Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Ribc2'

56531

Institutional Source

Beutler Lab

Gene Symbol

Ribc2

Ensembl Gene

ENSMUSG00000022431

Gene Name

RIB43A domain with coiled-coils 2

Synonyms

Trib, 4930579A10Rik

MMRRC Submission

038773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0583 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

85132078-85144570 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 85132914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023068 (fasta)

Gene Model

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

AlphaFold

Q9D4Q1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023067
AA Change: Q51L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: Q51L

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

Predicted Effect

probably null
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: Q51L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,257,643	S483P	probably benign	Het
2700081O15Rik	A	G	19: 7,420,274	D62G	probably damaging	Het
5730480H06Rik	A	G	5: 48,380,128	H169R	probably damaging	Het
Actn1	T	A	12: 80,199,029	I127F	probably damaging	Het
AW822073	G	A	10: 58,223,388	L515F	probably damaging	Het
Cadm3	T	G	1: 173,341,171	T277P	probably benign	Het
Cast	T	C	13: 74,713,678	T629A	probably damaging	Het
Cblc	C	A	7: 19,792,561	C201F	probably benign	Het
Ccdc154	T	A	17: 25,168,424	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,473,183	D201G	probably damaging	Het
Cep95	T	C	11: 106,814,623	V478A	probably benign	Het
Ciita	T	C	16: 10,523,804		probably null	Het
Clec4e	A	G	6: 123,283,694	F135S	probably damaging	Het
Cntn6	A	G	6: 104,776,314	D337G	possibly damaging	Het
Crlf3	A	T	11: 80,059,281	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,407,601	F93I	probably damaging	Het
Dopey2	T	C	16: 93,755,486	I271T	probably benign	Het
Fcho1	T	C	8: 71,715,725	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,903,990	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,121,813	V244A	possibly damaging	Het
Ikzf5	A	G	7: 131,391,785		probably null	Het
Ilvbl	T	A	10: 78,583,267	V450E	probably damaging	Het
Kcns3	T	G	12: 11,091,478	N407H	probably damaging	Het
Klhl11	T	C	11: 100,464,324	K224E	possibly damaging	Het
Klra17	T	A	6: 129,868,693	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,498,437	D2054G	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrgbp	A	G	2: 180,584,446	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Muc5ac	C	A	7: 141,807,608	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,856,698	Y1269*	probably null	Het
Myef2	T	C	2: 125,097,981		probably null	Het
Myg1	C	T	15: 102,337,790	Q367*	probably null	Het
Nalcn	T	C	14: 123,294,343	N1365S	possibly damaging	Het
Nfu1	T	C	6: 87,009,952	C18R	probably benign	Het
Nkx2-6	A	T	14: 69,174,779	Q132L	probably damaging	Het
Olfr1085	T	A	2: 86,658,360	I33F	probably benign	Het
Olfr516	C	T	7: 108,845,414	A199T	possibly damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Prh1	A	T	6: 132,571,833	Q101L	unknown	Het
Rnf19a	C	A	15: 36,253,005	R396L	probably damaging	Het
Sdad1	A	G	5: 92,305,064	I105T	probably damaging	Het
Sec24b	G	T	3: 130,041,311	Y79*	probably null	Het
Tatdn2	A	G	6: 113,702,525	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952	F725V	probably damaging	Het
Themis3	T	C	17: 66,559,753	D164G	probably benign	Het
Ubxn7	T	C	16: 32,375,914	W220R	probably damaging	Het
Usp33	C	A	3: 152,368,254	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,676,781	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,618,949	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Yme1l1	T	C	2: 23,186,250	V340A	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
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

Predicted Primers

PCR Primer
(F):5'- CAAAGGCTTCCACGTATGGGAAGG -3'
(R):5'- TGCTCCAGCACACAAGTGTCAC -3'

Sequencing Primer
(F):5'- GAAGGGAACCTTTAATGCTGTG -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2013-07-11