Mutagenetix > Incidental Mutation

Incidental Mutation 'R0349:1700061G19Rik'

36123

Institutional Source

Beutler Lab

Gene Symbol

1700061G19Rik

Ensembl Gene

ENSMUSG00000024209

Gene Name

RIKEN cDNA 1700061G19 gene

Synonyms

MMRRC Submission

038556-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0349 (G1)

Quality Score

225

Status

Not 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: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,932,662 (GRCm38)	S285C	possibly damaging	Het
Abcc9	A	T	6: 142,664,625 (GRCm38)	N604K	probably benign	Het
Adgrl3	A	G	5: 81,771,644 (GRCm38)	T1192A	probably damaging	Het
Aldh1l2	A	T	10: 83,490,614 (GRCm38)	Y800N	probably damaging	Het
Ano3	A	T	2: 110,661,487 (GRCm38)	V865D	probably damaging	Het
App	A	T	16: 85,013,680 (GRCm38)	L545Q	probably damaging	Het
Atp10a	A	G	7: 58,803,467 (GRCm38)	D798G	probably damaging	Het
B3galnt2	T	C	13: 13,991,474 (GRCm38)	V318A	probably benign	Het
BC005561	T	C	5: 104,519,976 (GRCm38)	L788P	possibly damaging	Het
Clcn3	T	A	8: 60,941,348 (GRCm38)	D49V	possibly damaging	Het
Clcn6	T	A	4: 148,024,194 (GRCm38)	K126M	possibly damaging	Het
Cntln	T	A	4: 84,996,485 (GRCm38)	S510T	probably damaging	Het
Csk	A	C	9: 57,628,194 (GRCm38)	C290W	probably damaging	Het
Dmxl1	T	A	18: 49,879,282 (GRCm38)	M1502K	probably damaging	Het
Dpy19l2	T	A	9: 24,695,922 (GRCm38)	N81I	possibly damaging	Het
Dpyd	T	A	3: 118,917,099 (GRCm38)	C385*	probably null	Het
Dst	G	A	1: 34,199,553 (GRCm38)	V1765I	probably benign	Het
Eif5b	A	G	1: 38,032,366 (GRCm38)	S459G	probably benign	Het
Fam105a	T	A	15: 27,664,790 (GRCm38)	I27L	probably benign	Het
Fam83d	A	G	2: 158,779,848 (GRCm38)	I160V	possibly damaging	Het
Fat3	A	G	9: 16,031,180 (GRCm38)	F1299L	probably damaging	Het
Fmn1	A	G	2: 113,365,796 (GRCm38)	I614V	unknown	Het
Fsd1l	T	A	4: 53,679,854 (GRCm38)	V184E	probably damaging	Het
Fyco1	A	G	9: 123,797,662 (GRCm38)	V1328A	probably damaging	Het
Ganab	T	A	19: 8,911,652 (GRCm38)	N572K	probably null	Het
Gbp10	T	A	5: 105,221,076 (GRCm38)	D299V	possibly damaging	Het
Gm13078	T	G	4: 143,727,059 (GRCm38)	W246G	probably benign	Het
Gpr83	T	G	9: 14,868,267 (GRCm38)	L205R	probably damaging	Het
Hapln2	G	A	3: 88,023,629 (GRCm38)	P152S	probably damaging	Het
Htatip2	T	C	7: 49,773,392 (GRCm38)	Y232H	probably benign	Het
Itga2b	C	T	11: 102,467,426 (GRCm38)	V158I	probably damaging	Het
Kansl3	T	C	1: 36,351,783 (GRCm38)	D390G	probably damaging	Het
Kcnh2	T	C	5: 24,351,237 (GRCm38)	D16G	probably benign	Het
Kctd8	A	T	5: 69,341,010 (GRCm38)	F98I	probably damaging	Het
Kif21b	A	T	1: 136,149,311 (GRCm38)	E357V	probably damaging	Het
Kmt5c	C	T	7: 4,746,595 (GRCm38)	R371C	probably damaging	Het
Kndc1	T	C	7: 139,910,304 (GRCm38)	F241L	probably benign	Het
Lrba	A	G	3: 86,540,005 (GRCm38)	D2052G	probably damaging	Het
