Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:1700061G19Rik'

34812

Institutional Source

Beutler Lab

Gene Symbol

1700061G19Rik

Ensembl Gene

ENSMUSG00000024209

Gene Name

RIKEN cDNA 1700061G19 gene

Synonyms

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56875477-56888904 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56885169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 577 (Y577*)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025048]

AlphaFold

Q08EE8

Predicted Effect

probably null
Transcript: ENSMUST00000025048
AA Change: Y577*

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: Y577*

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
Pfam:AMP-binding	80	554	6.5e-68	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in 1700061G19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:1700061G19Rik	APN	17	56882203	nonsense	probably null
IGL01833:1700061G19Rik	APN	17	56881062	missense	probably benign	0.02
IGL02420:1700061G19Rik	APN	17	56880494	missense	probably damaging	1.00
IGL02969:1700061G19Rik	APN	17	56883751	missense	probably damaging	1.00
IGL03054:1700061G19Rik	UTSW	17	56886528	missense	possibly damaging	0.67
R0197:1700061G19Rik	UTSW	17	56883835	missense	probably benign	0.01
R0279:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0280:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0281:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0282:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0329:1700061G19Rik	UTSW	17	56883631	missense	probably benign	0.02
R0330:1700061G19Rik	UTSW	17	56883631	missense	probably benign	0.02
R0349:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0518:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0519:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0521:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0604:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0883:1700061G19Rik	UTSW	17	56883835	missense	probably benign	0.01
R1561:1700061G19Rik	UTSW	17	56877431	missense	probably benign
R1779:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R2008:1700061G19Rik	UTSW	17	56886478	missense	probably benign	0.04
R2102:1700061G19Rik	UTSW	17	56884949	nonsense	probably null
R2247:1700061G19Rik	UTSW	17	56877435	missense	possibly damaging	0.83
R2484:1700061G19Rik	UTSW	17	56882641	missense	probably benign	0.00
R2917:1700061G19Rik	UTSW	17	56885141	missense	probably damaging	1.00
R3149:1700061G19Rik	UTSW	17	56876348	missense	probably benign
R3773:1700061G19Rik	UTSW	17	56876262	start codon destroyed	probably null	0.00
R4829:1700061G19Rik	UTSW	17	56883500	splice site	probably null
R4860:1700061G19Rik	UTSW	17	56888655	missense	probably benign	0.09
R4860:1700061G19Rik	UTSW	17	56888655	missense	probably benign	0.09
R4887:1700061G19Rik	UTSW	17	56876324	missense	possibly damaging	0.84
R5043:1700061G19Rik	UTSW	17	56885198	missense	probably damaging	1.00
R5112:1700061G19Rik	UTSW	17	56877465	missense	probably benign	0.03
R5161:1700061G19Rik	UTSW	17	56882888	missense	possibly damaging	0.84
R5214:1700061G19Rik	UTSW	17	56886493	missense	probably benign
R5287:1700061G19Rik	UTSW	17	56876221	unclassified	probably benign
R5403:1700061G19Rik	UTSW	17	56876221	unclassified	probably benign
R5779:1700061G19Rik	UTSW	17	56881061	missense	probably benign	0.02
R5997:1700061G19Rik	UTSW	17	56876373	missense	probably benign	0.02
R6198:1700061G19Rik	UTSW	17	56882679	missense	probably damaging	1.00
R6259:1700061G19Rik	UTSW	17	56877513	missense	probably benign	0.04
R6357:1700061G19Rik	UTSW	17	56877591	critical splice donor site	probably null
R6754:1700061G19Rik	UTSW	17	56883358	missense	probably damaging	0.99
R6842:1700061G19Rik	UTSW	17	56877432	missense	probably benign	0.00
R7042:1700061G19Rik	UTSW	17	56885098	missense	possibly damaging	0.73
R7181:1700061G19Rik	UTSW	17	56881037	missense	probably benign	0.03
R7445:1700061G19Rik	UTSW	17	56882973	missense	possibly damaging	0.64
R7511:1700061G19Rik	UTSW	17	56882954	missense	probably damaging	0.98
R8122:1700061G19Rik	UTSW	17	56886670	missense	possibly damaging	0.50
R8553:1700061G19Rik	UTSW	17	56881021	missense	probably benign	0.02
R8919:1700061G19Rik	UTSW	17	56882218	missense	probably benign	0.00
R9460:1700061G19Rik	UTSW	17	56876316	missense	probably damaging	0.99
R9469:1700061G19Rik	UTSW	17	56876283	missense	probably benign	0.00
R9766:1700061G19Rik	UTSW	17	56882177	missense	probably benign	0.02
Z1177:1700061G19Rik	UTSW	17	56883463	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTCCACTTCCTAGAGAAGGGGAT -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTAAT -3'

Sequencing Primer
(F):5'- CACTTCCTAGAGAAGGGGATGTTTG -3'
(R):5'- ctcaccagtctcctcccc -3'

Posted On

2013-05-09