Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:2310061I04Rik'

16294

Institutional Source

Beutler Lab

Gene Symbol

2310061I04Rik

Ensembl Gene

ENSMUSG00000050705

Gene Name

RIKEN cDNA 2310061I04 gene

Synonyms

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36203569-36208270 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 36207309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000056034] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000148721] [ENSMUST00000156817] [ENSMUST00000146451] [ENSMUST00000148482] [ENSMUST00000150056] [ENSMUST00000149277] [ENSMUST00000141662] [ENSMUST00000174366]

AlphaFold

B8JJ69

Predicted Effect

probably benign
Transcript: ENSMUST00000025292

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	55	310	6e-57	BLAST
DEXDc	400	585	7.26e-33	SMART
HELICc	636	733	1.7e-15	SMART
HA2	794	885	2.24e-31	SMART
Pfam:OB_NTP_bind	901	1018	3.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056034

SMART Domains

Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	1.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000059740

SMART Domains

Protein: ENSMUSP00000050693
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
Pfam:DUF2358	75	200	5.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061052

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	74	191	1.5e-53	PFAM
Pfam:Acetyltransf_1	88	157	6.8e-5	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077494

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126744

SMART Domains

Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
Pfam:Mec-17	1	83	2.7e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140292

SMART Domains

Protein: ENSMUSP00000119039
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
PDB:4GS4\|A	2	36	9e-13	PDB
low complexity region	50	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148721

SMART Domains

Protein: ENSMUSP00000116278
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	28	79	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF2358	149	274	1.4e-36	PFAM
low complexity region	289	302	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151274

Predicted Effect

probably benign
Transcript: ENSMUST00000156817

SMART Domains

Protein: ENSMUSP00000114851
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	16	60	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146451

SMART Domains

Protein: ENSMUSP00000115771
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	191	1.5e-35	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148482

SMART Domains

Protein: ENSMUSP00000114151
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	191	1.5e-35	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150056

SMART Domains

Protein: ENSMUSP00000121142
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	130	5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149277

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173967

SMART Domains

Protein: ENSMUSP00000133818
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	2	83	5e-35	BLAST
PDB:3I4U\|A	4	83	6e-14	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000154670

SMART Domains

Protein: ENSMUSP00000123547
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
Pfam:DUF2358	2	97	7.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141662

SMART Domains

Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	1.7e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174366

SMART Domains

Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	55	310	9e-58	BLAST
DEXDc	400	585	7.26e-33	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Adcy4	T	C	14: 56,007,284 (GRCm39)	N976S	possibly damaging	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Ambra1	T	A	2: 91,598,056 (GRCm39)	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,662,560 (GRCm39)	H391R	probably benign	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,416,914 (GRCm39)	P251S	probably benign	Het
Cdhr5	C	A	7: 140,849,781 (GRCm39)	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,752,531 (GRCm39)	T157A	probably benign	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Cntn4	A	G	6: 106,595,385 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fat2	T	C	11: 55,189,431 (GRCm39)	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,863,989 (GRCm39)	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,275,919 (GRCm39)	G73E	probably benign	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Nxn	A	T	11: 76,169,420 (GRCm39)		probably benign	Het
Or5b107	T	A	19: 13,143,026 (GRCm39)	I216K	probably benign	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,639,441 (GRCm39)	S416P	unknown	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Smg1	A	T	7: 117,744,690 (GRCm39)	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,175,418 (GRCm39)	L996P	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tie1	T	C	4: 118,343,784 (GRCm39)	S53G	probably benign	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,191,124 (GRCm39)	H222L	probably benign	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,768,290 (GRCm39)	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	Het

Other mutations in 2310061I04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0432:2310061I04Rik	UTSW	17	36,206,708 (GRCm39)	missense	probably damaging	1.00
R0587:2310061I04Rik	UTSW	17	36,203,855 (GRCm39)	makesense	probably null
R1807:2310061I04Rik	UTSW	17	36,205,961 (GRCm39)	nonsense	probably null
R4675:2310061I04Rik	UTSW	17	36,203,820 (GRCm39)	missense	probably damaging	1.00
R7601:2310061I04Rik	UTSW	17	36,206,741 (GRCm39)	missense	probably damaging	0.98
R9117:2310061I04Rik	UTSW	17	36,203,963 (GRCm39)	missense	probably benign	0.32
R9119:2310061I04Rik	UTSW	17	36,203,963 (GRCm39)	missense	probably benign	0.32
R9122:2310061I04Rik	UTSW	17	36,203,963 (GRCm39)	missense	probably benign	0.32

Posted On

2013-01-20