Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02830:Ribc2'

361412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ribc2

Ensembl Gene

ENSMUSG00000022431

Gene Name

RIB43A domain with coiled-coils 2

Synonyms

4930579A10Rik, Trib

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

85016279-85028771 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to A at 85016458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023067] [ENSMUST00000023068] [ENSMUST00000229238]

AlphaFold

Q9D4Q1

Predicted Effect

probably benign
Transcript: ENSMUST00000023067

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431

Domain	Start	End	E-Value	Type
Pfam:RIB43A	3	377	9.7e-147	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023068

SMART Domains

Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432

Domain	Start	End	E-Value	Type
Pfam:AAA_23	7	361	2e-10	PFAM
Pfam:AAA_21	27	372	7.2e-9	PFAM
low complexity region	422	437	N/A	INTRINSIC
SMC_hinge	513	629	1.5e-23	SMART
PDB:1W1W\|D	1046	1218	3e-42	PDB
Blast:AAA	1063	1217	5e-25	BLAST
SCOP:d1e69a_	1114	1202	3e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229238

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,348,235 (GRCm39)	E67D	possibly damaging	Het
Acad11	T	A	9: 103,953,118 (GRCm39)	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298 (GRCm38)	T160I	probably damaging	Het
Anxa7	A	T	14: 20,506,608 (GRCm39)	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,297,711 (GRCm39)	D423G	probably benign	Het
Cela3a	T	C	4: 137,128,946 (GRCm39)	N282S	probably benign	Het
Cyp2c50	G	A	19: 40,086,500 (GRCm39)	V296I	probably benign	Het
Fcgbpl1	C	A	7: 27,862,348 (GRCm39)	H2471Q	probably damaging	Het
Fgd3	A	G	13: 49,418,107 (GRCm39)		probably benign	Het
Gfus	C	T	15: 75,797,437 (GRCm39)	V275I	probably benign	Het
Gimap8	G	A	6: 48,633,239 (GRCm39)	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787 (GRCm39)	M900L	possibly damaging	Het
H1f0	T	G	15: 78,913,511 (GRCm39)		probably benign	Het
Heatr1	T	C	13: 12,441,093 (GRCm39)	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096 (GRCm39)	S157T	possibly damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Klc1	T	C	12: 111,743,341 (GRCm39)	Y223H	probably damaging	Het
Klhl33	C	T	14: 51,129,214 (GRCm39)	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,592,393 (GRCm39)	L34F	probably damaging	Het
Nalcn	C	T	14: 123,530,881 (GRCm39)	V1386I	probably damaging	Het
Or14c39	T	G	7: 86,344,382 (GRCm39)	C239W	probably damaging	Het
Or4b13	A	T	2: 90,083,125 (GRCm39)	I69N	probably damaging	Het
Or51b6	C	T	7: 103,555,651 (GRCm39)	P2S	probably benign	Het
Or5ac19	A	G	16: 59,089,416 (GRCm39)	S205P	possibly damaging	Het
Orc5	A	T	5: 22,734,265 (GRCm39)	L173Q	probably damaging	Het
Otud4	T	G	8: 80,399,930 (GRCm39)	D880E	probably benign	Het
Pde12	T	C	14: 26,389,740 (GRCm39)	Y323C	probably damaging	Het
Pde8b	G	T	13: 95,189,409 (GRCm39)	D198E	probably benign	Het
Prom2	T	A	2: 127,376,989 (GRCm39)	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,283,488 (GRCm39)	T952I	probably benign	Het
Sec31b	C	T	19: 44,520,142 (GRCm39)	R214K	probably damaging	Het
Senp5	G	A	16: 31,802,303 (GRCm39)		probably benign	Het
Sh3pxd2a	G	A	19: 47,271,517 (GRCm39)	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,711,441 (GRCm39)		probably null	Het
Spata31d1c	A	G	13: 65,183,180 (GRCm39)	T241A	probably benign	Het
Tac1	G	A	6: 7,555,650 (GRCm39)	V13I	probably benign	Het
Tnnc2	T	A	2: 164,619,430 (GRCm39)	D138V	probably null	Het
Tspan32	T	A	7: 142,571,329 (GRCm39)	M159K	possibly damaging	Het
Ttc28	A	T	5: 111,434,105 (GRCm39)	T2380S	probably benign	Het
Ubc	T	A	5: 125,464,377 (GRCm39)	I317F	probably damaging	Het
Usp24	T	C	4: 106,204,584 (GRCm39)	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,356,884 (GRCm39)	H850Q	probably benign	Het
Xrn1	T	C	9: 95,900,234 (GRCm39)		probably null	Het
Zfp329	A	C	7: 12,544,043 (GRCm39)	C494G	probably damaging	Het
Zfp54	T	C	17: 21,653,718 (GRCm39)	S71P	probably damaging	Het

Other mutations in Ribc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02028:Ribc2	APN	15	85,027,536 (GRCm39)	missense	possibly damaging	0.95
IGL02816:Ribc2	APN	15	85,017,106 (GRCm39)	missense	probably damaging	0.99
IGL03336:Ribc2	APN	15	85,017,114 (GRCm39)	nonsense	probably null
IGL03350:Ribc2	APN	15	85,019,703 (GRCm39)	missense	probably damaging	1.00
R0583:Ribc2	UTSW	15	85,017,115 (GRCm39)	splice site	probably null
R3685:Ribc2	UTSW	15	85,019,535 (GRCm39)	missense	possibly damaging	0.89
R3943:Ribc2	UTSW	15	85,019,451 (GRCm39)	missense	probably benign	0.00
R3944:Ribc2	UTSW	15	85,019,451 (GRCm39)	missense	probably benign	0.00
R4758:Ribc2	UTSW	15	85,025,867 (GRCm39)	missense	probably damaging	1.00
R7234:Ribc2	UTSW	15	85,019,733 (GRCm39)	missense	probably benign	0.00
R7472:Ribc2	UTSW	15	85,019,446 (GRCm39)	missense	probably benign	0.33
R7567:Ribc2	UTSW	15	85,027,448 (GRCm39)	missense	probably damaging	0.98
R7653:Ribc2	UTSW	15	85,025,876 (GRCm39)	missense	probably benign	0.36
R8370:Ribc2	UTSW	15	85,027,489 (GRCm39)	missense	probably benign	0.00
R8443:Ribc2	UTSW	15	85,019,461 (GRCm39)	missense	probably benign	0.00
R8971:Ribc2	UTSW	15	85,016,337 (GRCm39)	start gained	probably benign
R9072:Ribc2	UTSW	15	85,022,163 (GRCm39)	missense	probably damaging	0.97
R9073:Ribc2	UTSW	15	85,022,163 (GRCm39)	missense	probably damaging	0.97
R9760:Ribc2	UTSW	15	85,027,568 (GRCm39)	missense	probably benign	0.30

Posted On

2015-12-18