Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Ribc2'

184278

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: 0.073) question?

Stock #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

85016279-85028771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85027536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000023067 (fasta)

Gene Model

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

AlphaFold

Q9D4Q1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023067
AA Change: D339G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: D339G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229238

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,473,442 (GRCm39)	Y53C	probably damaging	Het
Acacb	T	A	5: 114,304,076 (GRCm39)	D166E	probably damaging	Het
Akap8l	T	C	17: 32,557,495 (GRCm39)		probably null	Het
Arl6ip5	A	G	6: 97,206,611 (GRCm39)	Y97C	probably damaging	Het
Atad5	T	A	11: 80,024,936 (GRCm39)	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,062,645 (GRCm39)	Q155R	probably damaging	Het
Ccdc33	T	C	9: 57,983,861 (GRCm39)	N446S	probably benign	Het
Cdh2	T	C	18: 16,783,477 (GRCm39)	D84G	probably benign	Het
Cntn6	A	G	6: 104,836,387 (GRCm39)	K918E	probably damaging	Het
Dock6	T	C	9: 21,750,122 (GRCm39)	D521G	probably damaging	Het
Dync2i1	C	A	12: 116,219,681 (GRCm39)	R87L	probably benign	Het
Etv6	C	T	6: 134,225,696 (GRCm39)	A309V	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Figla	T	C	6: 85,994,345 (GRCm39)	L40P	probably damaging	Het
Gabra4	T	A	5: 71,790,939 (GRCm39)	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,783,984 (GRCm39)	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,357,120 (GRCm39)	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,469,765 (GRCm39)	K103E	probably benign	Het
Gne	A	G	4: 44,066,852 (GRCm39)	S23P	probably damaging	Het
Hipk2	A	G	6: 38,795,691 (GRCm39)	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,401,464 (GRCm39)	V283I	probably damaging	Het
Mcm10	A	T	2: 5,013,511 (GRCm39)	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,356,387 (GRCm39)	I462F	possibly damaging	Het
Myh1	T	A	11: 67,101,441 (GRCm39)	I711N	probably damaging	Het
Oit3	A	G	10: 59,274,477 (GRCm39)	F108L	probably damaging	Het
Or4f4b	T	C	2: 111,313,816 (GRCm39)	F14L	probably benign	Het
Or8b49	T	A	9: 38,505,715 (GRCm39)	L66*	probably null	Het
Polr1g	T	C	7: 19,091,003 (GRCm39)	K368R	probably damaging	Het
Rbm19	A	G	5: 120,258,301 (GRCm39)	D172G	probably damaging	Het
Rras2	C	A	7: 113,659,597 (GRCm39)	V56L	probably benign	Het
Scn2a	A	G	2: 65,594,002 (GRCm39)	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,030 (GRCm39)	M236L	probably benign	Het
Snrnp27	C	T	6: 86,659,955 (GRCm39)	R13H	unknown	Het
Srgap2	T	C	1: 131,224,173 (GRCm39)	K92E	probably damaging	Het
Suco	T	C	1: 161,684,428 (GRCm39)	K231E	possibly damaging	Het
Tll2	C	A	19: 41,087,088 (GRCm39)	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940 (GRCm39)	I6L	possibly damaging	Het
Tnc	A	C	4: 63,884,909 (GRCm39)		probably benign	Het
Tob1	G	A	11: 94,105,052 (GRCm39)	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,320,849 (GRCm39)	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,148,149 (GRCm39)	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,469 (GRCm39)		noncoding transcript	Het
Vmn1r88	C	T	7: 12,911,719 (GRCm39)	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,761,342 (GRCm39)	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,718,819 (GRCm39)	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,088 (GRCm39)	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,215,057 (GRCm39)	I347F	probably benign	Het
Wasf2	G	A	4: 132,923,112 (GRCm39)	R474H	probably damaging	Het
Zmym5	T	C	14: 57,041,617 (GRCm39)	H162R	possibly damaging	Het

Other mutations in Ribc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02816:Ribc2	APN	15	85,017,106 (GRCm39)	missense	probably damaging	0.99
IGL02830:Ribc2	APN	15	85,016,458 (GRCm39)	utr 5 prime	probably benign
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

2014-05-07