Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:2010315B03Rik'

31421

Institutional Source

Beutler Lab

Gene Symbol

2010315B03Rik

Ensembl Gene

ENSMUSG00000074829

Gene Name

RIKEN cDNA 2010315B03 gene

Synonyms

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0388 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

124291804-124312696 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 124295159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071300] [ENSMUST00000177714] [ENSMUST00000185949] [ENSMUST00000189915]

AlphaFold

J3QK55

Predicted Effect

probably benign
Transcript: ENSMUST00000071300

SMART Domains

Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829

Domain	Start	End	E-Value	Type
KRAB	24	86	5.28e-14	SMART
ZnF_C2H2	95	117	5.9e-3	SMART
ZnF_C2H2	123	145	1.26e-2	SMART
ZnF_C2H2	151	173	2.95e-3	SMART
ZnF_C2H2	179	201	4.24e-4	SMART
ZnF_C2H2	207	229	1.38e-3	SMART
ZnF_C2H2	235	257	3.21e-4	SMART
ZnF_C2H2	263	285	1.26e-2	SMART
ZnF_C2H2	291	312	6.08e0	SMART
ZnF_C2H2	318	340	8.6e-5	SMART
ZnF_C2H2	346	368	1.36e-2	SMART
ZnF_C2H2	374	396	8.02e-5	SMART
ZnF_C2H2	402	424	9.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177714

SMART Domains

Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829

Domain	Start	End	E-Value	Type
KRAB	28	90	5.28e-14	SMART
ZnF_C2H2	99	121	5.9e-3	SMART
ZnF_C2H2	127	149	1.26e-2	SMART
ZnF_C2H2	155	177	2.95e-3	SMART
ZnF_C2H2	183	205	4.24e-4	SMART
ZnF_C2H2	211	233	1.38e-3	SMART
ZnF_C2H2	239	261	3.21e-4	SMART
ZnF_C2H2	267	289	1.26e-2	SMART
ZnF_C2H2	295	316	6.08e0	SMART
ZnF_C2H2	322	344	8.6e-5	SMART
ZnF_C2H2	350	372	1.36e-2	SMART
ZnF_C2H2	378	400	8.02e-5	SMART
ZnF_C2H2	406	428	9.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185949

SMART Domains

Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829

Domain	Start	End	E-Value	Type
KRAB	29	91	2.3e-16	SMART
ZnF_C2H2	100	122	2.5e-5	SMART
ZnF_C2H2	128	150	5.3e-5	SMART
ZnF_C2H2	156	175	5.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189915

SMART Domains

Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829

Domain	Start	End	E-Value	Type
KRAB	1	63	2.3e-16	SMART
ZnF_C2H2	72	94	2.5e-5	SMART
ZnF_C2H2	100	122	5.3e-5	SMART
ZnF_C2H2	128	150	1.2e-5	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	T	C	9: 54,609,063	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242		probably benign	Het
Aox2	T	C	1: 58,354,406	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673		noncoding transcript	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049		probably benign	Het
Dmpk	T	A	7: 19,084,077		probably benign	Het
Dzank1	A	T	2: 144,476,106	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351	R471P	possibly damaging	Het
Esf1	T	A	2: 140,120,871	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,439,630	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757		probably benign	Het
Hspg2	T	A	4: 137,511,158	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187		probably null	Het
Inpp4a	A	G	1: 37,396,160	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504		probably benign	Het
Mmp19	G	T	10: 128,798,883	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917		probably benign	Het
Neurl4	T	C	11: 69,911,733		probably benign	Het
Ntng2	G	C	2: 29,207,426	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184		probably null	Het
Osbpl8	A	G	10: 111,272,282	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706		probably benign	Het
Parn	T	C	16: 13,654,476	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sass6	C	A	3: 116,607,308		probably benign	Het
Shroom3	G	A	5: 92,951,293	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563		probably null	Het
Syne2	T	A	12: 75,986,975	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425		probably null	Het
Tlr6	G	T	5: 64,955,205	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111		probably null	Het
Tns3	T	C	11: 8,445,703	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915		probably benign	Het
Zfp933	T	C	4: 147,826,442	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585	S382P	probably damaging	Het

Other mutations in 2010315B03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:2010315B03Rik	APN	9	124295490	splice site	probably benign
P4748:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0090:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0122:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0140:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0775:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R0798:2010315B03Rik	UTSW	9	124295159	critical splice acceptor site	probably benign
R1467:2010315B03Rik	UTSW	9	124295463	missense	possibly damaging	0.91
R1569:2010315B03Rik	UTSW	9	124293797	nonsense	probably null
R2566:2010315B03Rik	UTSW	9	124293071	missense	probably damaging	0.97
R2566:2010315B03Rik	UTSW	9	124293153	missense	probably damaging	0.99
R3853:2010315B03Rik	UTSW	9	124293346	missense	probably damaging	1.00
R4092:2010315B03Rik	UTSW	9	124293273	missense	probably benign	0.03
R4109:2010315B03Rik	UTSW	9	124295103	missense	probably benign	0.01
R4646:2010315B03Rik	UTSW	9	124293598	missense	probably benign	0.00
R4648:2010315B03Rik	UTSW	9	124293598	missense	probably benign	0.00
R4705:2010315B03Rik	UTSW	9	124294001	missense	possibly damaging	0.86
R4764:2010315B03Rik	UTSW	9	124293766	missense	probably benign	0.01
R5110:2010315B03Rik	UTSW	9	124295357	critical splice donor site	probably null
R5117:2010315B03Rik	UTSW	9	124293085	missense	probably benign	0.00
R5162:2010315B03Rik	UTSW	9	124293671	missense	probably benign	0.08
R5226:2010315B03Rik	UTSW	9	124294076	missense	possibly damaging	0.91
R5426:2010315B03Rik	UTSW	9	124294003	missense	probably damaging	1.00
R6793:2010315B03Rik	UTSW	9	124295422	missense	possibly damaging	0.85
R6975:2010315B03Rik	UTSW	9	124294057	missense	probably benign	0.02
R7213:2010315B03Rik	UTSW	9	124293900	nonsense	probably null
R8011:2010315B03Rik	UTSW	9	124293899	missense
R8086:2010315B03Rik	UTSW	9	124293178	missense
R8117:2010315B03Rik	UTSW	9	124295448	missense
R8363:2010315B03Rik	UTSW	9	124293170	missense
R8941:2010315B03Rik	UTSW	9	124294049	missense	probably benign	0.05
R9523:2010315B03Rik	UTSW	9	124294022	missense

Predicted Primers

Posted On

2013-04-24