Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:1700061G19Rik'

37482

Institutional Source

Beutler Lab

Gene Symbol

1700061G19Rik

Ensembl Gene

ENSMUSG00000024209

Gene Name

RIKEN cDNA 1700061G19 gene

Synonyms

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0280 (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: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	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
R0257:1700061G19Rik	UTSW	17	56885169	nonsense	probably null
R0279:1700061G19Rik	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
Z1177:1700061G19Rik	UTSW	17	56883463	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCCACTTCCTAGAGAAGGGGATG -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTA -3'

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

Posted On

2013-05-23