

Other mutations in Igkv3-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4171:Igkv3-4	UTSW	6	70,649,324 (GRCm39)	missense	probably damaging	1.00
R4774:Igkv3-4	UTSW	6	70,649,269 (GRCm39)	missense	probably damaging	1.00
R5590:Igkv3-4	UTSW	6	70,649,267 (GRCm39)	missense	probably damaging	1.00
R7127:Igkv3-4	UTSW	6	70,649,155 (GRCm39)	nonsense	probably null
R7898:Igkv3-4	UTSW	6	70,649,297 (GRCm39)	missense	probably damaging	1.00
R8494:Igkv3-4	UTSW	6	70,649,147 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-10-04