Mutagenetix > Incidental Mutations

Incidental Mutation 'R4233:1700123K08Rik'

320956

Institutional Source

Beutler Lab

Gene Symbol

1700123K08Rik

Ensembl Gene

ENSMUSG00000029526

Gene Name

RIKEN cDNA 1700123K08 gene

Synonyms

MMRRC Submission

041642-MU

Accession Numbers

NCBI RefSeq: NM_029693.2; MGI:1923908

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138561840-138564712 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138564192 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 96 (Y96N)

Ref Sequence

ENSEMBL: ENSMUSP00000031501 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031501
AA Change: Y96N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031501
Gene: ENSMUSG00000029526
AA Change: Y96N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199968

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 120,402,979	Q1572*	probably null	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Aph1c	A	G	9: 66,833,321	F41S	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Arhgef40	T	C	14: 51,990,171	V458A	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Ccar2	T	C	14: 70,151,091	T169A	possibly damaging	Het
Cfap58	G	A	19: 47,975,555	V541M	possibly damaging	Het
Coro2b	T	C	9: 62,426,185	E376G	possibly damaging	Het
Dnah11	T	C	12: 117,916,791	T3865A	probably damaging	Het
Dync2h1	T	C	9: 7,134,360	E1549G	probably benign	Het
Ercc6l2	T	C	13: 63,872,168		probably benign	Het
Fam160b2	A	C	14: 70,586,878	V473G	probably damaging	Het
Fbxo32	G	T	15: 58,192,333	T135K	possibly damaging	Het
Fras1	A	T	5: 96,714,376	I2205F	possibly damaging	Het
Gm12034	A	G	11: 20,446,785		noncoding transcript	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Gm5108	C	A	5: 67,975,153	T55K	unknown	Het
Gpa33	A	T	1: 166,146,771	D59V	probably damaging	Het
Gpn2	T	A	4: 133,584,705	Y83N	probably damaging	Het
Gzf1	C	T	2: 148,686,533	P460S	possibly damaging	Het
Ifi203	A	T	1: 173,936,533	S124R	possibly damaging	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ldlrap1	T	A	4: 134,757,338		probably null	Het
Madd	T	C	2: 91,178,236	E107G	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr658	A	G	7: 104,644,988	V126A	probably benign	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	T	1: 97,864,394	V434D	possibly damaging	Het
Plxnd1	T	C	6: 115,965,953	N1257D	probably benign	Het
Prkdc	C	T	16: 15,835,919	A3870V	probably benign	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	T	C	13: 11,750,725	D1375G	probably benign	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slc13a2	A	G	11: 78,403,535		probably benign	Het
Slc7a13	T	C	4: 19,819,070	F90S	probably damaging	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Stard13	A	G	5: 151,062,699	S331P	probably benign	Het
Sult2a8	T	A	7: 14,413,683	I228L	probably benign	Het
Tas2r140	A	T	6: 133,054,952	V281D	probably damaging	Het
Tmem38b	T	C	4: 53,840,710	C66R	probably damaging	Het
Tshz1	C	A	18: 84,016,195	E29D	probably benign	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	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
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
R8350:1700123K08Rik	UTSW	5	138562926	missense	probably benign	0.02
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
Z1176:1700123K08Rik	UTSW	5	138563553	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTTTGCAGGTTCAGACC -3'
(R):5'- AGACACTGAGGAGCATTCTTG -3'

Sequencing Primer
(F):5'- GGTTCAGACCCAGGACCAAC -3'
(R):5'- GCTTACTGATCACTCTTTGGTAATG -3'

Posted On

2015-06-12