Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Ribc2'

654339

Institutional Source

Beutler Lab

Gene Symbol

Ribc2

Ensembl Gene

ENSMUSG00000022431

Gene Name

RIB43A domain with coiled-coils 2

Synonyms

Trib, 4930579A10Rik

MMRRC Submission

067825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85132078-85144570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85135260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 81 (D81G)

Ref Sequence

ENSEMBL: ENSMUSP00000023067 (fasta)

Gene Model

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

AlphaFold

Q9D4Q1

Predicted Effect

probably benign
Transcript: ENSMUST00000023067
AA Change: D81G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: D81G

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
AA Change: D81G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,613,456 (GRCm38)	V1090A	probably benign	Het
2410089E03Rik	A	G	15: 8,201,151 (GRCm38)	I971V	probably benign	Het
Abcc6	C	T	7: 45,980,025 (GRCm38)	V1293M	probably damaging	Het
Agt	A	G	8: 124,563,798 (GRCm38)	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,713,099 (GRCm38)	N457K	probably benign	Het
Bcl3	G	T	7: 19,820,157 (GRCm38)	H95Q	probably benign	Het
C1d	T	A	11: 17,263,662 (GRCm38)	N64K	probably damaging	Het
Casc3	C	T	11: 98,822,781 (GRCm38)	R280C	probably damaging	Het
Cd300c2	C	T	11: 115,000,640 (GRCm38)	S136N	probably benign	Het
Cdh8	A	G	8: 99,031,040 (GRCm38)	V642A	possibly damaging	Het
Cep290	A	T	10: 100,495,844 (GRCm38)	I180F	possibly damaging	Het
Copz2	A	G	11: 96,854,061 (GRCm38)	E86G	probably damaging	Het
Csf3r	A	T	4: 126,029,919 (GRCm38)	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,838,940 (GRCm38)	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,375,667 (GRCm38)	Q580R	probably damaging	Het
Dnaic2	A	T	11: 114,754,449 (GRCm38)	K570M	unknown	Het
Dock8	A	G	19: 25,155,917 (GRCm38)	K1143E	probably benign	Het
Dxo	T	C	17: 34,839,123 (GRCm38)	S394P	probably benign	Het
Etl4	A	G	2: 20,806,166 (GRCm38)	D1388G	probably benign	Het
F13a1	C	A	13: 37,025,718 (GRCm38)	R91L	probably damaging	Het
Fam35a	A	C	14: 34,267,985 (GRCm38)	N321K	probably benign	Het
Fam50b	C	T	13: 34,746,873 (GRCm38)	R111*	probably null	Het
Fat2	T	G	11: 55,311,709 (GRCm38)	N180H	probably damaging	Het
Fitm2	A	T	2: 163,469,848 (GRCm38)	H148Q	probably benign	Het
Fjx1	A	T	2: 102,450,811 (GRCm38)	S260T	possibly damaging	Het
Fos	T	C	12: 85,475,692 (GRCm38)	L165P	probably damaging	Het
Gm39115	C	A	7: 142,135,973 (GRCm38)	C21F	unknown	Het
Gucy1a1	C	T	3: 82,097,693 (GRCm38)	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,329,109 (GRCm38)	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,928,744 (GRCm38)	K9N	probably damaging	Het
Ireb2	T	C	9: 54,903,981 (GRCm38)	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,519,348 (GRCm38)	V2580I	probably damaging	Het
Kcnu1	G	A	8: 25,892,064 (GRCm38)	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,793,076 (GRCm38)	A90S	probably benign	Het
Klra8	A	G	6: 130,128,093 (GRCm38)	V23A	probably damaging	Het
Lig4	A	G	8: 9,973,777 (GRCm38)	M1T	probably null	Het
Lpin3	C	T	2: 160,895,353 (GRCm38)	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,375,855 (GRCm38)	K1100*	probably null	Het
Obscn	G	A	11: 59,038,874 (GRCm38)	H5172Y	probably damaging	Het
Olfr1181	A	G	2: 88,423,401 (GRCm38)	I208T	probably benign	Het
Olfr1348	T	A	7: 6,501,735 (GRCm38)	T170S	probably damaging	Het
Olfr290	C	T	7: 84,916,579 (GRCm38)	H267Y	probably benign	Het
Olfr512	T	A	7: 108,714,211 (GRCm38)	M286K	possibly damaging	Het
Olfr892-ps1	A	T	9: 38,190,202 (GRCm38)	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173 (GRCm38)	L298P	probably damaging	Het
Otub1	A	G	19: 7,199,995 (GRCm38)	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,686,642 (GRCm38)	S156P	probably benign	Het
Pde3b	A	G	7: 114,526,894 (GRCm38)	M788V	probably damaging	Het
Pias4	A	G	10: 81,157,010 (GRCm38)		probably null	Het
Polg	A	G	7: 79,464,995 (GRCm38)	C73R	probably benign	Het
Ptbp2	T	C	3: 119,747,818 (GRCm38)	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,493,629 (GRCm38)	F175I	probably damaging	Het
Rfx1	A	G	8: 84,079,886 (GRCm38)	T108A	probably benign	Het
Rnf213	T	G	11: 119,449,323 (GRCm38)	M3460R		Het
Rsf1	T	A	7: 97,616,896 (GRCm38)	S86T		Het
Rxfp2	C	A	5: 150,049,603 (GRCm38)	T181N	possibly damaging	Het
Samm50	G	A	15: 84,210,501 (GRCm38)	E365K	possibly damaging	Het
Slc22a18	T	C	7: 143,497,386 (GRCm38)	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,133,441 (GRCm38)	C97S	probably benign	Het
Smchd1	T	A	17: 71,407,249 (GRCm38)	H873L	probably benign	Het
Snrpa1	G	A	7: 66,070,633 (GRCm38)	G195R	probably benign	Het
Sphkap	T	A	1: 83,278,232 (GRCm38)	I599F	probably benign	Het
Stox1	A	G	10: 62,665,764 (GRCm38)	V339A	probably damaging	Het
Tlx1	A	G	19: 45,153,597 (GRCm38)	E220G	probably damaging	Het
Tmem71	C	A	15: 66,541,572 (GRCm38)		probably null	Het
Tmprss3	T	C	17: 31,195,002 (GRCm38)	D56G	possibly damaging	Het
Trabd	A	G	15: 89,085,904 (GRCm38)	R368G	probably benign	Het
Trf	A	G	9: 103,217,476 (GRCm38)	I461T	probably damaging	Het
Trpm3	A	G	19: 22,698,862 (GRCm38)	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,295,383 (GRCm38)	V667I	possibly damaging	Het
Ttc30a1	T	C	2: 75,981,175 (GRCm38)	D188G	probably benign	Het
Vps13b	T	A	15: 35,455,100 (GRCm38)	N718K	probably benign	Het
Zdbf2	T	C	1: 63,306,007 (GRCm38)	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,576,892 (GRCm38)	D235G	probably benign	Het
Zfp407	T	C	18: 84,209,862 (GRCm38)	E1874G	probably damaging	Het
Zfp503	T	C	14: 21,986,209 (GRCm38)	K213R	probably benign	Het
Zkscan2	A	G	7: 123,485,428 (GRCm38)	V491A	probably damaging	Het

