Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03301:Igkv19-93'

416221

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv19-93

Ensembl Gene

ENSMUSG00000076530

Gene Name

immunoglobulin kappa chain variable 19-93

Synonyms

Igk-V38, Vx38C

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

IGL03301

Quality Score

Status

Chromosome

Chromosomal Location

68713281-68713748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68713465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 55 (W55R)

Ref Sequence

ENSEMBL: ENSMUSP00000143363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000183936] [ENSMUST00000196863]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000183936
AA Change: W54R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139272
Gene: ENSMUSG00000098814
AA Change: W54R

Domain	Start	End	E-Value	Type
IGv	37	109	5.47e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196863
AA Change: W55R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143363
Gene: ENSMUSG00000098814
AA Change: W55R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	110	2.2e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197608

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,855,263 (GRCm39)	E418G	probably damaging	Het
Arl14	T	C	3: 69,130,276 (GRCm39)	F141S	probably damaging	Het
C1s1	A	T	6: 124,518,283 (GRCm39)		probably benign	Het
Cilp	T	C	9: 65,187,499 (GRCm39)	V1198A	probably benign	Het
Cnbd1	A	T	4: 19,055,039 (GRCm39)	I129K	probably benign	Het
Ctdp1	G	A	18: 80,492,849 (GRCm39)	Q549*	probably null	Het
Cyp2ab1	T	A	16: 20,132,549 (GRCm39)	I250F	possibly damaging	Het
Dmd	G	A	X: 82,952,120 (GRCm39)	R1765Q	probably damaging	Het
Dnah1	C	T	14: 31,014,649 (GRCm39)	G1739R	probably damaging	Het
Eml6	T	C	11: 29,714,083 (GRCm39)	K1350E	probably benign	Het
Ephx4	C	A	5: 107,574,730 (GRCm39)	T256K	probably benign	Het
Fnd3c2	G	T	X: 105,295,869 (GRCm39)	Q49K	probably benign	Het
Heatr1	G	T	13: 12,449,086 (GRCm39)	G1889W	probably damaging	Het
Jak1	T	C	4: 101,032,370 (GRCm39)	Y412C	probably damaging	Het
Moxd1	A	T	10: 24,155,382 (GRCm39)	N261I	probably damaging	Het
Mrgpra1	T	C	7: 46,985,164 (GRCm39)	N172D	probably benign	Het
Papolg	T	C	11: 23,824,503 (GRCm39)	N293S	probably benign	Het
Piezo2	A	G	18: 63,160,775 (GRCm39)	S2294P	probably damaging	Het
Ppp3cb	A	T	14: 20,574,052 (GRCm39)	V262D	probably damaging	Het
Rhox7a	A	G	X: 36,928,888 (GRCm39)	T235A	probably benign	Het
Saal1	A	G	7: 46,351,944 (GRCm39)		probably benign	Het
Scrn1	G	A	6: 54,525,322 (GRCm39)	R16*	probably null	Het
Slc22a2	A	G	17: 12,824,926 (GRCm39)	R263G	probably damaging	Het
Speer3	T	A	5: 13,845,447 (GRCm39)	L160H	probably damaging	Het
Tmcc2	T	C	1: 132,288,557 (GRCm39)	M377V	possibly damaging	Het
Tsen2	T	G	6: 115,545,732 (GRCm39)	Y341D	probably damaging	Het
Vmn2r13	A	T	5: 109,305,955 (GRCm39)	V541D	probably damaging	Het
Vmn2r15	A	G	5: 109,445,221 (GRCm39)		probably null	Het
Zfp711	T	C	X: 111,543,098 (GRCm39)	Y710H	probably damaging	Het
Zmiz2	C	T	11: 6,351,170 (GRCm39)	T566M	probably damaging	Het

Other mutations in Igkv19-93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5195:Igkv19-93	UTSW	6	68,713,510 (GRCm39)	missense	probably damaging	0.96
R6253:Igkv19-93	UTSW	6	68,713,323 (GRCm39)	missense	probably damaging	1.00
R7282:Igkv19-93	UTSW	6	68,713,485 (GRCm39)	missense	probably benign	0.00
R7568:Igkv19-93	UTSW	6	68,713,477 (GRCm39)	nonsense	probably null
R8880:Igkv19-93	UTSW	6	68,713,494 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02