Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:2010315B03Rik'

500098

Institutional Source

Beutler Lab

Gene Symbol

2010315B03Rik

Ensembl Gene

ENSMUSG00000074829

Gene Name

RIKEN cDNA 2010315B03 gene

Synonyms

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0164 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

124054434-124075326 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 124057789 bp (GRCm39)

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atl2	A	G	17: 80,161,260 (GRCm39)		probably benign	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,175,900 (GRCm39)		probably benign	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
BC028528	A	T	3: 95,794,646 (GRCm39)		probably benign	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,165,518 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gli2	A	G	1: 118,818,013 (GRCm39)		probably benign	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,755,646 (GRCm39)		probably benign	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Ipo11	A	G	13: 107,046,702 (GRCm39)		probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mmrn1	T	A	6: 60,952,799 (GRCm39)		probably benign	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
N4bp2	T	C	5: 65,960,916 (GRCm39)		probably benign	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Rnf157	A	G	11: 116,245,636 (GRCm39)		probably benign	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Skint6	A	T	4: 112,848,433 (GRCm39)		probably benign	Het
Slfn10-ps	T	C	11: 82,926,128 (GRCm39)		noncoding transcript	Het
Sspo	T	A	6: 48,471,128 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,141,634 (GRCm39)		probably benign	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tenm4	T	G	7: 96,378,547 (GRCm39)		probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ubac2	A	G	14: 122,246,329 (GRCm39)		probably benign	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,066,992 (GRCm39)	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,035,189 (GRCm39)	C176S	probably damaging	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,528,800 (GRCm39)		probably null	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Wdr43	T	G	17: 71,938,992 (GRCm39)		probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	Het

Other mutations in 2010315B03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01872:2010315B03Rik	APN	9	124,058,120 (GRCm39)	splice site	probably benign
P4748:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0090:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0122:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0140:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0164:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0388:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0775:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R0798:2010315B03Rik	UTSW	9	124,057,789 (GRCm39)	critical splice acceptor site	probably benign
R1467:2010315B03Rik	UTSW	9	124,058,093 (GRCm39)	missense	possibly damaging	0.91
R1569:2010315B03Rik	UTSW	9	124,056,427 (GRCm39)	nonsense	probably null
R2566:2010315B03Rik	UTSW	9	124,055,783 (GRCm39)	missense	probably damaging	0.99
R2566:2010315B03Rik	UTSW	9	124,055,701 (GRCm39)	missense	probably damaging	0.97
R3853:2010315B03Rik	UTSW	9	124,055,976 (GRCm39)	missense	probably damaging	1.00
R4092:2010315B03Rik	UTSW	9	124,055,903 (GRCm39)	missense	probably benign	0.03
R4109:2010315B03Rik	UTSW	9	124,057,733 (GRCm39)	missense	probably benign	0.01
R4646:2010315B03Rik	UTSW	9	124,056,228 (GRCm39)	missense	probably benign	0.00
R4648:2010315B03Rik	UTSW	9	124,056,228 (GRCm39)	missense	probably benign	0.00
R4705:2010315B03Rik	UTSW	9	124,056,631 (GRCm39)	missense	possibly damaging	0.86
R4764:2010315B03Rik	UTSW	9	124,056,396 (GRCm39)	missense	probably benign	0.01
R5110:2010315B03Rik	UTSW	9	124,057,987 (GRCm39)	critical splice donor site	probably null
R5117:2010315B03Rik	UTSW	9	124,055,715 (GRCm39)	missense	probably benign	0.00
R5162:2010315B03Rik	UTSW	9	124,056,301 (GRCm39)	missense	probably benign	0.08
R5226:2010315B03Rik	UTSW	9	124,056,706 (GRCm39)	missense	possibly damaging	0.91
R5426:2010315B03Rik	UTSW	9	124,056,633 (GRCm39)	missense	probably damaging	1.00
R6793:2010315B03Rik	UTSW	9	124,058,052 (GRCm39)	missense	possibly damaging	0.85
R6975:2010315B03Rik	UTSW	9	124,056,687 (GRCm39)	missense	probably benign	0.02
R7213:2010315B03Rik	UTSW	9	124,056,530 (GRCm39)	nonsense	probably null
R8011:2010315B03Rik	UTSW	9	124,056,529 (GRCm39)	missense
R8086:2010315B03Rik	UTSW	9	124,055,808 (GRCm39)	missense
R8117:2010315B03Rik	UTSW	9	124,058,078 (GRCm39)	missense
R8363:2010315B03Rik	UTSW	9	124,055,800 (GRCm39)	missense
R8941:2010315B03Rik	UTSW	9	124,056,679 (GRCm39)	missense	probably benign	0.05
R9523:2010315B03Rik	UTSW	9	124,056,652 (GRCm39)	missense

Predicted Primers

Posted On

2017-12-01