Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01363:Igkv8-19'

75816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv8-19

Ensembl Gene

ENSMUSG00000096594

Gene Name

immunoglobulin kappa variable 8-19

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

IGL01363

Quality Score

Status

Chromosome

Chromosomal Location

70317860-70318432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70318083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 48 (S48G)

Ref Sequence

ENSEMBL: ENSMUSP00000143247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103388] [ENSMUST00000103389] [ENSMUST00000196599]

AlphaFold

A0A140T8M4

Predicted Effect

probably benign
Transcript: ENSMUST00000103388

SMART Domains

Protein: ENSMUSP00000100189
Gene: ENSMUSG00000076587

Domain	Start	End	E-Value	Type
IGv	38	110	4.84e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103389
AA Change: S28G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100190
Gene: ENSMUSG00000096594
AA Change: S28G

Domain	Start	End	E-Value	Type
IGv	18	96	6.58e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196599
AA Change: S48G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143247
Gene: ENSMUSG00000096594
AA Change: S48G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	116	2.7e-24	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,483 (GRCm39)	F23S	probably damaging	Het
Abcg3	A	G	5: 105,096,228 (GRCm39)	V528A	possibly damaging	Het
Adgrv1	A	G	13: 81,705,184 (GRCm39)	V1542A	probably damaging	Het
Alkbh3	A	G	2: 93,833,396 (GRCm39)		probably null	Het
Ang4	G	T	14: 52,001,636 (GRCm39)	T104K	probably benign	Het
Arhgef3	T	A	14: 27,123,876 (GRCm39)	C532*	probably null	Het
Bnip3	G	A	7: 138,499,777 (GRCm39)	T70I	probably benign	Het
Cast	T	C	13: 74,852,311 (GRCm39)	E644G	possibly damaging	Het
Cenpc1	A	T	5: 86,194,390 (GRCm39)	C125*	probably null	Het
Crb2	C	A	2: 37,683,845 (GRCm39)	R1116S	probably benign	Het
Cyp2c67	T	G	19: 39,628,411 (GRCm39)	I178L	probably damaging	Het
Cyp2c68	T	A	19: 39,691,871 (GRCm39)	M351L	probably benign	Het
Dusp1	G	A	17: 26,725,264 (GRCm39)	P365L	probably damaging	Het
Gatb	T	C	3: 85,559,652 (GRCm39)	L492P	probably damaging	Het
Isyna1	G	A	8: 71,047,372 (GRCm39)	V32I	probably damaging	Het
Itgb6	T	A	2: 60,441,726 (GRCm39)	N695Y	possibly damaging	Het
Klra8	T	C	6: 130,092,561 (GRCm39)	T247A	probably benign	Het
Mak	G	A	13: 41,206,853 (GRCm39)		probably benign	Het
Minar2	G	A	18: 59,205,380 (GRCm39)	G98D	probably damaging	Het
Mndal	T	A	1: 173,685,022 (GRCm39)	T516S	possibly damaging	Het
Mphosph9	G	T	5: 124,400,084 (GRCm39)	T939K	probably damaging	Het
Nfrkb	A	G	9: 31,325,667 (GRCm39)	T1037A	possibly damaging	Het
Or2m13	C	T	16: 19,226,333 (GRCm39)	M145I	probably benign	Het
Or8c9	A	G	9: 38,240,999 (GRCm39)	T39A	probably benign	Het
Pard3b	A	G	1: 62,676,799 (GRCm39)	Y1011C	probably damaging	Het
Parm1	G	A	5: 91,760,877 (GRCm39)	V250M	probably damaging	Het
Pgap2	T	G	7: 101,875,489 (GRCm39)	M1R	probably null	Het
Phlpp2	T	C	8: 110,663,729 (GRCm39)	F923L	probably benign	Het
Polr1a	T	A	6: 71,925,470 (GRCm39)	M739K	probably benign	Het
Pramel1	A	G	4: 143,123,955 (GRCm39)	Y210C	probably benign	Het
Pramel27	A	T	4: 143,579,846 (GRCm39)	Y477F	probably benign	Het
Raver2	A	G	4: 100,977,780 (GRCm39)		probably benign	Het
Rb1cc1	C	T	1: 6,320,333 (GRCm39)	L1251F	probably benign	Het
Ros1	T	A	10: 52,042,238 (GRCm39)	Y238F	probably damaging	Het
Shroom3	T	C	5: 93,088,852 (GRCm39)	L534P	probably benign	Het
Tjp1	A	T	7: 64,952,713 (GRCm39)	F1540L	possibly damaging	Het
Tmem200b	C	A	4: 131,649,704 (GRCm39)	P208Q	probably benign	Het
Tmem236	T	C	2: 14,179,441 (GRCm39)	L14P	probably damaging	Het
Tubgcp6	A	T	15: 88,991,728 (GRCm39)	I623N	probably damaging	Het
Vmn1r119	C	T	7: 20,746,056 (GRCm39)	V109I	probably benign	Het
Vmn2r98	A	G	17: 19,286,020 (GRCm39)	N173D	probably benign	Het

Other mutations in Igkv8-19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6181:Igkv8-19	UTSW	6	70,317,968 (GRCm39)	missense	probably damaging	0.98
R7072:Igkv8-19	UTSW	6	70,318,396 (GRCm39)	missense	probably benign	0.01
R7633:Igkv8-19	UTSW	6	70,318,383 (GRCm39)	critical splice donor site	probably benign
R7815:Igkv8-19	UTSW	6	70,318,420 (GRCm39)	missense	probably benign	0.00
R9687:Igkv8-19	UTSW	6	70,318,005 (GRCm39)	missense	probably benign	0.20
R9762:Igkv8-19	UTSW	6	70,317,866 (GRCm39)	missense	probably damaging	0.99
Z1177:Igkv8-19	UTSW	6	70,317,906 (GRCm39)	missense	possibly damaging	0.71
Z1177:Igkv8-19	UTSW	6	70,317,905 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07