Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.071) 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 (GRCm38)

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]

AlphaFold

J3QK55

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: 40,148,537 (GRCm38)	D91N	unknown	Het
9330182O14Rik	G	A	15: 40,148,536 (GRCm38)	M90I	unknown	Het
Abca13	T	A	11: 9,290,722 (GRCm38)	S862T	probably damaging	Het
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adgb	C	A	10: 10,350,260 (GRCm38)	A1405S	probably benign	Het
Adpgk	T	A	9: 59,297,549 (GRCm38)	V86E	probably damaging	Het
Agfg2	G	C	5: 137,667,758 (GRCm38)	P80A	probably damaging	Het
Akap11	G	A	14: 78,498,864 (GRCm38)	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,559,299 (GRCm38)	R62Q	probably benign	Het
Amd1	G	T	10: 40,290,187 (GRCm38)	D265E	probably damaging	Het
Aox4	A	T	1: 58,220,094 (GRCm38)	Q106L	probably damaging	Het
Arap2	A	T	5: 62,642,816 (GRCm38)	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,986,584 (GRCm38)	S874G	probably damaging	Het
Ccdc166	T	C	15: 75,982,096 (GRCm38)	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,795,897 (GRCm38)	R205H	probably damaging	Het
Cdk14	A	G	5: 4,888,975 (GRCm38)	S388P	possibly damaging	Het
Chgb	A	T	2: 132,793,533 (GRCm38)	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,898,875 (GRCm38)	W109R	probably damaging	Het
Cspg4b	G	A	13: 113,369,053 (GRCm38)	V2239I	probably benign	Het
Cyp2b9	T	C	7: 26,187,655 (GRCm38)	V163A	probably benign	Het
Dcpp2	T	A	17: 23,899,313 (GRCm38)	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,806,466 (GRCm38)	E315V	possibly damaging	Het
Defb29	C	A	2: 152,538,948 (GRCm38)	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,242,206 (GRCm38)	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,745,745 (GRCm38)	I854F	probably damaging	Het
Dsg4	T	C	18: 20,458,484 (GRCm38)	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,690,670 (GRCm38)	A23T	unknown	Het
Flacc1	T	A	1: 58,666,886 (GRCm38)	K275*	probably null	Het
Gemin5	A	G	11: 58,125,287 (GRCm38)	S1297P	probably benign	Het
Gm10309	A	C	17: 86,498,733 (GRCm38)		probably benign	Het
Gpatch11	T	A	17: 78,841,234 (GRCm38)	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,732,368 (GRCm38)	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 78,773,713 (GRCm38)	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,336,544 (GRCm38)	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,709,619 (GRCm38)	I123F	probably damaging	Het
Kalrn	A	T	16: 34,262,653 (GRCm38)	V644D	probably damaging	Het
Kifap3	A	G	1: 163,779,871 (GRCm38)	M1V	probably null	Het
Klhl11	A	G	11: 100,464,116 (GRCm38)	L293P	probably damaging	Het
Klrc3	G	A	6: 129,641,550 (GRCm38)	S98L	probably benign	Het
Lrrc37	A	T	11: 103,620,760 (GRCm38)	H127Q	unknown	Het
Med12l	G	A	3: 59,248,722 (GRCm38)	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,325,802 (GRCm38)		probably null	Het
Mybpc2	A	G	7: 44,509,829 (GRCm38)	V599A	probably benign	Het
Naalad2	T	C	9: 18,347,519 (GRCm38)	N487D	probably benign	Het
Nat8f7	T	G	6: 85,707,823 (GRCm38)	S12R	probably benign	Het
Nefm	T	A	14: 68,120,066 (GRCm38)		probably benign	Het
Nlrp5	T	C	7: 23,418,201 (GRCm38)	V450A	probably damaging	Het
Nps	G	A	7: 135,268,647 (GRCm38)		probably null	Het
Or13c7d	A	G	4: 43,770,168 (GRCm38)	I281T	probably benign	Het
Or2ag16	C	A	7: 106,752,566 (GRCm38)	S274I	probably benign	Het
Or4a74	T	C	2: 89,609,739 (GRCm38)	Y121C	probably damaging	Het
Or4b13	T	A	2: 90,252,611 (GRCm38)	K126*	probably null	Het
Or5e1	T	C	7: 108,755,717 (GRCm38)	L287P	possibly damaging	Het
Or5h24	G	T	16: 59,098,302 (GRCm38)	P230Q	possibly damaging	Het
Or5p67	T	C	7: 108,322,810 (GRCm38)	N289D	probably damaging	Het
Oxct2a	C	A	4: 123,322,713 (GRCm38)	G292W	possibly damaging	Het
Pramel32	T	A	4: 88,629,410 (GRCm38)		probably benign	Het
Prr27	T	C	5: 87,850,885 (GRCm38)		probably benign	Het
Ptx3	T	C	3: 66,220,722 (GRCm38)	M68T	probably damaging	Het
Rufy1	A	G	11: 50,421,734 (GRCm38)	L131S	probably damaging	Het
Septin7	T	A	9: 25,286,690 (GRCm38)	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,341,797 (GRCm38)	I143V	probably benign	Het
Slc25a34	A	G	4: 141,623,566 (GRCm38)	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,563,154 (GRCm38)	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,003,236 (GRCm38)		probably null	Het
Slco4a1	C	A	2: 180,471,235 (GRCm38)	A420D	possibly damaging	Het
Smap1	T	C	1: 23,849,390 (GRCm38)	T180A	probably benign	Het
Specc1l	T	C	10: 75,267,550 (GRCm38)	S920P	probably benign	Het
Tgtp2	A	G	11: 49,059,256 (GRCm38)	M163T	probably benign	Het
Tiam1	G	T	16: 89,865,392 (GRCm38)	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,464,823 (GRCm38)	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,115,671 (GRCm38)	Y512C	probably damaging	Het
Wdfy3	T	A	5: 101,919,446 (GRCm38)	N1207Y	probably damaging	Het
Wdr17	C	T	8: 54,681,399 (GRCm38)	G349R	probably damaging	Het
Wdr70	A	G	15: 7,922,105 (GRCm38)	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,450,896 (GRCm38)	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,257,192 (GRCm38)	C391*	probably null	Het
Zfp638	A	G	6: 83,976,414 (GRCm38)	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,019,595 (GRCm38)	D192V	probably benign	Het
Zfp853	T	G	5: 143,288,869 (GRCm38)	Q332P	unknown	Het

