Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:1700123K08Rik'

645466

Institutional Source

Beutler Lab

Gene Symbol

1700123K08Rik

Ensembl Gene

ENSMUSG00000029526

Gene Name

RIKEN cDNA 1700123K08 gene

Synonyms

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_029693.2; MGI:1923908

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138561840-138564712 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138562926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 158 (T158M)

Ref Sequence

ENSEMBL: ENSMUSP00000031501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031501]

AlphaFold

Q9D991

Predicted Effect

probably benign
Transcript: ENSMUST00000031501
AA Change: T158M

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031501
Gene: ENSMUSG00000029526
AA Change: T158M

Domain	Start	End	E-Value	Type
SCOP:d1bkds_	48	165	6e-22	SMART
Blast:RasGEFN	66	182	2e-57	BLAST
low complexity region	263	282	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin2	T	A	4: 34,551,082	F13Y	probably damaging	Het
Arhgef2	G	A	3: 88,646,220	R886H	probably damaging	Het
Armc12	T	A	17: 28,532,057	D82E	probably damaging	Het
Atg2a	T	C	19: 6,246,811	S382P	probably benign	Het
Bola1	G	A	3: 96,197,257	A7V	probably benign	Het
Cep170	A	G	1: 176,736,879	L271S		Het
Cers3	T	C	7: 66,764,342	F92S	possibly damaging	Het
Chmp4c	A	T	3: 10,385,686	M109L	possibly damaging	Het
Cnmd	T	A	14: 79,645,381	K202*	probably null	Het
Cnp	T	C	11: 100,576,441	I70T	probably damaging	Het
Col27a1	C	A	4: 63,329,897	T1721K	unknown	Het
Crtac1	G	A	19: 42,309,186	R242W	probably damaging	Het
Cry2	T	C	2: 92,413,941	R296G	probably benign	Het
Cyp2t4	A	G	7: 27,157,381	D282G	possibly damaging	Het
Dip2a	G	T	10: 76,264,856	T1495N	probably damaging	Het
Dmbt1	T	C	7: 131,085,417		probably null	Het
Dmp1	A	T	5: 104,212,899	K480N	probably damaging	Het
Dnah17	A	G	11: 118,087,047	S1820P	probably damaging	Het
Dnah6	A	G	6: 73,195,815	V220A	probably benign	Het
Epha3	T	C	16: 63,652,490	D344G	possibly damaging	Het
Esyt2	C	A	12: 116,363,482	Q557K	probably damaging	Het
Fam72a	A	T	1: 131,533,925	D116V	probably damaging	Het
Fam81a	T	C	9: 70,125,018	N64S	probably damaging	Het
Fat3	T	A	9: 15,915,139	T358S		Het
Frat2	A	T	19: 41,847,784	I43N	probably damaging	Het
Fryl	A	T	5: 73,068,730	D1863E	probably benign	Het
Gm43302	A	T	5: 105,274,707		probably null	Het
Gm8994	C	T	6: 136,329,243	T234I	possibly damaging	Het
Grid2ip	A	G	5: 143,377,518	Y422C	probably damaging	Het
Hap1	T	G	11: 100,349,281	D563A	probably damaging	Het
Hbb-bs	T	C	7: 103,826,744	D122G	probably benign	Het
Hs3st3b1	G	C	11: 63,889,564	P246A	probably benign	Het
Hsd17b4	T	G	18: 50,164,667	L341R	probably benign	Het
Kbtbd11	G	A	8: 15,028,603	V401M	probably damaging	Het
Lss	T	A	10: 76,535,595	L120Q	probably damaging	Het
Mdc1	T	G	17: 35,848,299	S524A	probably benign	Het
Myoz3	T	C	18: 60,579,002	Y168C	probably damaging	Het
Nceh1	C	A	3: 27,239,664	D190E	probably damaging	Het
Neb	T	C	2: 52,206,182	R5039G	probably benign	Het
Nup50	T	A	15: 84,935,275	V250E	probably benign	Het
Pcnx3	T	A	19: 5,673,226	N1314Y	probably damaging	Het
Pdzk1	A	G	3: 96,851,708	N143S	probably benign	Het
Rnf223	T	G	4: 156,132,663	L165R	probably damaging	Het
Sbf1	A	T	15: 89,299,509	F1267Y	probably damaging	Het
Scrn3	T	G	2: 73,329,769	I252R	possibly damaging	Het
Sdr39u1	T	C	14: 55,897,906	I193M	probably damaging	Het
Sh2d7	A	G	9: 54,540,907	R71G	probably benign	Het
Slc12a9	C	A	5: 137,315,475	V741L	probably benign	Het
Syk	T	C	13: 52,620,899	L225P	probably damaging	Het
Tbx1	A	T	16: 18,582,045	V463E	unknown	Het
Tmem67	C	T	4: 12,087,891	R19H	probably benign	Het
Ttn	T	A	2: 76,778,764	I17666F	possibly damaging	Het
Vcpip1	A	G	1: 9,724,606	V1180A	probably benign	Het
Wdr27	T	C	17: 14,932,525	T107A	probably benign	Het
Zfp106	T	C	2: 120,535,618	R58G		Het

Other mutations in 1700123K08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:1700123K08Rik	APN	5	138562489	missense	probably benign	0.01
IGL02318:1700123K08Rik	APN	5	138563576	missense	probably damaging	1.00
IGL02451:1700123K08Rik	APN	5	138563547	missense	probably damaging	1.00
IGL03263:1700123K08Rik	APN	5	138564237	missense	probably damaging	0.98
P0016:1700123K08Rik	UTSW	5	138562938	nonsense	probably null
R0686:1700123K08Rik	UTSW	5	138564537	missense	possibly damaging	0.70
R2051:1700123K08Rik	UTSW	5	138564185	missense	probably damaging	1.00
R2055:1700123K08Rik	UTSW	5	138562845	missense	probably damaging	0.99
R2185:1700123K08Rik	UTSW	5	138563567	missense	probably damaging	1.00
R2761:1700123K08Rik	UTSW	5	138564174	missense	possibly damaging	0.72
R4233:1700123K08Rik	UTSW	5	138564192	missense	probably damaging	1.00
R5610:1700123K08Rik	UTSW	5	138564141	critical splice donor site	probably null
R7136:1700123K08Rik	UTSW	5	138562348	missense	probably damaging	0.98
R7365:1700123K08Rik	UTSW	5	138562936	missense	probably benign	0.34
R8130:1700123K08Rik	UTSW	5	138563009	missense	probably damaging	0.98
R8347:1700123K08Rik	UTSW	5	138562891	missense	probably benign	0.00
R8351:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
R8352:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
R8450:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
R8451:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
R8452:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
R8475:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
R9176:1700123K08Rik	UTSW	5	138562893	missense	probably damaging	1.00
R9222:1700123K08Rik	UTSW	5	138562300	missense	unknown
Z1176:1700123K08Rik	UTSW	5	138563553	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAACTCTGGAGAATACCCCGG -3'
(R):5'- ACTATGCTCATCTGCAGACAGG -3'

Sequencing Primer
(F):5'- TCTGGAGAATACCCCGGTGAAATC -3'
(R):5'- TCATCTGCAGACAGGCTGGC -3'

Posted On

2020-09-02