Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:4930590J08Rik'

316333

Institutional Source

Beutler Lab

Gene Symbol

4930590J08Rik

Ensembl Gene

ENSMUSG00000034063

Gene Name

RIKEN cDNA 4930590J08 gene

Synonyms

LOC381798

MMRRC Submission

040854-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4072 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91902809-91950725 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 91945361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000059318

SMART Domains

Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063

Domain	Start	End	E-Value	Type
low complexity region	89	109	N/A	INTRINSIC
Pfam:FAM194	357	561	4.1e-68	PFAM
low complexity region	626	637	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000205569

Predicted Effect

probably null
Transcript: ENSMUST00000205686

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,333,695	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Acss3	C	T	10: 107,123,585		probably benign	Het
Ankar	G	T	1: 72,688,592	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atp4a	T	C	7: 30,715,332	I182T	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Baz1a	A	G	12: 54,941,560	I268T	probably benign	Het
Baz2b	A	T	2: 59,912,573		probably null	Het
C2cd4d	C	A	3: 94,363,878	C150*	probably null	Het
Crtac1	T	C	19: 42,304,707	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,106,492	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,298	R2284*	probably null	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Galntl5	A	T	5: 25,198,480	K150*	probably null	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm19965	A	G	1: 116,821,071	T161A	probably benign	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hydin	G	A	8: 110,505,256	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Obscn	A	G	11: 58,997,183	I7652T	unknown	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr52	T	A	2: 86,181,647	M155L	probably benign	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde7a	G	A	3: 19,256,853	R70C	probably damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pms2	T	C	5: 143,929,001	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Rp1l1	A	T	14: 64,028,132	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,338,907	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,946,680	D374G	probably damaging	Het
Slco2a1	T	A	9: 103,068,002	I192N	probably damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396	T45A	probably damaging	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Vwc2	T	A	11: 11,116,446	L178Q	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het

Other mutations in 4930590J08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:4930590J08Rik	APN	6	91919118	missense	possibly damaging	0.74
IGL01478:4930590J08Rik	APN	6	91934609	missense	probably benign	0.01
IGL01481:4930590J08Rik	APN	6	91933098	missense	probably damaging	1.00
IGL01485:4930590J08Rik	APN	6	91950022	missense	probably damaging	0.96
IGL01794:4930590J08Rik	APN	6	91918112	nonsense	probably null
IGL01795:4930590J08Rik	APN	6	91918112	nonsense	probably null
IGL02040:4930590J08Rik	APN	6	91918110	missense	probably benign
IGL02171:4930590J08Rik	APN	6	91944256	missense	probably benign	0.01
IGL02968:4930590J08Rik	APN	6	91923473	missense	probably damaging	1.00
IGL03358:4930590J08Rik	APN	6	91928735	missense	probably damaging	1.00
PIT4519001:4930590J08Rik	UTSW	6	91917057	missense	probably damaging	1.00
R0531:4930590J08Rik	UTSW	6	91915146	missense	probably benign
R0569:4930590J08Rik	UTSW	6	91942578	nonsense	probably null
R1536:4930590J08Rik	UTSW	6	91917035	missense	probably benign	0.20
R1730:4930590J08Rik	UTSW	6	91919278	missense	possibly damaging	0.60
R1758:4930590J08Rik	UTSW	6	91915222	missense	possibly damaging	0.79
R1783:4930590J08Rik	UTSW	6	91919278	missense	possibly damaging	0.60
R1911:4930590J08Rik	UTSW	6	91950069	splice site	probably benign
R1930:4930590J08Rik	UTSW	6	91915021	missense	probably benign	0.01
R1936:4930590J08Rik	UTSW	6	91917080	missense	possibly damaging	0.90
R2157:4930590J08Rik	UTSW	6	91917698	splice site	probably null
R2157:4930590J08Rik	UTSW	6	91942487	missense	possibly damaging	0.48
R4662:4930590J08Rik	UTSW	6	91914958	missense	probably benign
R4900:4930590J08Rik	UTSW	6	91918110	missense	probably benign
R4936:4930590J08Rik	UTSW	6	91944264	missense	probably damaging	1.00
R5394:4930590J08Rik	UTSW	6	91919193	missense	probably benign	0.00
R5887:4930590J08Rik	UTSW	6	91915143	nonsense	probably null
R5931:4930590J08Rik	UTSW	6	91919115	missense	probably damaging	1.00
R6174:4930590J08Rik	UTSW	6	91942536	missense	probably damaging	0.99
R6179:4930590J08Rik	UTSW	6	91942330	missense	probably damaging	0.96
R6380:4930590J08Rik	UTSW	6	91923137	missense	probably damaging	1.00
R6531:4930590J08Rik	UTSW	6	91949999	missense	possibly damaging	0.88
R7570:4930590J08Rik	UTSW	6	91934610	missense	probably benign	0.03
R7860:4930590J08Rik	UTSW	6	91928726	missense	probably damaging	1.00
R7936:4930590J08Rik	UTSW	6	91923464	nonsense	probably null
R7958:4930590J08Rik	UTSW	6	91934483	missense	probably benign	0.02
R7968:4930590J08Rik	UTSW	6	91945460	missense
R8111:4930590J08Rik	UTSW	6	91917710	missense	probably benign
R8953:4930590J08Rik	UTSW	6	91915021	missense	probably benign	0.01
R9084:4930590J08Rik	UTSW	6	91915035	missense	probably damaging	0.97
R9154:4930590J08Rik	UTSW	6	91949945	missense	probably benign	0.09
R9319:4930590J08Rik	UTSW	6	91945465	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGCTAGTGTGATTTCCCATGC -3'
(R):5'- ACTGTAGAGAGACTGCACCC -3'

Sequencing Primer
(F):5'- GTGTGATTTCCCATGCTATCAAAGGC -3'
(R):5'- GTAGAGAGACTGCACCCCACTTC -3'

Posted On

2015-05-15