Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Rcbtb1'

661177

Institutional Source

Beutler Lab

Gene Symbol

Rcbtb1

Ensembl Gene

ENSMUSG00000035469

Gene Name

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59201209-59237265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59230524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 480 (V480G)

Ref Sequence

ENSEMBL: ENSMUSP00000022551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022551] [ENSMUST00000043227] [ENSMUST00000172810] [ENSMUST00000174009]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022551
AA Change: V480G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: V480G

Domain	Start	End	E-Value	Type
Pfam:RCC1	40	89	3.9e-8	PFAM
Pfam:RCC1	93	143	2e-13	PFAM
Pfam:RCC1_2	130	159	5.7e-12	PFAM
Pfam:RCC1	146	196	2.2e-13	PFAM
Pfam:RCC1_2	183	212	3.2e-8	PFAM
Pfam:RCC1	199	248	5.3e-17	PFAM
Pfam:RCC1_2	235	264	2.2e-11	PFAM
Pfam:RCC1	251	300	2.3e-15	PFAM
BTB	370	467	4.14e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000043227
AA Change: V480G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: V480G

Domain	Start	End	E-Value	Type
Pfam:RCC1	40	88	3.2e-7	PFAM
Pfam:RCC1	93	143	2.6e-13	PFAM
Pfam:RCC1_2	130	159	3.7e-12	PFAM
Pfam:RCC1	146	196	3.8e-14	PFAM
Pfam:RCC1_2	183	212	6.5e-8	PFAM
Pfam:RCC1	199	248	1.3e-16	PFAM
Pfam:RCC1_2	235	264	3.5e-10	PFAM
Pfam:RCC1	251	300	1.2e-13	PFAM
BTB	370	467	4.14e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172810

Predicted Effect

probably benign
Transcript: ENSMUST00000174009

Predicted Effect

probably benign
Transcript: ENSMUST00000174830

SMART Domains

Protein: ENSMUSP00000133421
Gene: ENSMUSG00000035469

Domain	Start	End	E-Value	Type
Pfam:RCC1	1	48	2e-12	PFAM
Pfam:RCC1_2	33	64	4.8e-13	PFAM
Pfam:RCC1	51	93	7.8e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Rcbtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Rcbtb1	APN	14	59228305	missense	probably benign	0.19
IGL01954:Rcbtb1	APN	14	59229967	missense	probably damaging	1.00
IGL02458:Rcbtb1	APN	14	59229994	missense	probably damaging	1.00
IGL02632:Rcbtb1	APN	14	59224682	missense	probably damaging	0.99
IGL02689:Rcbtb1	APN	14	59224700	missense	probably damaging	1.00
IGL03201:Rcbtb1	APN	14	59223278	missense	probably damaging	1.00
IGL03411:Rcbtb1	APN	14	59209970	start codon destroyed	probably null	1.00
R0014:Rcbtb1	UTSW	14	59235242	missense	probably benign	0.35
R2858:Rcbtb1	UTSW	14	59221412	splice site	probably null
R2877:Rcbtb1	UTSW	14	59210592	splice site	probably benign
R3890:Rcbtb1	UTSW	14	59228355	missense	possibly damaging	0.67
R3892:Rcbtb1	UTSW	14	59228355	missense	possibly damaging	0.67
R3945:Rcbtb1	UTSW	14	59224776	critical splice donor site	probably null
R6869:Rcbtb1	UTSW	14	59217602	missense	probably benign	0.01
R7224:Rcbtb1	UTSW	14	59228379	missense	probably damaging	1.00
R7910:Rcbtb1	UTSW	14	59236678	missense	unknown
R7962:Rcbtb1	UTSW	14	59221567	missense	probably benign	0.11
R8532:Rcbtb1	UTSW	14	59210524	nonsense	probably null
R8676:Rcbtb1	UTSW	14	59229952	missense	possibly damaging	0.50
R9066:Rcbtb1	UTSW	14	59224757	missense	possibly damaging	0.50
R9310:Rcbtb1	UTSW	14	59235250	missense	probably benign	0.05
R9780:Rcbtb1	UTSW	14	59228347	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTGCTGGCCATGAAATGC -3'
(R):5'- CAGTTCCTTAGAAGCAAAGCAGAC -3'

Sequencing Primer
(F):5'- CCATGAAATGCCCGTGTTGTCAG -3'
(R):5'- GCAGACAAACAATGATTCTGACTGTG -3'

Posted On

2021-03-08