Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:2810474O19Rik'

424783

Institutional Source

Beutler Lab

Gene Symbol

2810474O19Rik

Ensembl Gene

ENSMUSG00000032712

Gene Name

RIKEN cDNA 2810474O19 gene

Synonyms

GET

MMRRC Submission

042957-MU

Accession Numbers

Genbank: NM_026054; MGI: 1914496

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149309414-149335663 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 149326460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 335 (E335*)

Ref Sequence

ENSEMBL: ENSMUSP00000139624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000127680] [ENSMUST00000130664] [ENSMUST00000185930] [ENSMUST00000187881] [ENSMUST00000189837] [ENSMUST00000189932] [ENSMUST00000190785]

AlphaFold

Q5DTW7

Predicted Effect

probably null
Transcript: ENSMUST00000046689
AA Change: E335*

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: E335*

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100765
AA Change: E335*

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: E335*

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127680

Predicted Effect

probably null
Transcript: ENSMUST00000130664
AA Change: E335*

Predicted Effect

probably benign
Transcript: ENSMUST00000185930

Predicted Effect

probably benign
Transcript: ENSMUST00000187881

Predicted Effect

probably null
Transcript: ENSMUST00000189837
AA Change: E335*

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: E335*

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1511	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000189932
AA Change: E335*

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: E335*

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190785
AA Change: E335*

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: E335*

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1173	9.4e-255	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

All alleles(126) : Targeted, knock-out(1) Gene trapped(125)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,615,419	P250S	possibly damaging	Het
Actn2	T	A	13: 12,308,951	M133L	probably benign	Het
AI314180	A	T	4: 58,850,934	M413K	probably benign	Het
Arhgap32	A	T	9: 32,152,010	K105M	probably damaging	Het
BC034090	A	G	1: 155,225,603	V305A	probably benign	Het
Brd1	G	A	15: 88,729,564	T376M	probably damaging	Het
Cbl	C	T	9: 44,159,021	A505T	probably benign	Het
Cga	G	T	4: 34,904,048	M14I	probably benign	Het
Cluh	T	C	11: 74,665,109		probably benign	Het
Col14a1	A	T	15: 55,362,436	D165V	unknown	Het
Cp	T	C	3: 19,978,925	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,097,221	D276V	possibly damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Erc1	T	A	6: 119,761,272	M509L	probably benign	Het
Evi5l	A	G	8: 4,178,653		probably benign	Het
Exoc6	T	C	19: 37,598,679		probably null	Het
Gm38706	C	T	6: 130,483,781		noncoding transcript	Het
Gpr183	T	C	14: 121,954,921	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952	D225E	probably benign	Het
Grb14	T	A	2: 64,914,734	K93N	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kif28	C	T	1: 179,700,282	G768D	probably damaging	Het
Krt79	A	T	15: 101,931,440	D373E	probably benign	Het
Mro	G	A	18: 73,876,822	S187N	probably benign	Het
Ms4a14	G	T	19: 11,303,057	D712E	possibly damaging	Het
Narfl	A	G	17: 25,776,920		probably benign	Het
Ndufaf1	T	C	2: 119,660,412	T56A	possibly damaging	Het
Nell2	A	T	15: 95,229,210	D761E	probably damaging	Het
Numb	A	G	12: 83,808,205	F116L	probably damaging	Het
Olfr1016	T	C	2: 85,800,148	N41D	probably damaging	Het
Olfr1065	A	G	2: 86,445,316	L222P	probably damaging	Het
Olfr1219	A	G	2: 89,074,735	Y119H	probably damaging	Het
Olfr235	A	T	19: 12,268,409	M60L	possibly damaging	Het
Olfr410	T	A	11: 74,334,980	M84L	probably benign	Het
Olfr798	T	A	10: 129,626,007	D18V	probably damaging	Het
Otog	A	C	7: 46,249,004	N182T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Padi6	A	T	4: 140,731,210	V457E	probably damaging	Het
Pex16	G	A	2: 92,377,530	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,135,219		probably benign	Het
Phf20	G	A	2: 156,267,497	E255K	probably damaging	Het
Pim1	A	G	17: 29,491,483		probably benign	Het
Prr23a2	T	A	9: 98,857,176	Y196N	probably damaging	Het
Prune2	A	T	19: 17,003,659	N60I	probably damaging	Het
Ptprb	T	A	10: 116,353,871	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,690,715	Y512C	possibly damaging	Het
Rft1	T	C	14: 30,666,782	V221A	probably benign	Het
Tacr2	T	C	10: 62,261,497	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,075,865	I25T	probably benign	Het
Th	A	G	7: 142,895,440	F191S	probably damaging	Het
Trim3	C	A	7: 105,618,347	R275L	probably benign	Het
Trpm3	A	G	19: 22,885,341		probably null	Het
Wars	A	T	12: 108,882,780	D80E	probably benign	Het
Wdr90	T	A	17: 25,845,598	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,634,869	I1182N	possibly damaging	Het

