Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:1700061G19Rik'

80945

Institutional Source

Beutler Lab

Gene Symbol

1700061G19Rik

Ensembl Gene

ENSMUSG00000024209

Gene Name

RIKEN cDNA 1700061G19 gene

Synonyms

MMRRC Submission

039050-MU

Accession Numbers

Essential gene?

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

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56875477-56888904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56883835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 468 (N468Y)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

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

AlphaFold

Q08EE8

Predicted Effect

probably benign
Transcript: ENSMUST00000025048
AA Change: N468Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: N468Y

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

0.1576

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

Allele List at MGI

Other mutations in this stock

Total: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871 (GRCm38)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821 (GRCm38)	*118W	probably null	Het
4930595M18Rik	G	T	X: 81,420,931 (GRCm38)	T390N	possibly damaging	Het
Abca13	C	T	11: 9,291,238 (GRCm38)	Q1034*	probably null	Het
Adgra3	T	C	5: 49,960,723 (GRCm38)	H1161R	probably damaging	Het
AF529169	T	C	9: 89,602,417 (GRCm38)	H309R	probably benign	Het
Aff1	T	C	5: 103,826,138 (GRCm38)		probably benign	Het
Agap2	A	G	10: 127,091,702 (GRCm38)	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 65,985,132 (GRCm38)	V1102A	probably benign	Het
Ankrd54	A	T	15: 79,062,731 (GRCm38)	C23S	probably damaging	Het
Anxa10	C	T	8: 62,077,967 (GRCm38)	V70I	probably benign	Het
Asap3	T	C	4: 136,234,325 (GRCm38)		probably benign	Het
Asb13	T	C	13: 3,645,052 (GRCm38)		probably null	Het
Atp6v1a	A	T	16: 44,101,692 (GRCm38)		probably benign	Het
Atp8b1	T	G	18: 64,564,541 (GRCm38)	I411L	probably benign	Het
Baiap3	T	A	17: 25,249,101 (GRCm38)	N313I	probably damaging	Het
Bok	T	C	1: 93,686,487 (GRCm38)	I14T	probably benign	Het
Bri3bp	T	A	5: 125,441,744 (GRCm38)		probably null	Het
C2cd2l	A	G	9: 44,316,202 (GRCm38)	L186P	probably damaging	Het
Cadm2	A	T	16: 66,882,814 (GRCm38)	C44S	probably damaging	Het
Capn11	T	C	17: 45,638,881 (GRCm38)		probably benign	Het
Carm1	T	A	9: 21,569,591 (GRCm38)		probably benign	Het
Ccdc189	T	C	7: 127,584,862 (GRCm38)	E261G	probably damaging	Het
Ccdc27	T	C	4: 154,036,484 (GRCm38)	E285G	unknown	Het
Cct3	T	A	3: 88,313,557 (GRCm38)	D298E	probably damaging	Het
Cd59b	T	A	2: 104,080,986 (GRCm38)		probably benign	Het
Cdh2	T	C	18: 16,629,576 (GRCm38)	N437S	probably benign	Het
Celsr3	T	A	9: 108,842,633 (GRCm38)	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,415,906 (GRCm38)		probably benign	Het
Cfap45	A	T	1: 172,532,189 (GRCm38)	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,870,669 (GRCm38)	H2757L	unknown	Het
Chd1	C	A	17: 15,725,431 (GRCm38)	N72K	probably benign	Het
Cntn4	A	T	6: 106,667,540 (GRCm38)		probably benign	Het
Cstf2t	A	T	19: 31,084,626 (GRCm38)	M521L	probably benign	Het
Daam2	A	T	17: 49,498,883 (GRCm38)		probably benign	Het
Ddias	A	T	7: 92,859,337 (GRCm38)	W457R	probably benign	Het
Ddr2	C	T	1: 169,994,629 (GRCm38)	V417I	probably benign	Het
Dhx57	T	C	17: 80,270,371 (GRCm38)	T570A	probably damaging	Het
Dmp1	A	G	5: 104,207,630 (GRCm38)	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,801,788 (GRCm38)	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,649,271 (GRCm38)	M286I	probably benign	Het
Eea1	G	A	10: 96,021,667 (GRCm38)	D664N	possibly damaging	Het