Lsr	T	A	7: 30,959,273 (GRCm38)	I54F	probably damaging	Het
Matk	G	T	10: 81,258,494 (GRCm38)	L28F	probably benign	Het
Mdn1	T	C	4: 32,750,318 (GRCm38)	L4429P	probably damaging	Het
Med29	CCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGC	7: 28,392,510 (GRCm38)		probably benign	Het
Msln	G	T	17: 25,750,276 (GRCm38)	Q407K	possibly damaging	Het
Msr1	C	T	8: 39,581,827 (GRCm38)	G428R	probably damaging	Het
Myof	A	G	19: 37,910,969 (GRCm38)	I1040T	probably damaging	Het
Nckap5	A	G	1: 126,026,434 (GRCm38)	S794P	probably benign	Het
Nfkbiz	C	T	16: 55,818,991 (GRCm38)		probably null	Het
Nr2c1	C	T	10: 94,195,182 (GRCm38)	S535L	probably damaging	Het
Olfr1448	A	T	19: 12,919,935 (GRCm38)	C125S	probably damaging	Het
Olfr665	A	T	7: 104,880,992 (GRCm38)	D95V	possibly damaging	Het
Olfr747	G	A	14: 50,681,254 (GRCm38)	R127C	probably benign	Het
Opn3	A	C	1: 175,692,304 (GRCm38)	L78R	probably damaging	Het
Pcdhb9	A	G	18: 37,402,579 (GRCm38)	N542S	probably damaging	Het
Pdc	T	A	1: 150,333,427 (GRCm38)	N220K	probably benign	Het
Pde6c	A	T	19: 38,162,349 (GRCm38)	N569Y	probably damaging	Het
Pgm2	A	T	4: 99,963,617 (GRCm38)	K219M	probably damaging	Het
Pitpnb	C	T	5: 111,347,126 (GRCm38)	T99M	possibly damaging	Het
Pou6f2	T	A	13: 18,152,004 (GRCm38)	Q71L	probably damaging	Het
Prkd1	C	A	12: 50,366,356 (GRCm38)	L677F	probably damaging	Het
Ranbp17	T	C	11: 33,500,689 (GRCm38)	I78V	probably benign	Het
Rnft2	T	A	5: 118,201,385 (GRCm38)	K362M	possibly damaging	Het
Rprd1a	T	A	18: 24,506,847 (GRCm38)	E259V	possibly damaging	Het
Scara3	A	T	14: 65,931,781 (GRCm38)	I129N	probably damaging	Het
Scgb1a1	A	T	19: 9,085,389 (GRCm38)		probably null	Het
Sec16b	A	T	1: 157,532,176 (GRCm38)		probably null	Het
Slc18a1	A	T	8: 69,072,101 (GRCm38)	M167K	probably damaging	Het
Slc6a15	C	T	10: 103,418,225 (GRCm38)	A674V	probably benign	Het
Slc6a3	T	C	13: 73,567,557 (GRCm38)	F437S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Stag1	T	A	9: 100,776,784 (GRCm38)	N141K	probably damaging	Het
Sun2	T	C	15: 79,730,232 (GRCm38)	E321G	probably damaging	Het
Taar2	C	A	10: 23,941,429 (GRCm38)	T289K	possibly damaging	Het
Taar2	T	C	10: 23,941,509 (GRCm38)	Y316H	probably benign	Het
Tbcd	T	A	11: 121,602,983 (GRCm38)		probably null	Het
Tecr	G	A	8: 83,572,275 (GRCm38)	T106I	probably damaging	Het
Tmem60	T	G	5: 20,886,630 (GRCm38)	V131G	probably benign	Het
Uimc1	A	G	13: 55,075,991 (GRCm38)	V156A	probably benign	Het
Usp28	G	A	9: 49,010,281 (GRCm38)	W266*	probably null	Het
Vmn2r17	T	A	5: 109,428,336 (GRCm38)	S358T	probably damaging	Het
Wwc2	T	A	8: 47,868,666 (GRCm38)	Y471F	unknown	Het
Ythdc1	C	T	5: 86,835,720 (GRCm38)	R675C	probably damaging	Het
Zfp30	T	C	7: 29,793,604 (GRCm38)	S428P	probably damaging	Het
Zfp462	T	A	4: 55,008,768 (GRCm38)	C245S	probably benign	Het
Zscan30	T	C	18: 23,971,398 (GRCm38)		noncoding transcript	Het

