Mutagenetix > Incidental Mutation

Incidental Mutation 'R2361:4930503L19Rik'

247161

Institutional Source

Beutler Lab

Gene Symbol

4930503L19Rik

Ensembl Gene

ENSMUSG00000044906

Gene Name

RIKEN cDNA 4930503L19 gene

Synonyms

Las2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70585283-70605580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70602646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 56 (Q56K)

Ref Sequence

ENSEMBL: ENSMUSP00000148553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067556] [ENSMUST00000114959] [ENSMUST00000164223] [ENSMUST00000168249] [ENSMUST00000173951] [ENSMUST00000174118] [ENSMUST00000174667] [ENSMUST00000212074] [ENSMUST00000212982] [ENSMUST00000212539] [ENSMUST00000212155] [ENSMUST00000212683] [ENSMUST00000211817]

AlphaFold

Q8CB14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067556
AA Change: Q56K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: Q56K

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
Pfam:LAS2	161	235	2.8e-26	PFAM
Pfam:LAS2	325	387	9.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114959

SMART Domains

Protein: ENSMUSP00000110609
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164223

SMART Domains

Protein: ENSMUSP00000126055
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168249

SMART Domains

Protein: ENSMUSP00000130991
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173951

SMART Domains

Protein: ENSMUSP00000134211
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
Blast:START	1	54	8e-18	BLAST
PDB:2MOU\|A	1	54	3e-17	PDB
SCOP:d1em2a_	1	54	2e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174118

SMART Domains

Protein: ENSMUSP00000134511
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
START	6	208	8.76e-16	SMART
low complexity region	215	229	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174667

SMART Domains

Protein: ENSMUSP00000133956
Gene: ENSMUSG00000079608

Domain	Start	End	E-Value	Type
Pfam:START	4	98	9.6e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212074
AA Change: Q56K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212982
AA Change: Q56K

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212539
AA Change: Q56K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212155
AA Change: Q56K

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212683
AA Change: Q56K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000211817
AA Change: Q56K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	A	G	9: 36,609,846 (GRCm39)	N239S	possibly damaging	Het
Acss2	A	G	2: 155,400,589 (GRCm39)	K543E	probably damaging	Het
Agbl3	A	G	6: 34,809,440 (GRCm39)	D689G	possibly damaging	Het
Ass1	T	C	2: 31,410,394 (GRCm39)	Y402H	probably benign	Het
Atr	A	G	9: 95,753,210 (GRCm39)	H683R	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Cacna1h	C	A	17: 25,602,986 (GRCm39)	V1445F	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Lce1k	T	A	3: 92,713,891 (GRCm39)	S98C	unknown	Het
Lrrc9	T	C	12: 72,510,244 (GRCm39)	C448R	possibly damaging	Het
Map3k13	A	G	16: 21,725,286 (GRCm39)	T420A	probably benign	Het
Megf8	A	G	7: 25,048,379 (GRCm39)	D1684G	possibly damaging	Het
Nacad	T	C	11: 6,550,821 (GRCm39)	H790R	probably benign	Het
Nsd1	A	G	13: 55,361,524 (GRCm39)	D164G	possibly damaging	Het
Nt5e	T	C	9: 88,252,290 (GRCm39)	S551P	possibly damaging	Het
Ptgs2	T	C	1: 149,979,726 (GRCm39)	V277A	probably benign	Het
Slc34a2	T	A	5: 53,225,487 (GRCm39)	F411L	probably benign	Het
Slc4a1	T	C	11: 102,247,656 (GRCm39)	Y409C	probably damaging	Het

Other mutations in 4930503L19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:4930503L19Rik	APN	18	70,586,404 (GRCm39)	nonsense	probably null
IGL01549:4930503L19Rik	APN	18	70,601,106 (GRCm39)	missense	possibly damaging	0.46
R0119:4930503L19Rik	UTSW	18	70,602,553 (GRCm39)	nonsense	probably null
R0299:4930503L19Rik	UTSW	18	70,602,553 (GRCm39)	nonsense	probably null
R0554:4930503L19Rik	UTSW	18	70,600,451 (GRCm39)	missense	probably damaging	1.00
R0657:4930503L19Rik	UTSW	18	70,602,553 (GRCm39)	nonsense	probably null
R0973:4930503L19Rik	UTSW	18	70,600,997 (GRCm39)	splice site	probably null
R0973:4930503L19Rik	UTSW	18	70,600,997 (GRCm39)	splice site	probably null
R0974:4930503L19Rik	UTSW	18	70,600,997 (GRCm39)	splice site	probably null
R1710:4930503L19Rik	UTSW	18	70,601,134 (GRCm39)	missense	possibly damaging	0.83
R2046:4930503L19Rik	UTSW	18	70,600,553 (GRCm39)	missense	probably damaging	1.00
R2936:4930503L19Rik	UTSW	18	70,601,519 (GRCm39)	missense	probably damaging	0.98
R5266:4930503L19Rik	UTSW	18	70,591,455 (GRCm39)	missense	probably damaging	1.00
R6317:4930503L19Rik	UTSW	18	70,601,264 (GRCm39)	missense	probably damaging	1.00
R6381:4930503L19Rik	UTSW	18	70,600,788 (GRCm39)	missense	probably damaging	1.00
R7108:4930503L19Rik	UTSW	18	70,601,547 (GRCm39)	missense	probably benign	0.30
R8233:4930503L19Rik	UTSW	18	70,602,687 (GRCm39)	missense	probably benign	0.02
R9658:4930503L19Rik	UTSW	18	70,600,401 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCCAACTTTCTAAGGCCC -3'
(R):5'- GAATAACTCCTTTTGAGAAAGCCATGG -3'

Sequencing Primer
(F):5'- GGTCCAACTTTCTAAGGCCCATTTC -3'
(R):5'- GCCATGGCGAAGTTAAACAC -3'

Posted On

2014-10-30