Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:4930503L19Rik'

401731

Institutional Source

Beutler Lab

Gene Symbol

4930503L19Rik

Ensembl Gene

ENSMUSG00000044906

Gene Name

RIKEN cDNA 4930503L19 gene

Synonyms

Las2

MMRRC Submission

042858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5266 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70585283-70605580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70591455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 457 (N457S)

Ref Sequence

ENSEMBL: ENSMUSP00000065118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067556] [ENSMUST00000211817] [ENSMUST00000212074] [ENSMUST00000212155] [ENSMUST00000212539] [ENSMUST00000212683] [ENSMUST00000212982]

AlphaFold

Q8CB14

Predicted Effect

probably damaging
Transcript: ENSMUST00000067556
AA Change: N457S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: N457S

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: ENSMUST00000211817
AA Change: N189S

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212074
AA Change: N288S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000212155

Predicted Effect

probably benign
Transcript: ENSMUST00000212539

Predicted Effect

probably benign
Transcript: ENSMUST00000212683

Predicted Effect

probably benign
Transcript: ENSMUST00000212982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213066

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elac1	A	G	18: 73,875,740 (GRCm39)	V97A	probably benign	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gask1b	T	A	3: 79,843,910 (GRCm39)	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or52h9	A	T	7: 104,203,026 (GRCm39)	Q300L	probably benign	Het
Or5d43	T	C	2: 88,104,565 (GRCm39)	Y276C	possibly damaging	Het
Padi4	A	G	4: 140,473,442 (GRCm39)	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	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
R2936:4930503L19Rik	UTSW	18	70,601,519 (GRCm39)	missense	probably damaging	0.98
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'- ATTCTACTCCCAGACAACACTGC -3'
(R):5'- ATACATTGTTGTCTTGACTTTTGCA -3'

Sequencing Primer
(F):5'- TATGGCTGAAACCTGTGAAACC -3'
(R):5'- AACTTTAGAGCTCTACTCTATC -3'

Posted On

2016-07-06