Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:E130308A19Rik'

571785

Institutional Source

Beutler Lab

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59626211-59761439 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59752770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 628 (C628R)

Ref Sequence

ENSEMBL: ENSMUSP00000065702 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070150
AA Change: C628R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071
AA Change: C628R

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

Meta Mutation Damage Score

0.8258

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,208,118		probably null	Het
1700030K09Rik	C	T	8: 72,449,459	P244S	possibly damaging	Het
4930404N11Rik	T	C	10: 81,364,191	D165G	possibly damaging	Het
4930562C15Rik	A	G	16: 4,835,769	I61V	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Acbd3	A	G	1: 180,734,499	E181G	probably benign	Het
Ano3	T	C	2: 110,757,067	Y43C	probably damaging	Het
Aspa	T	A	11: 73,319,890		probably null	Het
AU018091	A	T	7: 3,156,330	N620K	probably damaging	Het
Bicc1	G	T	10: 70,943,386	T724K	probably benign	Het
Bmper	T	C	9: 23,484,004	I677T	probably damaging	Het
C3	T	A	17: 57,221,162	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,729,990	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,300,382	E462*	probably null	Het
Ccdc88c	C	A	12: 100,944,950	R875L	possibly damaging	Het
Cd177	C	T	7: 24,756,722	G207D	probably damaging	Het
Cdh23	A	T	10: 60,315,692	Y2471*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cmbl	A	T	15: 31,589,856	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919	V448A	probably damaging	Het
Ddr2	A	G	1: 169,997,964	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,523,212	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,917,906	I481L	probably benign	Het
Dlst	A	T	12: 85,128,315	I260L	probably benign	Het
Dnajc13	T	G	9: 104,184,706	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,354,599	Y520C	probably damaging	Het
Dr1	C	A	5: 108,275,728	A127E	unknown	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Edem3	T	A	1: 151,812,614		probably null	Het
Fam20a	T	A	11: 109,673,342	Q528H	possibly damaging	Het
Fanca	T	C	8: 123,281,213	E981G	probably benign	Het
Fbp2	A	G	13: 62,837,198	V303A	possibly damaging	Het
Flii	C	T	11: 60,721,119	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,785,758	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525	H72L	probably benign	Het
Gm5114	T	G	7: 39,409,344	T284P	possibly damaging	Het
Gm7168	T	C	17: 13,949,885	S505P	probably damaging	Het
Gnal	T	C	18: 67,211,071	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,265,749	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Il3	T	A	11: 54,265,883	R93S	probably benign	Het
Itsn1	A	G	16: 91,908,450	E1573G	unknown	Het
Kif26a	G	A	12: 112,163,542		probably null	Het
Klb	T	C	5: 65,372,431	M434T	probably damaging	Het
Lrp2	T	A	2: 69,483,806	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mak16	A	G	8: 31,166,099	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,817,455	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,274,568	I1186V	probably benign	Het
Mboat1	T	A	13: 30,202,362	C120S	possibly damaging	Het
Mctp2	T	A	7: 72,259,214	D117V	probably benign	Het
Mocos	C	A	18: 24,676,616	N425K	probably damaging	Het
Nav2	A	G	7: 49,554,203		probably null	Het
Ngfr	A	T	11: 95,574,429	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,502,964	S596G	probably damaging	Het
Olfr111	T	A	17: 37,530,817	V280D	probably damaging	Het
Olfr1414	A	G	1: 92,511,678	S117P	possibly damaging	Het
Olfr578	A	T	7: 102,984,516	I216K	probably damaging	Het
Olfr594	T	G	7: 103,220,533	Y272D	probably benign	Het
Olfr705	G	T	7: 106,873,396	P283Q	probably damaging	Het
Pithd1	T	C	4: 135,987,050	Y29C	probably benign	Het
Plcb3	T	C	19: 6,962,021	T530A	probably benign	Het
Prss40	A	T	1: 34,559,871	Y70*	probably null	Het
Ralgps1	T	C	2: 33,324,688	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,124,962	R36H	possibly damaging	Het
Rnf125	A	G	18: 20,974,433	N7S	not run	Het
Rpe65	G	A	3: 159,624,729	S511N	probably benign	Het
Rspo4	A	T	2: 151,867,873	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,422,149	S437P	probably benign	Het
Sele	C	A	1: 164,048,719	R12S	probably benign	Het
Sgo2b	T	A	8: 63,938,417	K139*	probably null	Het
Shroom3	C	A	5: 92,964,606	S1942*	probably null	Het
Slc12a9	G	A	5: 137,328,623	R191*	probably null	Het
Spag9	G	T	11: 94,108,521	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,604,194	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,314,049		probably null	Het
Sult2a8	A	T	7: 14,416,329		probably null	Het
Synpo2	A	G	3: 123,114,041	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,915,480		probably null	Het
Tenm2	T	C	11: 36,069,414	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,171,897	N62K	probably damaging	Het
Tollip	A	G	7: 141,889,597	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,471,107	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,374,513	S58P	probably benign	Het
Ttc9b	T	C	7: 27,654,959	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,222,912	Y185C	probably damaging	Het
Ubr2	C	T	17: 46,955,845	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Yipf3	T	A	17: 46,248,929	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,590,181	C19G	probably damaging	Het
Zfp735	A	T	11: 73,712,153	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,232,227	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,273,373		probably null	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
R1490:E130308A19Rik	UTSW	4	59719746	missense	probably damaging	0.99
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
R7916:E130308A19Rik	UTSW	4	59719841	missense	probably damaging	1.00
R8050:E130308A19Rik	UTSW	4	59719767	missense	probably damaging	1.00
R8445:E130308A19Rik	UTSW	4	59720526	missense	probably damaging	0.99
R8795:E130308A19Rik	UTSW	4	59737676	missense	possibly damaging	0.93
R9088:E130308A19Rik	UTSW	4	59737594	missense	probably benign	0.16
R9663:E130308A19Rik	UTSW	4	59719764	missense	possibly damaging	0.87
Z1176:E130308A19Rik	UTSW	4	59720313	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59720223	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGTCCACAGTGGTCAAGTAC -3'
(R):5'- CCTTCCTGGCTAAATTTGGGAC -3'

Sequencing Primer
(F):5'- GCCAGTATCTGAATATGCGGACTC -3'
(R):5'- GGACAATTCCCCGGAGAGAC -3'

Posted On

2019-09-13