Other mutations in Ribc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02028:Ribc2	APN	15	85,143,335 (GRCm38)	missense	possibly damaging	0.95
IGL02816:Ribc2	APN	15	85,132,905 (GRCm38)	missense	probably damaging	0.99
IGL02830:Ribc2	APN	15	85,132,257 (GRCm38)	utr 5 prime	probably benign
IGL03336:Ribc2	APN	15	85,132,913 (GRCm38)	nonsense	probably null
IGL03350:Ribc2	APN	15	85,135,502 (GRCm38)	missense	probably damaging	1.00
R0583:Ribc2	UTSW	15	85,132,914 (GRCm38)	splice site	probably null
R3685:Ribc2	UTSW	15	85,135,334 (GRCm38)	missense	possibly damaging	0.89
R3943:Ribc2	UTSW	15	85,135,250 (GRCm38)	missense	probably benign	0.00
R3944:Ribc2	UTSW	15	85,135,250 (GRCm38)	missense	probably benign	0.00
R4758:Ribc2	UTSW	15	85,141,666 (GRCm38)	missense	probably damaging	1.00
R7234:Ribc2	UTSW	15	85,135,532 (GRCm38)	missense	probably benign	0.00
R7472:Ribc2	UTSW	15	85,135,245 (GRCm38)	missense	probably benign	0.33
R7567:Ribc2	UTSW	15	85,143,247 (GRCm38)	missense	probably damaging	0.98
R7653:Ribc2	UTSW	15	85,141,675 (GRCm38)	missense	probably benign	0.36
R8370:Ribc2	UTSW	15	85,143,288 (GRCm38)	missense	probably benign	0.00
R8971:Ribc2	UTSW	15	85,132,136 (GRCm38)	start gained	probably benign
R9072:Ribc2	UTSW	15	85,137,962 (GRCm38)	missense	probably damaging	0.97
R9073:Ribc2	UTSW	15	85,137,962 (GRCm38)	missense	probably damaging	0.97
R9760:Ribc2	UTSW	15	85,143,367 (GRCm38)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTACAGTGCTGAGCCTTGTC -3'
(R):5'- TCCTGATATGGTGTTCCGCATG -3'

Sequencing Primer
(F):5'- TTTTTAGATAGGTGATCTCTGCTCC -3'
(R):5'- ATGTCATTGTCTGAAATGCGGGC -3'

Posted On

2020-10-20