Mutagenetix > Incidental Mutation

Incidental Mutation 'R2046:4930503L19Rik'

222045

Institutional Source

Beutler Lab

Gene Symbol

4930503L19Rik

Ensembl Gene

ENSMUSG00000044906

Gene Name

RIKEN cDNA 4930503L19 gene

Synonyms

Las2

MMRRC Submission

040053-MU

Accession Numbers

Essential gene?

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

Stock #

R2046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70585283-70605580 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70600553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 84 (D84V)

Ref Sequence

ENSEMBL: ENSMUSP00000148747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067556] [ENSMUST00000114959] [ENSMUST00000211817] [ENSMUST00000212074] [ENSMUST00000212155] [ENSMUST00000212539] [ENSMUST00000212683] [ENSMUST00000212982]

AlphaFold

Q8CB14

Predicted Effect

probably damaging
Transcript: ENSMUST00000067556
AA Change: D352V

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

SMART Domains

Protein: ENSMUSP00000065118
Gene: ENSMUSG00000044906
AA Change: D352V

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 damaging
Transcript: ENSMUST00000211817
AA Change: D84V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212074
AA Change: D183V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212155
AA Change: D352V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000212539

Predicted Effect

probably benign
Transcript: ENSMUST00000212683

Predicted Effect

probably benign
Transcript: ENSMUST00000212982
AA Change: D352V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213066

