Mutagenetix > Incidental Mutations

Incidental Mutation 'R5779:1700061G19Rik'

446900

Institutional Source

Beutler Lab

Gene Symbol

1700061G19Rik

Ensembl Gene

ENSMUSG00000024209

Gene Name

RIKEN cDNA 1700061G19 gene

Synonyms

MMRRC Submission

043377-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5779 (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 56881061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 190 (N190Y)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

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

AlphaFold

Q08EE8

Predicted Effect

probably benign
Transcript: ENSMUST00000025048
AA Change: N190Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: N190Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125425

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	G	1: 105,687,347	N246K	probably damaging	Het
Abca6	T	C	11: 110,184,670	M1332V	probably benign	Het
Afg3l2	T	C	18: 67,440,443	K132R	probably null	Het
Arap3	T	C	18: 37,984,365	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,651,676		probably null	Het
Cdk12	T	A	11: 98,219,074	S640R	probably benign	Het
Ceacam12	C	A	7: 18,069,154	P162T	probably benign	Het
Chrna5	C	A	9: 54,998,104	H67N	probably benign	Het
Copb1	T	A	7: 114,219,572	D837V	probably damaging	Het
D11Wsu47e	A	G	11: 113,687,992	D71G	probably benign	Het
Dcaf5	C	T	12: 80,338,832	R840H	probably benign	Het
Ect2l	T	A	10: 18,163,438	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,646,273	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,412,963	N208T	possibly damaging	Het
Ext1	A	G	15: 53,344,553	Y271H	probably damaging	Het
Fam173a	A	G	17: 25,790,657	V194A	probably benign	Het
Fbxo5	G	A	10: 5,800,303	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,624,226	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,817,021		probably benign	Het
Gucy1b2	C	A	14: 62,414,301	L400F	possibly damaging	Het
Hgd	T	A	16: 37,593,371	L24H	probably benign	Het
Hmx3	C	A	7: 131,544,328	S255*	probably null	Het
Ifrd1	A	T	12: 40,203,370	F448I	probably damaging	Het
Igfn1	T	A	1: 135,966,840	E1996V	probably benign	Het
Itpr1	G	A	6: 108,352,143	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,118,534	S26P	probably benign	Het
Kctd17	A	T	15: 78,437,133		probably benign	Het
Matr3	T	C	18: 35,584,522	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,151,666	A90V	probably benign	Het
Mrpl20	G	A	4: 155,806,921	R34Q	probably damaging	Het
Neb	A	T	2: 52,245,301	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,452,339		probably benign	Het
Npas2	A	T	1: 39,287,571	T46S	possibly damaging	Het
Nsd3	G	T	8: 25,682,669	E815*	probably null	Het
Nup98	C	A	7: 102,152,361	V786L	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,301,467	V162A	probably benign	Het
Pcgf2	G	A	11: 97,690,291	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318	F110L	probably damaging	Het
Scfd1	A	G	12: 51,431,529	N508S	probably benign	Het
Scn2a	T	C	2: 65,764,483	V1892A	probably benign	Het
Sema6a	G	A	18: 47,248,826	R885C	probably damaging	Het
Sik2	T	C	9: 50,895,845	H755R	probably benign	Het
Slc36a3	A	T	11: 55,135,268	Y241*	probably null	Het
Smg5	T	C	3: 88,351,618		probably benign	Het
Spag9	A	G	11: 94,114,253	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,036,945	M53V	probably benign	Het
Tpr	C	T	1: 150,423,541	A1090V	probably damaging	Het
Traf5	T	A	1: 191,997,672	R473W	probably damaging	Het
Ush2a	T	C	1: 188,443,510		probably null	Het
Vit	A	G	17: 78,546,426	T34A	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
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
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'- AAAGAGTTTCCCCTGAGCCC -3'
(R):5'- CGCTCACAGGTACTCACTAAAGG -3'

Sequencing Primer
(F):5'- TTCCAACAGAGTATGAAGACTCC -3'
(R):5'- TCACAGGTACTCACTAAAGGATGGC -3'

Posted On

2016-12-15