Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00156:Igkv3-3'

306541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv3-3

Ensembl Gene

ENSMUSG00000094478

Gene Name

immunoglobulin kappa variable 3-3

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

IGL00156

Quality Score

Status

Chromosome

Chromosomal Location

70663930-70664518 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70664397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 80 (S80T)

Ref Sequence

ENSEMBL: ENSMUSP00000100203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103402]

AlphaFold

A0A140T8Q0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103402
AA Change: S80T

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100203
Gene: ENSMUSG00000094478
AA Change: S80T

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	1.09e-18	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,856,353 (GRCm39)		probably null	Het
Adamts19	T	A	18: 59,157,537 (GRCm39)	V943E	probably damaging	Het
C530025M09Rik	C	A	2: 149,672,646 (GRCm39)		probably benign	Het
Cep192	T	G	18: 67,953,407 (GRCm39)	W475G	probably damaging	Het
Col28a1	T	C	6: 8,014,795 (GRCm39)	Y870C	probably damaging	Het
Cyp2a22	A	T	7: 26,637,163 (GRCm39)	M207K	probably benign	Het
Dpm1	A	G	2: 168,052,495 (GRCm39)	V247A	probably benign	Het
Glt1d1	T	C	5: 127,709,349 (GRCm39)	M1T	probably null	Het
Gm9507	A	T	10: 77,647,114 (GRCm39)	C188*	probably null	Het
Hectd4	T	C	5: 121,501,933 (GRCm39)	V4222A	possibly damaging	Het
Lrrc49	T	C	9: 60,508,603 (GRCm39)	K520E	probably damaging	Het
Ltbp1	A	T	17: 75,692,155 (GRCm39)	Y1273F	probably damaging	Het
Lyst	T	A	13: 13,823,463 (GRCm39)	H1478Q	probably benign	Het
Mre11a	A	G	9: 14,736,504 (GRCm39)	D518G	probably benign	Het
Or1e22	T	A	11: 73,377,398 (GRCm39)	N84I	probably benign	Het
Or4a71	C	T	2: 89,358,551 (GRCm39)	D68N	probably damaging	Het
Or7e168	T	C	9: 19,719,692 (GRCm39)	I26T	probably benign	Het
Pkd1l1	T	A	11: 8,900,515 (GRCm39)	S9C	probably damaging	Het
Prrc2b	A	G	2: 32,098,731 (GRCm39)	H681R	probably damaging	Het
Rapgef1	A	G	2: 29,612,281 (GRCm39)	S644G	probably benign	Het
Sgce	T	A	6: 4,689,750 (GRCm39)	H361L	probably damaging	Het
Specc1	G	T	11: 62,008,835 (GRCm39)	W117L	probably benign	Het
Srrm4	A	G	5: 116,584,616 (GRCm39)	S485P	possibly damaging	Het
Traf2	G	T	2: 25,410,463 (GRCm39)	Y395*	probably null	Het
Trf	A	G	9: 103,098,156 (GRCm39)	I34T	probably benign	Het
Vdac2	T	C	14: 21,888,592 (GRCm39)	Y165H	possibly damaging	Het
Wwp1	T	C	4: 19,650,360 (GRCm39)	T269A	probably benign	Het

Other mutations in Igkv3-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4746:Igkv3-3	UTSW	6	70,664,308 (GRCm39)	missense	probably benign	0.00
R5055:Igkv3-3	UTSW	6	70,664,223 (GRCm39)	missense	probably benign	0.14
R5199:Igkv3-3	UTSW	6	70,664,488 (GRCm39)	missense	probably damaging	0.99
R5413:Igkv3-3	UTSW	6	70,664,414 (GRCm39)	missense	probably damaging	1.00
R5615:Igkv3-3	UTSW	6	70,664,214 (GRCm39)	missense	probably benign	0.00
R6163:Igkv3-3	UTSW	6	70,664,257 (GRCm39)	missense	possibly damaging	0.95
R7695:Igkv3-3	UTSW	6	70,664,295 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16