Other mutations in 2010315B03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:2010315B03Rik	APN	9	124,295,490 (GRCm38)	splice site	probably benign
P4748:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0090:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0122:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0140:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0388:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0775:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R0798:2010315B03Rik	UTSW	9	124,295,159 (GRCm38)	critical splice acceptor site	probably benign
R1467:2010315B03Rik	UTSW	9	124,295,463 (GRCm38)	missense	possibly damaging	0.91
R1569:2010315B03Rik	UTSW	9	124,293,797 (GRCm38)	nonsense	probably null
R2566:2010315B03Rik	UTSW	9	124,293,153 (GRCm38)	missense	probably damaging	0.99
R2566:2010315B03Rik	UTSW	9	124,293,071 (GRCm38)	missense	probably damaging	0.97
R3853:2010315B03Rik	UTSW	9	124,293,346 (GRCm38)	missense	probably damaging	1.00
R4092:2010315B03Rik	UTSW	9	124,293,273 (GRCm38)	missense	probably benign	0.03
R4109:2010315B03Rik	UTSW	9	124,295,103 (GRCm38)	missense	probably benign	0.01
R4646:2010315B03Rik	UTSW	9	124,293,598 (GRCm38)	missense	probably benign	0.00
R4648:2010315B03Rik	UTSW	9	124,293,598 (GRCm38)	missense	probably benign	0.00
R4705:2010315B03Rik	UTSW	9	124,294,001 (GRCm38)	missense	possibly damaging	0.86
R4764:2010315B03Rik	UTSW	9	124,293,766 (GRCm38)	missense	probably benign	0.01
R5110:2010315B03Rik	UTSW	9	124,295,357 (GRCm38)	critical splice donor site	probably null
R5117:2010315B03Rik	UTSW	9	124,293,085 (GRCm38)	missense	probably benign	0.00
R5162:2010315B03Rik	UTSW	9	124,293,671 (GRCm38)	missense	probably benign	0.08
R5226:2010315B03Rik	UTSW	9	124,294,076 (GRCm38)	missense	possibly damaging	0.91
R6793:2010315B03Rik	UTSW	9	124,295,422 (GRCm38)	missense	possibly damaging	0.85
R6975:2010315B03Rik	UTSW	9	124,294,057 (GRCm38)	missense	probably benign	0.02
R7213:2010315B03Rik	UTSW	9	124,293,900 (GRCm38)	nonsense	probably null
R8011:2010315B03Rik	UTSW	9	124,293,899 (GRCm38)	missense
R8086:2010315B03Rik	UTSW	9	124,293,178 (GRCm38)	missense
R8117:2010315B03Rik	UTSW	9	124,295,448 (GRCm38)	missense
R8363:2010315B03Rik	UTSW	9	124,293,170 (GRCm38)	missense
R8941:2010315B03Rik	UTSW	9	124,294,049 (GRCm38)	missense	probably benign	0.05
R9523:2010315B03Rik	UTSW	9	124,294,022 (GRCm38)	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