Mutagenetix > Incidental Mutation

Incidental Mutation 'R2936:4930503L19Rik'

255035

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 #

R2936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70585283-70605580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70601519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 121 (M121K)

Ref Sequence

ENSEMBL: ENSMUSP00000148553 (fasta)

Gene Model

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

AlphaFold

Q8CB14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067556
AA Change: M121K

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: M121K

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: M106K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000212982
AA Change: M121K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212155
AA Change: M121K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212683
AA Change: M121K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000212539
AA Change: M121K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213066

Predicted Effect

probably benign
Transcript: ENSMUST00000211817

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacybp	A	T	1: 160,035,947 (GRCm39)		probably null	Het
Cd6	T	C	19: 10,773,686 (GRCm39)		probably null	Het
Cep162	T	C	9: 87,109,467 (GRCm39)	T379A	probably benign	Het
Gaa	T	C	11: 119,174,550 (GRCm39)	V799A	probably benign	Het
Gm16503	A	G	4: 147,625,704 (GRCm39)	D66G	unknown	Het
Hspa9	T	C	18: 35,081,067 (GRCm39)	T205A	probably damaging	Het
Ihh	A	G	1: 74,985,705 (GRCm39)	I260T	probably damaging	Het
Jcad	T	A	18: 4,675,153 (GRCm39)	Y972N	probably benign	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,357,819 (GRCm39)	Q341R	probably benign	Het
Nup155	T	C	15: 8,172,533 (GRCm39)	S840P	possibly damaging	Het
Or4l15	A	T	14: 50,197,611 (GRCm39)	V306E	probably benign	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Pde5a	A	G	3: 122,587,968 (GRCm39)	E378G	probably damaging	Het
Rad54l	T	C	4: 115,980,076 (GRCm39)		probably benign	Het
Stbd1	C	T	5: 92,751,119 (GRCm39)	P51L	possibly damaging	Het
Tent4a	G	A	13: 69,650,446 (GRCm39)	T621I	possibly damaging	Het
Tnfaip3	A	G	10: 18,887,357 (GRCm39)	F56S	probably damaging	Het
Tnr	A	C	1: 159,715,932 (GRCm39)	Y898S	probably damaging	Het
Trav6n-6	A	G	14: 53,370,341 (GRCm39)	T31A	probably benign	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
R2361:4930503L19Rik	UTSW	18	70,602,646 (GRCm39)	missense	probably damaging	1.00
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'- TTGCTCTTGGAAGTAGCGTC -3'
(R):5'- AAGAAGCTTGTGTTCTGTGTATCAG -3'

Sequencing Primer
(F):5'- GTAGCGTCTACATAAAAACTTGGAC -3'
(R):5'- TTGTATTCACAGCTAATGACGAAGGG -3'

Posted On

2014-12-29