Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03350:Ribc2'

419669

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ribc2

Ensembl Gene

ENSMUSG00000022431

Gene Name

RIB43A domain with coiled-coils 2

Synonyms

Trib, 4930579A10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

85132078-85144570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85135502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 162 (W162R)

Ref Sequence

ENSEMBL: ENSMUSP00000154931 (fasta)

Gene Model

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

AlphaFold

Q9D4Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023067
AA Change: W162R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: W162R

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 damaging
Transcript: ENSMUST00000229238
AA Change: W162R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Brat1	T	C	5: 140,705,995	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Flt4	C	A	11: 49,634,793	S722*	probably null	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Nfs1	T	C	2: 156,127,740	E329G	probably benign	Het
Npsr1	T	C	9: 24,098,309	V37A	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Rnf4	A	G	5: 34,346,860	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188	T126A	probably benign	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	probably benign	Het

Other mutations in Ribc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02028:Ribc2	APN	15	85143335	missense	possibly damaging	0.95
IGL02816:Ribc2	APN	15	85132905	missense	probably damaging	0.99
IGL02830:Ribc2	APN	15	85132257	utr 5 prime	probably benign
IGL03336:Ribc2	APN	15	85132913	nonsense	probably null
R0583:Ribc2	UTSW	15	85132914	splice site	probably null
R3685:Ribc2	UTSW	15	85135334	missense	possibly damaging	0.89
R3943:Ribc2	UTSW	15	85135250	missense	probably benign	0.00
R3944:Ribc2	UTSW	15	85135250	missense	probably benign	0.00
R4758:Ribc2	UTSW	15	85141666	missense	probably damaging	1.00
R7234:Ribc2	UTSW	15	85135532	missense	probably benign	0.00
R7472:Ribc2	UTSW	15	85135245	missense	probably benign	0.33
R7567:Ribc2	UTSW	15	85143247	missense	probably damaging	0.98
R7653:Ribc2	UTSW	15	85141675	missense	probably benign	0.36
R8370:Ribc2	UTSW	15	85143288	missense	probably benign	0.00
R8443:Ribc2	UTSW	15	85135260	missense	probably benign	0.00
R8971:Ribc2	UTSW	15	85132136	start gained	probably benign
R9072:Ribc2	UTSW	15	85137962	missense	probably damaging	0.97
R9073:Ribc2	UTSW	15	85137962	missense	probably damaging	0.97
R9760:Ribc2	UTSW	15	85143367	missense	probably benign	0.30

Posted On

2016-08-02