Other mutations in 1700061G19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:1700061G19Rik	APN	17	56,882,203 (GRCm38)	nonsense	probably null
IGL01833:1700061G19Rik	APN	17	56,881,062 (GRCm38)	missense	probably benign	0.02
IGL02420:1700061G19Rik	APN	17	56,880,494 (GRCm38)	missense	probably damaging	1.00
IGL02969:1700061G19Rik	APN	17	56,883,751 (GRCm38)	missense	probably damaging	1.00
IGL03054:1700061G19Rik	UTSW	17	56,886,528 (GRCm38)	missense	possibly damaging	0.67
R0197:1700061G19Rik	UTSW	17	56,883,835 (GRCm38)	missense	probably benign	0.01
R0257:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0279:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0280:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0281:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0282:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0329:1700061G19Rik	UTSW	17	56,883,631 (GRCm38)	missense	probably benign	0.02
R0330:1700061G19Rik	UTSW	17	56,883,631 (GRCm38)	missense	probably benign	0.02
R0518:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0519:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0521:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0604:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R0883:1700061G19Rik	UTSW	17	56,883,835 (GRCm38)	missense	probably benign	0.01
R1561:1700061G19Rik	UTSW	17	56,877,431 (GRCm38)	missense	probably benign
R1779:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
R2008:1700061G19Rik	UTSW	17	56,886,478 (GRCm38)	missense	probably benign	0.04
R2102:1700061G19Rik	UTSW	17	56,884,949 (GRCm38)	nonsense	probably null
R2247:1700061G19Rik	UTSW	17	56,877,435 (GRCm38)	missense	possibly damaging	0.83
R2484:1700061G19Rik	UTSW	17	56,882,641 (GRCm38)	missense	probably benign	0.00
R2917:1700061G19Rik	UTSW	17	56,885,141 (GRCm38)	missense	probably damaging	1.00
R3149:1700061G19Rik	UTSW	17	56,876,348 (GRCm38)	missense	probably benign
R3773:1700061G19Rik	UTSW	17	56,876,262 (GRCm38)	start codon destroyed	probably null	0.00
R4829:1700061G19Rik	UTSW	17	56,883,500 (GRCm38)	splice site	probably null
R4860:1700061G19Rik	UTSW	17	56,888,655 (GRCm38)	missense	probably benign	0.09
R4860:1700061G19Rik	UTSW	17	56,888,655 (GRCm38)	missense	probably benign	0.09
R4887:1700061G19Rik	UTSW	17	56,876,324 (GRCm38)	missense	possibly damaging	0.84
R5043:1700061G19Rik	UTSW	17	56,885,198 (GRCm38)	missense	probably damaging	1.00
R5112:1700061G19Rik	UTSW	17	56,877,465 (GRCm38)	missense	probably benign	0.03
R5161:1700061G19Rik	UTSW	17	56,882,888 (GRCm38)	missense	possibly damaging	0.84
R5214:1700061G19Rik	UTSW	17	56,886,493 (GRCm38)	missense	probably benign
R5287:1700061G19Rik	UTSW	17	56,876,221 (GRCm38)	unclassified	probably benign
R5403:1700061G19Rik	UTSW	17	56,876,221 (GRCm38)	unclassified	probably benign
R5779:1700061G19Rik	UTSW	17	56,881,061 (GRCm38)	missense	probably benign	0.02
R5997:1700061G19Rik	UTSW	17	56,876,373 (GRCm38)	missense	probably benign	0.02
R6198:1700061G19Rik	UTSW	17	56,882,679 (GRCm38)	missense	probably damaging	1.00
R6259:1700061G19Rik	UTSW	17	56,877,513 (GRCm38)	missense	probably benign	0.04
R6357:1700061G19Rik	UTSW	17	56,877,591 (GRCm38)	critical splice donor site	probably null
R6754:1700061G19Rik	UTSW	17	56,883,358 (GRCm38)	missense	probably damaging	0.99
R6842:1700061G19Rik	UTSW	17	56,877,432 (GRCm38)	missense	probably benign	0.00
R7042:1700061G19Rik	UTSW	17	56,885,098 (GRCm38)	missense	possibly damaging	0.73
R7181:1700061G19Rik	UTSW	17	56,881,037 (GRCm38)	missense	probably benign	0.03
R7445:1700061G19Rik	UTSW	17	56,882,973 (GRCm38)	missense	possibly damaging	0.64
R7511:1700061G19Rik	UTSW	17	56,882,954 (GRCm38)	missense	probably damaging	0.98
R8122:1700061G19Rik	UTSW	17	56,886,670 (GRCm38)	missense	possibly damaging	0.50
R8553:1700061G19Rik	UTSW	17	56,881,021 (GRCm38)	missense	probably benign	0.02
R8919:1700061G19Rik	UTSW	17	56,882,218 (GRCm38)	missense	probably benign	0.00
R9460:1700061G19Rik	UTSW	17	56,876,316 (GRCm38)	missense	probably damaging	0.99
R9469:1700061G19Rik	UTSW	17	56,876,283 (GRCm38)	missense	probably benign	0.00
R9766:1700061G19Rik	UTSW	17	56,882,177 (GRCm38)	missense	probably benign	0.02
Z1177:1700061G19Rik	UTSW	17	56,883,463 (GRCm38)	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

2013-05-09