Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Rcbtb1'

294508

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rcbtb1

Ensembl Gene

ENSMUSG00000035469

Gene Name

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

Synonyms

5430409I18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

59438658-59474714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59467443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 427 (Y427C)

Ref Sequence

ENSEMBL: ENSMUSP00000037030 (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: Y427C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: Y427C

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: Y427C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: Y427C

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

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Avil	A	G	10: 126,852,222 (GRCm39)	K669R	probably benign	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cpn2	G	A	16: 30,079,653 (GRCm39)	A16V	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Donson	A	T	16: 91,478,064 (GRCm39)	W461R	probably damaging	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Rsbn1l	T	C	5: 21,156,734 (GRCm39)	E17G	probably damaging	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,356,667 (GRCm39)		probably benign	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tmx2	A	T	2: 84,503,588 (GRCm39)		probably benign	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	probably damaging	Het

Other mutations in Rcbtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Rcbtb1	APN	14	59,465,754 (GRCm39)	missense	probably benign	0.19
IGL01954:Rcbtb1	APN	14	59,467,416 (GRCm39)	missense	probably damaging	1.00
IGL02632:Rcbtb1	APN	14	59,462,131 (GRCm39)	missense	probably damaging	0.99
IGL02689:Rcbtb1	APN	14	59,462,149 (GRCm39)	missense	probably damaging	1.00
IGL03201:Rcbtb1	APN	14	59,460,727 (GRCm39)	missense	probably damaging	1.00
IGL03411:Rcbtb1	APN	14	59,447,419 (GRCm39)	start codon destroyed	probably null	1.00
R0014:Rcbtb1	UTSW	14	59,472,691 (GRCm39)	missense	probably benign	0.35
R2858:Rcbtb1	UTSW	14	59,458,861 (GRCm39)	splice site	probably null
R2877:Rcbtb1	UTSW	14	59,448,041 (GRCm39)	splice site	probably benign
R3890:Rcbtb1	UTSW	14	59,465,804 (GRCm39)	missense	possibly damaging	0.67
R3892:Rcbtb1	UTSW	14	59,465,804 (GRCm39)	missense	possibly damaging	0.67
R3945:Rcbtb1	UTSW	14	59,462,225 (GRCm39)	critical splice donor site	probably null
R6869:Rcbtb1	UTSW	14	59,455,051 (GRCm39)	missense	probably benign	0.01
R7224:Rcbtb1	UTSW	14	59,465,828 (GRCm39)	missense	probably damaging	1.00
R7910:Rcbtb1	UTSW	14	59,474,127 (GRCm39)	missense	unknown
R7962:Rcbtb1	UTSW	14	59,459,016 (GRCm39)	missense	probably benign	0.11
R8532:Rcbtb1	UTSW	14	59,447,973 (GRCm39)	nonsense	probably null
R8671:Rcbtb1	UTSW	14	59,467,973 (GRCm39)	missense	probably damaging	0.97
R8676:Rcbtb1	UTSW	14	59,467,401 (GRCm39)	missense	possibly damaging	0.50
R9066:Rcbtb1	UTSW	14	59,462,206 (GRCm39)	missense	possibly damaging	0.50
R9310:Rcbtb1	UTSW	14	59,472,699 (GRCm39)	missense	probably benign	0.05
R9780:Rcbtb1	UTSW	14	59,465,796 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16