Meta Mutation Damage Score

0.8213

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,218,567 (GRCm39)	S272T	possibly damaging	Het
Adgre4	A	G	17: 56,085,847 (GRCm39)	N49D	possibly damaging	Het
Ap2b1	A	T	11: 83,227,212 (GRCm39)	Y328F	probably benign	Het
Arhgef33	G	C	17: 80,680,895 (GRCm39)	E678D	probably benign	Het
Arid2	G	A	15: 96,267,268 (GRCm39)	V583I	probably damaging	Het
Bdkrb1	T	A	12: 105,570,985 (GRCm39)	S184T	probably benign	Het
Bend3	T	C	10: 43,387,842 (GRCm39)	F745S	probably damaging	Het
Card10	A	T	15: 78,671,673 (GRCm39)	V597E	possibly damaging	Het
Casp3	T	A	8: 47,082,761 (GRCm39)		probably benign	Het
Ccnb2	A	G	9: 70,316,629 (GRCm39)	V340A	probably benign	Het
Cdkl3	G	T	11: 51,917,677 (GRCm39)	V325L	probably benign	Het
Clec4n	T	A	6: 123,223,463 (GRCm39)	N153K	probably benign	Het
Crtac1	C	T	19: 42,322,492 (GRCm39)	V83I	probably damaging	Het
Cul9	C	A	17: 46,854,659 (GRCm39)	L14F	probably damaging	Het
Dgka	T	C	10: 128,559,404 (GRCm39)	Y519C	probably damaging	Het
Dhrs7	T	G	12: 72,699,040 (GRCm39)	K314T	possibly damaging	Het
Dnaaf9	T	A	2: 130,652,837 (GRCm39)	I42L	possibly damaging	Het
Dnah10	G	T	5: 124,873,405 (GRCm39)	K2542N	probably benign	Het
Dock5	A	T	14: 68,049,591 (GRCm39)	V731E	probably benign	Het
Dpy19l1	T	A	9: 24,334,455 (GRCm39)	H571L	probably damaging	Het
Dzip1	A	T	14: 119,159,890 (GRCm39)	I106N	probably damaging	Het
Eif2ak4	A	T	2: 118,281,889 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,483,799 (GRCm39)	Y70C	probably damaging	Het
Eps15	T	C	4: 109,227,793 (GRCm39)	F344S	probably damaging	Het
Erbb4	C	T	1: 68,337,482 (GRCm39)	R612Q	probably benign	Het
Fam83h	T	C	15: 75,874,787 (GRCm39)	H850R	probably benign	Het
Fancg	A	G	4: 43,004,604 (GRCm39)	C484R	probably damaging	Het
Fzd9	A	G	5: 135,278,538 (GRCm39)	I449T	probably damaging	Het
Gm10647	A	G	9: 66,705,519 (GRCm39)		probably benign	Het
Iigp1c	T	A	18: 60,378,571 (GRCm39)	H35Q	probably benign	Het
Itga11	C	T	9: 62,634,979 (GRCm39)	L86F	probably damaging	Het
Lamc2	C	T	1: 153,017,511 (GRCm39)	R492H	probably benign	Het
Marchf6	A	G	15: 31,486,580 (GRCm39)	V325A	probably benign	Het
Myo5b	A	T	18: 74,710,526 (GRCm39)	I47F	probably benign	Het
Nek9	T	A	12: 85,367,481 (GRCm39)		probably benign	Het
Nelfb	T	A	2: 25,096,323 (GRCm39)	N262I	probably damaging	Het
Neurl4	A	G	11: 69,799,523 (GRCm39)	D942G	probably damaging	Het
Nipbl	G	A	15: 8,353,951 (GRCm39)	P1729S	probably benign	Het
Nr4a3	A	G	4: 48,067,807 (GRCm39)	T468A	possibly damaging	Het
Nrm	G	A	17: 36,175,109 (GRCm39)	V146I	probably benign	Het
Or8h9	C	A	2: 86,789,077 (GRCm39)	A242S	possibly damaging	Het
Pitx3	T	C	19: 46,125,618 (GRCm39)	E42G	possibly damaging	Het
Pkd1l2	C	T	8: 117,726,694 (GRCm39)	A2271T	probably damaging	Het
Pofut2	A	G	10: 77,096,428 (GRCm39)	N51S	probably damaging	Het
Ppp1r3a	T	C	6: 14,722,103 (GRCm39)	E273G	probably benign	Het
Psme4	A	G	11: 30,767,723 (GRCm39)		probably benign	Het
Pus7l	T	C	15: 94,438,666 (GRCm39)	I60V	probably benign	Het
Pygo2	T	A	3: 89,340,455 (GRCm39)	N284K	possibly damaging	Het
Ralgapa1	C	T	12: 55,741,945 (GRCm39)	C1368Y	probably damaging	Het
Rbm45	G	A	2: 76,205,742 (GRCm39)	G198E	probably benign	Het
Reln	T	C	5: 22,147,625 (GRCm39)	I2442V	probably benign	Het
Rmi1	T	C	13: 58,555,772 (GRCm39)	V7A	probably benign	Het
Rsf1	T	C	7: 97,310,884 (GRCm39)	L538P	probably benign	Het
Rsph4a	T	G	10: 33,790,539 (GRCm39)		probably benign	Het
Sardh	A	T	2: 27,105,094 (GRCm39)	D676E	possibly damaging	Het
Sh3tc2	A	G	18: 62,123,914 (GRCm39)	M892V	probably benign	Het
Slc38a11	A	G	2: 65,188,529 (GRCm39)	F80S	probably damaging	Het
Slc6a2	C	A	8: 93,699,554 (GRCm39)	S194*	probably null	Het
Slco2b1	A	G	7: 99,339,686 (GRCm39)	F86L	probably damaging	Het
Smc3	G	A	19: 53,627,845 (GRCm39)	D875N	probably benign	Het
Sp100	G	A	1: 85,636,786 (GRCm39)	E575K	possibly damaging	Het
Spns2	A	G	11: 72,349,866 (GRCm39)	L196P	possibly damaging	Het
Taf8	A	G	17: 47,801,201 (GRCm39)	S261P	probably benign	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Ttn	C	A	2: 76,738,138 (GRCm39)	V4134F	probably benign	Het
Ush2a	A	G	1: 188,089,124 (GRCm39)	T360A	probably benign	Het
Usp28	T	A	9: 48,950,375 (GRCm39)	C935S	probably damaging	Het
Vps37d	T	A	5: 135,102,831 (GRCm39)	M134L	probably benign	Het
Vwa2	T	G	19: 56,894,010 (GRCm39)	V329G	probably benign	Het
Zfp110	A	G	7: 12,583,349 (GRCm39)	R666G	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
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
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'- TTGGCACACTAAACAATGTCAC -3'
(R):5'- CAATCCCAAAAGCCATTCTGTG -3'

Sequencing Primer
(F):5'- TGTCACTTACTTACAAAGCCACAGG -3'
(R):5'- CCCACTGTCCTGATTTGA -3'

Posted On

2014-08-25