Mutagenetix > Incidental Mutation

Incidental Mutation 'R9760:Ribc2'

732975

Institutional Source

Beutler Lab

Gene Symbol

Ribc2

Ensembl Gene

ENSMUSG00000022431

Gene Name

RIB43A domain with coiled-coils 2

Synonyms

Trib, 4930579A10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85132078-85144570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85143367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 350 (Y350N)

Ref Sequence

ENSEMBL: ENSMUSP00000023067 (fasta)

Gene Model

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

AlphaFold

Q9D4Q1

Predicted Effect

probably benign
Transcript: ENSMUST00000023067
AA Change: Y350N

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: Y350N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229238

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,581,930		probably null	Het
Adamts4	G	A	1: 171,258,765	D709N	probably benign	Het
Arhgef12	G	T	9: 42,992,022	D745E	probably damaging	Het
BC005561	T	C	5: 104,519,235	V541A	probably benign	Het
Cep250	A	G	2: 155,976,553	K883E	probably benign	Het
Cfdp1	T	C	8: 111,768,783	I268V	probably benign	Het
Cgnl1	G	T	9: 71,645,571	S1037*	probably null	Het
Clca3b	T	C	3: 144,846,849	N142S	probably benign	Het
Col6a6	A	T	9: 105,782,054	I564N	probably damaging	Het
Coq4	G	T	2: 29,788,470	R36L	probably benign	Het
Dact3	G	A	7: 16,886,206	S542N	unknown	Het
Dcaf1	A	G	9: 106,874,267	D1480G	unknown	Het
Dcdc2a	C	T	13: 25,205,460	T457I	probably damaging	Het
Ddi2	A	G	4: 141,683,885	V572A	probably damaging	Het
Ddx54	C	T	5: 120,623,607	R483C	probably benign	Het
Dennd5b	G	A	6: 149,068,499	S152F	probably benign	Het
Efcab14	C	T	4: 115,758,875	H252Y	probably benign	Het
Efhb	A	T	17: 53,463,270	F4I	probably damaging	Het
Esrrg	A	G	1: 188,043,372	D32G	probably benign	Het
Fam126a	T	C	5: 23,979,574	Q302R	possibly damaging	Het
Fam160b2	A	C	14: 70,590,181	V158G	possibly damaging	Het
Far2	C	A	6: 148,158,950	A267E	probably damaging	Het
Flnb	T	C	14: 7,929,846	I1992T	probably damaging	Het
Fmnl2	A	G	2: 53,054,515	S169G		Het
Galnt10	G	A	11: 57,765,688	V233I	probably benign	Het
Gbf1	C	A	19: 46,255,698	N210K	probably benign	Het
Gbp3	T	G	3: 142,570,522	S460A	probably benign	Het
Gm12185	T	A	11: 48,915,341	H341L	probably benign	Het
Gm14025	A	T	2: 129,038,579	S476T		Het
Gm5592	A	T	7: 41,289,810	I839F	possibly damaging	Het
Gnptab	A	G	10: 88,431,448	D467G	probably damaging	Het
Grin3a	A	T	4: 49,714,213	M844K	probably damaging	Het
Gtf2a1l	A	G	17: 88,711,592	D368G	probably benign	Het
Herc2	G	C	7: 56,163,911		probably null	Het
Ins2	T	A	7: 142,679,448	H29L	probably damaging	Het
Ipo13	T	A	4: 117,905,581	Y275F	probably benign	Het
Kcnj15	T	A	16: 95,295,624	M35K	probably benign	Het
Kif21b	G	A	1: 136,148,683	V321M	probably damaging	Het
Lcmt1	T	A	7: 123,430,152	Y332*	probably null	Het
Malt1	A	G	18: 65,448,212	Q237R	probably benign	Het
Micall1	G	A	15: 79,120,832	C168Y	unknown	Het
Muc5ac	A	G	7: 141,807,248	K1432R	probably benign	Het
Nacad	A	G	11: 6,601,662	S510P	probably benign	Het
Nub1	T	C	5: 24,692,967	L117P	possibly damaging	Het
Olfr119	T	C	17: 37,701,543	L291P	probably damaging	Het
Olfr312	A	G	11: 58,832,026	R291G	probably damaging	Het
Olfr938	A	T	9: 39,077,975	F257I	possibly damaging	Het
Pkdrej	T	C	15: 85,821,067	K223E	probably benign	Het
Prkdc	T	A	16: 15,839,180	Y4046*	probably null	Het
Prpf8	A	G	11: 75,503,431	N1767D	probably benign	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
R3hdm2	G	T	10: 127,444,313	M18I	unknown	Het
Rab35	C	A	5: 115,640,165	D63E	probably damaging	Het
Sec63	A	G	10: 42,828,948	I733V	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,133,281		probably null	Het
Slc38a4	T	C	15: 96,998,451	K512E	probably damaging	Het
Stk35	G	A	2: 129,800,685	V49I	probably benign	Het
Tango6	A	G	8: 106,850,279	E1055G	probably damaging	Het
Tas2r137	A	G	6: 40,492,102	I289V	probably benign	Het
Tll2	C	T	19: 41,130,645	V215M	probably damaging	Het
Tmem30a	A	T	9: 79,780,592	N98K	probably benign	Het
Trav9n-4	C	A	14: 53,294,833	A48E	probably benign	Het
Vmn1r192	A	G	13: 22,187,840	F70S	probably damaging	Het
Wdr89	A	G	12: 75,633,252	V76A	probably damaging	Het
Zfp229	A	T	17: 21,746,294	T502S	probably damaging	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
IGL03350:Ribc2	APN	15	85135502	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGCCCAAGAGAATCCCTTTTC -3'
(R):5'- CAGACTGACATGTGAAAGAGCC -3'

Sequencing Primer
(F):5'- AAGAGAATCCCTTTTCCTGCC -3'
(R):5'- AAAGAGCCTGGGAGCCCTC -3'

Posted On

2022-11-14