Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Rcbtb1'

260637

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

5430409I18Rik

MMRRC Submission

040465-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59438658-59474714 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 59448041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022551] [ENSMUST00000043227] [ENSMUST00000140136] [ENSMUST00000142326] [ENSMUST00000172810] [ENSMUST00000173547] [ENSMUST00000174009]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022551

SMART Domains

Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469

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 benign
Transcript: ENSMUST00000043227

SMART Domains

Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469

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

noncoding transcript
Transcript: ENSMUST00000095778

Predicted Effect

probably benign
Transcript: ENSMUST00000140136

Predicted Effect

probably benign
Transcript: ENSMUST00000142326

Predicted Effect

probably benign
Transcript: ENSMUST00000172810

Predicted Effect

probably benign
Transcript: ENSMUST00000173547

SMART Domains

Protein: ENSMUSP00000134360
Gene: ENSMUSG00000035469

Domain	Start	End	E-Value	Type
Pfam:RCC1	40	89	9.6e-9	PFAM
Pfam:RCC1	93	143	4.7e-14	PFAM
Pfam:RCC1_2	130	159	1.7e-12	PFAM
Pfam:RCC1	146	196	5.3e-14	PFAM
Pfam:RCC1_2	183	208	7.9e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174009

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110 (GRCm39)	M188T	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Eipr1	C	T	12: 28,810,091 (GRCm39)	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxa3	A	T	7: 18,748,805 (GRCm39)	M107K	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Kiz	T	C	2: 146,731,476 (GRCm39)	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,211,209 (GRCm39)	D293G	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Zcchc8	C	T	5: 123,838,766 (GRCm39)	V591I	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	probably benign	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
IGL02458:Rcbtb1	APN	14	59,467,443 (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
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

Predicted Primers

PCR Primer
(F):5'- ATGCAAGCAGAGGTGTTTGT -3'
(R):5'- TGGCCTCAAATGTCTTAAATTGTTCC -3'

Sequencing Primer
(F):5'- CAAGCAGAGGTGTTTGTTTTCCAG -3'
(R):5'- GGACCCCTGAGATCTTTCAAACATTG -3'

Posted On

2015-01-23