Mutagenetix > Incidental Mutations

Incidental Mutation 'R1490:E130308A19Rik'

163640

Institutional Source

Beutler Lab

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

MMRRC Submission

039542-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59626211-59761439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59719746 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 426 (Y426C)

Ref Sequence

ENSEMBL: ENSMUSP00000062493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052420] [ENSMUST00000070150]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052420
AA Change: Y426C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: Y426C

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:DUF3504	520	673	2.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070150

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
Pfam:DUF3504	532	687	4.5e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152797

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Aldh1l2	G	A	10: 83,520,370	T52I	probably damaging	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cacul1	G	T	19: 60,580,399	A107E	probably damaging	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Eps8l1	A	G	7: 4,470,889	R232G	probably damaging	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr392	A	G	11: 73,814,371	V237A	possibly damaging	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr11	A	C	14: 50,363,176	H873P	probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp458	G	A	13: 67,257,509	P286S	probably damaging	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	probably benign	Het

Other mutations in E130308A19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:E130308A19Rik	APN	4	59737743	splice site	probably benign
IGL00672:E130308A19Rik	APN	4	59719697	missense	probably benign	0.00
IGL00937:E130308A19Rik	APN	4	59690846	missense	probably benign	0.01
IGL01885:E130308A19Rik	APN	4	59720004	missense	probably benign	0.20
IGL02638:E130308A19Rik	APN	4	59719676	nonsense	probably null
H8562:E130308A19Rik	UTSW	4	59691033	missense	possibly damaging	0.70
R0044:E130308A19Rik	UTSW	4	59690290	missense	possibly damaging	0.86
R0523:E130308A19Rik	UTSW	4	59719716	missense	probably damaging	0.98
R0788:E130308A19Rik	UTSW	4	59719847	missense	possibly damaging	0.76
R1215:E130308A19Rik	UTSW	4	59690743	missense	probably benign	0.37
R2292:E130308A19Rik	UTSW	4	59690579	missense	probably damaging	0.99
R3907:E130308A19Rik	UTSW	4	59752393	missense	probably benign	0.14
R4288:E130308A19Rik	UTSW	4	59690308	missense	probably benign	0.33
R4780:E130308A19Rik	UTSW	4	59691057	missense	probably benign	0.01
R4781:E130308A19Rik	UTSW	4	59691057	missense	probably benign	0.01
R4834:E130308A19Rik	UTSW	4	59690317	nonsense	probably null
R4985:E130308A19Rik	UTSW	4	59691017	missense	probably benign	0.01
R6123:E130308A19Rik	UTSW	4	59737565	missense	probably damaging	1.00
R6290:E130308A19Rik	UTSW	4	59691332	missense	probably benign	0.25
R6315:E130308A19Rik	UTSW	4	59691132	missense	probably benign
R6643:E130308A19Rik	UTSW	4	59720561	missense	possibly damaging	0.90
R6763:E130308A19Rik	UTSW	4	59752288	missense	probably damaging	0.99
R6980:E130308A19Rik	UTSW	4	59719991	missense	probably damaging	0.97
R7036:E130308A19Rik	UTSW	4	59719991	missense	probably damaging	0.97
R7078:E130308A19Rik	UTSW	4	59737688	missense	probably damaging	1.00
R7098:E130308A19Rik	UTSW	4	59753004	missense	possibly damaging	0.88
R7171:E130308A19Rik	UTSW	4	59690333	missense	probably damaging	1.00
R7247:E130308A19Rik	UTSW	4	59690502	missense	probably damaging	1.00
R7366:E130308A19Rik	UTSW	4	59752770	missense	probably damaging	0.99
R8050:E130308A19Rik	UTSW	4	59719767	missense	probably damaging	1.00
Z1176:E130308A19Rik	UTSW	4	59720313	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59720223	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGTAGTGCGATAACCACAGCCC -3'
(R):5'- GGAACGCTTGAACTCCTTATCCCTG -3'

Sequencing Primer
(F):5'- ACTTTATTTCAGAGTAGCAAGTGC -3'
(R):5'- GAACTCCTTATCCCTGGTGATG -3'

Posted On

2014-03-28