Other mutations in 2810474O19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:2810474O19Rik	APN	6	149334750	utr 3 prime	probably benign
IGL01401:2810474O19Rik	APN	6	149326896	missense	probably damaging	0.98
IGL01461:2810474O19Rik	APN	6	149331515	unclassified	probably benign
IGL01610:2810474O19Rik	APN	6	149328951	missense	probably benign	0.01
IGL02873:2810474O19Rik	APN	6	149327040	missense	probably damaging	1.00
IGL03202:2810474O19Rik	APN	6	149326439	missense	probably benign	0.08
grand_junction	UTSW	6	149327878	missense	probably damaging	0.98
grand_marais	UTSW	6	149326460	nonsense	probably null
3-1:2810474O19Rik	UTSW	6	149327729	missense	probably damaging	0.98
B6584:2810474O19Rik	UTSW	6	149329346	missense	probably damaging	0.96
PIT4280001:2810474O19Rik	UTSW	6	149325525	missense	probably benign	0.23
R0053:2810474O19Rik	UTSW	6	149327590	missense	probably benign	0.00
R0053:2810474O19Rik	UTSW	6	149327590	missense	probably benign	0.00
R0243:2810474O19Rik	UTSW	6	149326241	missense	probably damaging	1.00
R0620:2810474O19Rik	UTSW	6	149328375	missense	probably damaging	1.00
R0633:2810474O19Rik	UTSW	6	149325701	missense	probably benign	0.00
R0727:2810474O19Rik	UTSW	6	149325822	missense	possibly damaging	0.94
R0904:2810474O19Rik	UTSW	6	149328269	missense	probably damaging	0.99
R1221:2810474O19Rik	UTSW	6	149326221	missense	probably benign	0.24
R1282:2810474O19Rik	UTSW	6	149329172	nonsense	probably null
R1435:2810474O19Rik	UTSW	6	149326082	missense	probably benign	0.04
R1452:2810474O19Rik	UTSW	6	149326632	missense	probably damaging	1.00
R1587:2810474O19Rik	UTSW	6	149326520	missense	probably damaging	1.00
R1912:2810474O19Rik	UTSW	6	149328844	missense	possibly damaging	0.80
R1926:2810474O19Rik	UTSW	6	149329404	missense	probably benign	0.39
R1978:2810474O19Rik	UTSW	6	149326432	missense	probably benign	0.12
R2035:2810474O19Rik	UTSW	6	149329226	missense	possibly damaging	0.91
R2136:2810474O19Rik	UTSW	6	149328822	missense	probably benign	0.01
R2333:2810474O19Rik	UTSW	6	149327511	missense	probably damaging	1.00
R2360:2810474O19Rik	UTSW	6	149334647	missense	probably benign	0.05
R3027:2810474O19Rik	UTSW	6	149329035	missense	probably benign	0.02
R3121:2810474O19Rik	UTSW	6	149329243	nonsense	probably null
R3707:2810474O19Rik	UTSW	6	149329113	missense	probably damaging	0.98
R4204:2810474O19Rik	UTSW	6	149329544	nonsense	probably null
R4247:2810474O19Rik	UTSW	6	149325543	missense	possibly damaging	0.87
R4249:2810474O19Rik	UTSW	6	149325543	missense	possibly damaging	0.87
R4304:2810474O19Rik	UTSW	6	149326238	nonsense	probably null
R4385:2810474O19Rik	UTSW	6	149326208	missense	possibly damaging	0.93
R4702:2810474O19Rik	UTSW	6	149329403	missense	probably benign	0.05
R4747:2810474O19Rik	UTSW	6	149326894	missense	probably damaging	0.96
