Mutagenetix > Incidental Mutations

Incidental Mutation 'R5426:2010315B03Rik'

426894

Institutional Source

Beutler Lab

Gene Symbol

2010315B03Rik

Ensembl Gene

ENSMUSG00000074829

Gene Name

RIKEN cDNA 2010315B03 gene

Synonyms

MMRRC Submission

042992-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124291804-124312696 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124294003 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 122 (H122L)

Ref Sequence

ENSEMBL: ENSMUSP00000140144 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071300
AA Change: H118L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071269
Gene: ENSMUSG00000074829
AA Change: H118L

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

unknown
Transcript: ENSMUST00000177714
AA Change: H97L

SMART Domains

Protein: ENSMUSP00000137258
Gene: ENSMUSG00000074829
AA Change: H97L

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 damaging
Transcript: ENSMUST00000185949
AA Change: H122L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140144
Gene: ENSMUSG00000074829
AA Change: H122L

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

unknown
Transcript: ENSMUST00000189915
AA Change: H94L

SMART Domains

Protein: ENSMUSP00000140738
Gene: ENSMUSG00000074829
AA Change: H94L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	G	A	15: 40,148,536	M90I	unknown	Het
9330182O14Rik	G	A	15: 40,148,537	D91N	unknown	Het
Abca13	T	A	11: 9,290,722	S862T	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgb	C	A	10: 10,350,260	A1405S	probably benign	Het
Adpgk	T	A	9: 59,297,549	V86E	probably damaging	Het
Agfg2	G	C	5: 137,667,758	P80A	probably damaging	Het
Akap11	G	A	14: 78,498,864	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,559,299	R62Q	probably benign	Het
Als2cr12	T	A	1: 58,666,886	K275*	probably null	Het
Amd1	G	T	10: 40,290,187	D265E	probably damaging	Het
Aox4	A	T	1: 58,220,094	Q106L	probably damaging	Het
Arap2	A	T	5: 62,642,816	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,986,584	S874G	probably damaging	Het
BC067074	G	A	13: 113,369,053	V2239I	probably benign	Het
C87499	T	A	4: 88,629,410		probably benign	Het
Ccdc166	T	C	15: 75,982,096	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdk14	A	G	5: 4,888,975	S388P	possibly damaging	Het
Chgb	A	T	2: 132,793,533	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,898,875	W109R	probably damaging	Het
Cyp2b9	T	C	7: 26,187,655	V163A	probably benign	Het
Dcpp2	T	A	17: 23,899,313	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,806,466	E315V	possibly damaging	Het
Defb29	C	A	2: 152,538,948	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,242,206	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,745,745	I854F	probably damaging	Het
Dsg4	T	C	18: 20,458,484	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,690,670	A23T	unknown	Het
Gemin5	A	G	11: 58,125,287	S1297P	probably benign	Het
Gm10309	A	C	17: 86,498,733		probably benign	Het
Gm884	A	T	11: 103,620,760	H127Q	unknown	Het
Gpatch11	T	A	17: 78,841,234	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,732,368	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 78,773,713	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,336,544	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,709,619	I123F	probably damaging	Het
Kalrn	A	T	16: 34,262,653	V644D	probably damaging	Het
Kifap3	A	G	1: 163,779,871	M1V	probably null	Het
Klhl11	A	G	11: 100,464,116	L293P	probably damaging	Het
Klrc3	G	A	6: 129,641,550	S98L	probably benign	Het
Med12l	G	A	3: 59,248,722	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,325,802		probably null	Het
Mybpc2	A	G	7: 44,509,829	V599A	probably benign	Het
Naalad2	T	C	9: 18,347,519	N487D	probably benign	Het
Nat8f7	T	G	6: 85,707,823	S12R	probably benign	Het
Nefm	T	A	14: 68,120,066		probably benign	Het
Nlrp5	T	C	7: 23,418,201	V450A	probably damaging	Het
Nps	G	A	7: 135,268,647		probably null	Het
Olfr1247	T	C	2: 89,609,739	Y121C	probably damaging	Het
Olfr142	T	A	2: 90,252,611	K126*	probably null	Het
Olfr159	A	G	4: 43,770,168	I281T	probably benign	Het
Olfr192	G	T	16: 59,098,302	P230Q	possibly damaging	Het
Olfr492	T	C	7: 108,322,810	N289D	probably damaging	Het
Olfr513	T	C	7: 108,755,717	L287P	possibly damaging	Het
Olfr698	C	A	7: 106,752,566	S274I	probably benign	Het
Oxct2a	C	A	4: 123,322,713	G292W	possibly damaging	Het
Prr27	T	C	5: 87,850,885		probably benign	Het
Ptx3	T	C	3: 66,220,722	M68T	probably damaging	Het
Rufy1	A	G	11: 50,421,734	L131S	probably damaging	Het
Sept7	T	A	9: 25,286,690	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,341,797	I143V	probably benign	Het
Slc25a34	A	G	4: 141,623,566	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,563,154	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,003,236		probably null	Het
Slco4a1	C	A	2: 180,471,235	A420D	possibly damaging	Het
Smap1	T	C	1: 23,849,390	T180A	probably benign	Het
Specc1l	T	C	10: 75,267,550	S920P	probably benign	Het
Tgtp2	A	G	11: 49,059,256	M163T	probably benign	Het
Tiam1	G	T	16: 89,865,392	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,464,823	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,115,671	Y512C	probably damaging	Het
Wdfy3	T	A	5: 101,919,446	N1207Y	probably damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Wdr70	A	G	15: 7,922,105	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,450,896	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,257,192	C391*	probably null	Het
Zfp638	A	G	6: 83,976,414	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,019,595	D192V	probably benign	Het
Zfp853	T	G	5: 143,288,869	Q332P	unknown	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
R0388:2010315B03Rik	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGACGTGAATAGGCTTTACCA -3'
(R):5'- ACAGGTATTGTCAAAGATGCCTAAGA -3'

Sequencing Primer
(F):5'- CGTGAATAGGCTTTACCACATTGGC -3'
(R):5'- GTGATACAATCCTAGAATCTGATTCC -3'

Posted On

2016-09-01