Esp6	G	T	17: 40,565,396 (GRCm38)	V112L	probably benign	Het
Fam83h	G	T	15: 76,006,169 (GRCm38)	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474 (GRCm38)	T802I	probably benign	Het
Gart	C	A	16: 91,623,403 (GRCm38)	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,228,095 (GRCm38)	H161Q	probably damaging	Het
Gm10912	T	C	2: 104,066,530 (GRCm38)	S5P	probably benign	Het
Gm4907	A	T	X: 23,907,051 (GRCm38)	I264F	probably benign	Het
Gm5941	G	A	X: 92,490,211 (GRCm38)	A62T	possibly damaging	Het
Gng2	G	T	14: 19,891,295 (GRCm38)	D26E	probably benign	Het
Gpr33	A	G	12: 52,023,635 (GRCm38)	V207A	probably benign	Het
Gstm3	T	A	3: 107,966,270 (GRCm38)		probably benign	Het
Havcr1	T	C	11: 46,752,432 (GRCm38)	C60R	probably damaging	Het
Hspg2	T	C	4: 137,541,440 (GRCm38)	S2157P	probably benign	Het
Ift140	A	G	17: 25,090,933 (GRCm38)	T1105A	probably benign	Het
Igsf8	C	A	1: 172,316,259 (GRCm38)	A56D	possibly damaging	Het
Kat6a	G	T	8: 22,862,214 (GRCm38)	A5S	probably damaging	Het
Kctd16	A	G	18: 40,530,775 (GRCm38)	E319G	probably damaging	Het
Kmo	T	C	1: 175,647,140 (GRCm38)	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,605,308 (GRCm38)	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,561,278 (GRCm38)	T253A	probably benign	Het
Mast2	T	A	4: 116,311,767 (GRCm38)	H769L	probably damaging	Het
Mast4	T	C	13: 102,853,900 (GRCm38)	K50E	probably damaging	Het
Mbd5	A	G	2: 49,256,689 (GRCm38)	T304A	possibly damaging	Het
Mbp	T	C	18: 82,572,870 (GRCm38)	S73P	probably damaging	Het
Mc5r	T	A	18: 68,339,092 (GRCm38)	V174E	probably damaging	Het
Med13	T	A	11: 86,307,038 (GRCm38)	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002 (GRCm38)		probably benign	Het
Mlh3	C	G	12: 85,235,714 (GRCm38)	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,359,991 (GRCm38)		probably benign	Het
Muc5ac	A	G	7: 141,796,265 (GRCm38)	T582A	possibly damaging	Het
Mum1l1	T	A	X: 139,235,695 (GRCm38)	D327E	probably damaging	Het
Nalcn	A	G	14: 123,464,740 (GRCm38)	F453S	probably damaging	Het
Nrap	T	A	19: 56,345,474 (GRCm38)	M902L	probably damaging	Het
Nup85	C	T	11: 115,568,370 (GRCm38)	R100*	probably null	Het
Nxf1	T	G	19: 8,764,591 (GRCm38)	N296K	probably damaging	Het
Ogg1	A	G	6: 113,328,420 (GRCm38)	T65A	probably damaging	Het
Ogt	A	G	X: 101,644,199 (GRCm38)		probably benign	Het
Olfr1258	A	G	2: 89,930,201 (GRCm38)	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791 (GRCm38)	V69I	probably benign	Het
Olfr504	T	A	7: 108,565,276 (GRCm38)	N173I	probably benign	Het
Olfr558	T	A	7: 102,709,995 (GRCm38)	H245Q	probably damaging	Het
Ovol2	T	C	2: 144,331,790 (GRCm38)	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,054 (GRCm38)		probably benign	Het
Pak6	T	C	2: 118,693,687 (GRCm38)	L441P	probably damaging	Het
Pappa	T	A	4: 65,189,315 (GRCm38)	C654*	probably null	Het
Paqr6	T	A	3: 88,365,991 (GRCm38)	S97T	probably damaging	Het
Parp14	T	C	16: 35,858,518 (GRCm38)	N360S	probably benign	Het
Pclo	G	T	5: 14,677,859 (GRCm38)	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,155,942 (GRCm38)		probably null	Het
Pes1	T	C	11: 3,975,557 (GRCm38)	M220T	probably damaging	Het
Phip	A	T	9: 82,876,221 (GRCm38)	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,430,268 (GRCm38)		probably null	Het
Plch1	T	C	3: 63,753,256 (GRCm38)	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,618,031 (GRCm38)	T1419A	probably benign	Het
Ppara	A	T	15: 85,798,171 (GRCm38)	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,532,177 (GRCm38)	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,639,710 (GRCm38)	E545G	possibly damaging	Het