R4912:2810474O19Rik	UTSW	6	149329389	missense	probably damaging	1.00
R4913:2810474O19Rik	UTSW	6	149329389	missense	probably damaging	1.00
R4965:2810474O19Rik	UTSW	6	149328398	nonsense	probably null
R4971:2810474O19Rik	UTSW	6	149325599	unclassified	probably benign
R5077:2810474O19Rik	UTSW	6	149326030	missense	probably benign	0.14
R5213:2810474O19Rik	UTSW	6	149326053	missense	possibly damaging	0.77
R5418:2810474O19Rik	UTSW	6	149326136	missense	probably damaging	1.00
R5452:2810474O19Rik	UTSW	6	149329113	nonsense	probably null
R5498:2810474O19Rik	UTSW	6	149328240	missense	probably damaging	0.99
R5673:2810474O19Rik	UTSW	6	149327993	nonsense	probably null
R5690:2810474O19Rik	UTSW	6	149328237	missense	possibly damaging	0.95
R5916:2810474O19Rik	UTSW	6	149326578	missense	probably damaging	0.99
R5917:2810474O19Rik	UTSW	6	149334681	missense	probably damaging	0.98
R6160:2810474O19Rik	UTSW	6	149331507	critical splice donor site	probably null
R6280:2810474O19Rik	UTSW	6	149327057	missense	probably damaging	1.00
R6326:2810474O19Rik	UTSW	6	149328995	missense	probably damaging	0.96
R6396:2810474O19Rik	UTSW	6	149327919	missense	probably damaging	1.00
R6702:2810474O19Rik	UTSW	6	149327878	missense	probably damaging	0.98
R6972:2810474O19Rik	UTSW	6	149326109	missense	probably damaging	0.99
R7127:2810474O19Rik	UTSW	6	149327945	missense	possibly damaging	0.95
R7168:2810474O19Rik	UTSW	6	149327843	missense	probably benign
R7316:2810474O19Rik	UTSW	6	149326638	missense	probably damaging	0.99
R7586:2810474O19Rik	UTSW	6	149326793	missense	possibly damaging	0.76
R7719:2810474O19Rik	UTSW	6	149327355	missense	probably benign
R7751:2810474O19Rik	UTSW	6	149325438	start gained	probably benign
R8013:2810474O19Rik	UTSW	6	149328870	missense	probably damaging	0.96
R8358:2810474O19Rik	UTSW	6	149326578	missense	probably damaging	0.99
R8393:2810474O19Rik	UTSW	6	149328500	missense	possibly damaging	0.56
R8968:2810474O19Rik	UTSW	6	149327166	missense	probably damaging	0.96
R8977:2810474O19Rik	UTSW	6	149328408	missense	probably damaging	0.99
R8981:2810474O19Rik	UTSW	6	149326499	missense	probably benign	0.06
R9106:2810474O19Rik	UTSW	6	149328870	missense	possibly damaging	0.77
R9208:2810474O19Rik	UTSW	6	149326529	missense	probably damaging	0.99
R9294:2810474O19Rik	UTSW	6	149326432	missense	probably benign	0.12
R9352:2810474O19Rik	UTSW	6	149334682	missense	probably damaging	1.00
R9361:2810474O19Rik	UTSW	6	149326634	missense	possibly damaging	0.70
R9513:2810474O19Rik	UTSW	6	149328295	nonsense	probably null
R9566:2810474O19Rik	UTSW	6	149325854	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GCCCTTCCTTACAGCTGTAG -3'
(R):5'- TTTACTACAACCAGCTGCCATC -3'

Sequencing Primer
(F):5'- CCTTACAGCTGTAGATATGAAAACC -3'
(R):5'- ACTAGAGATTTAATATCCCTCACCAG -3'

Posted On

2016-08-04