Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:E130309D02Rik'

462796

Institutional Source

Beutler Lab

Gene Symbol

E130309D02Rik

Ensembl Gene

ENSMUSG00000039244

Gene Name

RIKEN cDNA E130309D02 gene

Synonyms

MMRRC Submission

042756-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5176 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

143301195-143315360 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 143315075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 7 (S7*)

Ref Sequence

ENSEMBL: ENSMUSP00000041800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001900] [ENSMUST00000046418] [ENSMUST00000159813] [ENSMUST00000161915]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001900

SMART Domains

Protein: ENSMUSP00000001900
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
Pfam:zf-DHHC	112	294	5e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000046418
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: S7*

Domain	Start	End	E-Value	Type
Pfam:DUF4507	2	380	4.8e-128	PFAM
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159406

Predicted Effect

probably benign
Transcript: ENSMUST00000159813

SMART Domains

Protein: ENSMUSP00000137935
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	97	110	N/A	INTRINSIC
Pfam:zf-DHHC	112	175	3.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160498

Predicted Effect

probably benign
Transcript: ENSMUST00000161915

SMART Domains

Protein: ENSMUSP00000124813
Gene: ENSMUSG00000001844

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
transmembrane domain	100	122	N/A	INTRINSIC
Pfam:zf-DHHC	144	294	9.7e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200220

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abca7	C	A	10: 79,998,289	H116Q	probably benign	Het
Akap12	G	T	10: 4,353,947	E252D	probably benign	Het
Apobr	A	G	7: 126,585,016	D2G	probably damaging	Het
Arhgef12	A	T	9: 43,020,686	H168Q	probably damaging	Het
Asb3	T	A	11: 31,081,357		probably null	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,635,131	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 55,060,470	A42T	probably benign	Het
Cds1	G	T	5: 101,781,420	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,637,026	D989E	probably benign	Het
Cpsf6	C	A	10: 117,361,284		probably benign	Het
Ctif	C	T	18: 75,637,219	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dao	T	C	5: 114,020,009		probably null	Het
Dopey1	T	A	9: 86,521,815	N1689K	probably damaging	Het
Dopey2	A	G	16: 93,740,043	Y14C	probably damaging	Het
Fam160b1	A	G	19: 57,371,181	N51S	probably damaging	Het
Fam187a	C	T	11: 102,886,464	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,731,439		probably benign	Het
Fkbp15	G	T	4: 62,312,323	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208	V118F	probably damaging	Het
Gm11492	T	A	11: 87,567,532	M244K	probably benign	Het
Gm13991	T	A	2: 116,528,027		noncoding transcript	Het
H2-M9	T	C	17: 36,641,631	I174M	probably damaging	Het
Insr	T	A	8: 3,158,742	M1240L	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,152,812	E95D	probably benign	Het
March9	T	C	10: 127,059,450	D102G	probably benign	Het
Muc19	A	G	15: 91,892,180		noncoding transcript	Het
Nr1h4	T	A	10: 89,498,255	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,948,802	M1K	probably null	Het
Olfr561	T	A	7: 102,775,306	S261T	probably damaging	Het
Olfr836	A	T	9: 19,121,360	Y132F	probably damaging	Het
Olfr998	A	C	2: 85,591,435	K298N	possibly damaging	Het
Oprd1	T	C	4: 132,113,793	T285A	probably benign	Het
Optc	T	C	1: 133,902,084	N196S	probably benign	Het
Panx2	G	T	15: 89,060,228	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,344,957	F211L	probably damaging	Het
Pot1b	T	A	17: 55,699,995	T41S	probably benign	Het
Prss56	T	C	1: 87,184,158	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,156,415	T870A	probably damaging	Het
Rabep2	C	A	7: 126,434,293		probably benign	Het
Rbm48	A	C	5: 3,595,444	V80G	probably damaging	Het
Rhou	G	T	8: 123,654,109	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,602,042	D45G	probably benign	Het
Rusc1	A	G	3: 89,089,082	S109P	probably damaging	Het
Ryr3	T	C	2: 112,757,667	D2643G	possibly damaging	Het
Sik2	T	C	9: 50,899,403	E471G	probably benign	Het
Sipa1	A	G	19: 5,659,378	S310P	probably damaging	Het
Spen	T	C	4: 141,476,276	E1680G	unknown	Het
Steap3	C	T	1: 120,243,767		probably null	Het
Tmeff2	T	A	1: 51,071,541	C171*	probably null	Het
Tmem138	A	T	19: 10,575,270	M33K	probably benign	Het
Trappc11	C	A	8: 47,510,963	V601L	possibly damaging	Het
Ttc30a2	T	C	2: 75,977,077	M364V	probably benign	Het
Ttll4	C	A	1: 74,679,286	H99N	probably damaging	Het
Uchl4	A	T	9: 64,235,740	K168*	probably null	Het
Wdr17	C	T	8: 54,653,878		probably null	Het
Xpo1	A	G	11: 23,295,977	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,591,125	K712N	probably damaging	Het

Other mutations in E130309D02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:E130309D02Rik	APN	5	143307982	missense	probably damaging	1.00
Nespresso	UTSW	5	143315075	nonsense	probably null
R0012:E130309D02Rik	UTSW	5	143314182	missense	probably damaging	1.00
R0027:E130309D02Rik	UTSW	5	143308062	missense	probably damaging	1.00
R0027:E130309D02Rik	UTSW	5	143308062	missense	probably damaging	1.00
R0310:E130309D02Rik	UTSW	5	143307888	missense	probably benign
R2960:E130309D02Rik	UTSW	5	143308021	missense	probably benign	0.28
R4646:E130309D02Rik	UTSW	5	143307985	missense	probably damaging	1.00
R4797:E130309D02Rik	UTSW	5	143311749	missense	probably benign	0.44
R4898:E130309D02Rik	UTSW	5	143301837	missense	probably benign
R5091:E130309D02Rik	UTSW	5	143307688	missense	possibly damaging	0.64
R5126:E130309D02Rik	UTSW	5	143307946	missense	probably benign
R6297:E130309D02Rik	UTSW	5	143308032	missense	possibly damaging	0.58
R6775:E130309D02Rik	UTSW	5	143311738	missense	probably benign	0.03
R7193:E130309D02Rik	UTSW	5	143307843	missense	probably benign	0.08
R7260:E130309D02Rik	UTSW	5	143311839	missense	probably benign
R7388:E130309D02Rik	UTSW	5	143311845	missense	probably benign	0.15
R8082:E130309D02Rik	UTSW	5	143311852	missense	probably benign	0.27
R8946:E130309D02Rik	UTSW	5	143315040	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ATCATTCATTGGTGGGCGAC -3'
(R):5'- AAACTCTTGCGAAGACGGC -3'

Sequencing Primer
(F):5'- CATTGGTGGGCGACTGTCAC -3'
(R):5'- AGTCGGACCCCAGGATAC -3'

Posted On

2017-03-03