Proser3	G	A	7: 30,540,699 (GRCm38)	H327Y	probably damaging	Het
Prss43	T	A	9: 110,829,508 (GRCm38)	I292N	probably damaging	Het
Pygl	G	C	12: 70,206,404 (GRCm38)	N271K	probably damaging	Het
Rassf7	T	A	7: 141,216,990 (GRCm38)		probably benign	Het
Rfx2	T	C	17: 56,803,722 (GRCm38)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478 (GRCm38)	V214A	probably benign	Het
Rspo1	T	A	4: 124,991,432 (GRCm38)		probably null	Het
Sav1	A	C	12: 69,966,205 (GRCm38)	L366V	probably benign	Het
Sema3b	T	G	9: 107,604,156 (GRCm38)	T52P	possibly damaging	Het
Senp6	A	G	9: 80,116,559 (GRCm38)	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,268,207 (GRCm38)	S719P	probably damaging	Het
Shank1	C	T	7: 44,352,294 (GRCm38)	R1146W	unknown	Het
Slc34a3	G	T	2: 25,231,233 (GRCm38)	D307E	probably benign	Het
Slc35b3	T	C	13: 38,937,275 (GRCm38)	I330V	probably benign	Het
Slc4a10	G	A	2: 62,243,398 (GRCm38)	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,421,399 (GRCm38)	E65G	probably benign	Het
Slit2	A	G	5: 48,245,573 (GRCm38)		probably benign	Het
Smcr8	T	C	11: 60,778,115 (GRCm38)	Y30H	probably damaging	Het
Snap47	A	G	11: 59,438,500 (GRCm38)		probably benign	Het
Snrnp25	G	A	11: 32,206,960 (GRCm38)	V15I	probably damaging	Het
Spns2	T	C	11: 72,454,397 (GRCm38)	Y449C	probably damaging	Het
Stab2	T	A	10: 86,924,450 (GRCm38)		probably benign	Het
Strip1	C	A	3: 107,614,613 (GRCm38)	D750Y	probably damaging	Het
Taf1c	A	T	8: 119,599,983 (GRCm38)	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003 (GRCm38)	K745*	probably null	Het
Tctn1	T	C	5: 122,264,144 (GRCm38)	T76A	probably damaging	Het
Tfpi	T	C	2: 84,443,320 (GRCm38)		probably benign	Het
Timm44	A	T	8: 4,266,592 (GRCm38)	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,530,014 (GRCm38)		probably benign	Het
Tnpo3	A	T	6: 29,554,993 (GRCm38)		probably benign	Het
Top3b	T	C	16: 16,879,437 (GRCm38)		probably benign	Het
Trak1	T	A	9: 121,453,285 (GRCm38)	M410K	possibly damaging	Het
Trpm3	C	A	19: 22,978,654 (GRCm38)	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,111,137 (GRCm38)	T799S	possibly damaging	Het
Ubfd1	G	A	7: 122,067,491 (GRCm38)		probably benign	Het
Unc13a	G	A	8: 71,642,173 (GRCm38)	R1272*	probably null	Het
Unc45b	T	A	11: 82,940,205 (GRCm38)	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,030,970 (GRCm38)	Q1139*	probably null	Het
Vmn2r66	A	T	7: 85,007,862 (GRCm38)	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,623,634 (GRCm38)	D552V	probably benign	Het
Vmn2r76	A	G	7: 86,228,696 (GRCm38)	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,391,115 (GRCm38)	W285G	probably damaging	Het
Vps72	G	T	3: 95,122,583 (GRCm38)	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441 (GRCm38)	I907N	probably damaging	Het
Yaf2	T	C	15: 93,285,536 (GRCm38)	K131R	probably damaging	Het
Zfp141	A	T	7: 42,476,056 (GRCm38)	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,971,024 (GRCm38)	C380F	probably damaging	Het
Zfp521	T	C	18: 13,845,062 (GRCm38)	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674 (GRCm38)	H923L	probably damaging	Het
Zfpm1	C	T	8: 122,335,846 (GRCm38)	T548M	probably damaging	Het
Zp2	A	T	7: 120,143,576 (GRCm38)		probably benign	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
R0349:1700061G19Rik	UTSW	17	56,885,169 (GRCm38)	nonsense	probably null
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
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'- TTCTAAAGGGAGATCCACCAGCCG -3'
(R):5'- TGCCAGGCTCACTCTCAGAAGAAG -3'

Sequencing Primer
(F):5'- ACCAGCCGCTGTGCTTC -3'
(R):5'- GATACCCAAAACTTGCTTGGTACTC -3'

Posted On

2013-11-07