Mutagenetix > Incidental Mutation

Incidental Mutation 'R3892:Rcbtb1'

310003

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

040804-MU

Accession Numbers

Essential gene?

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

Stock #

R3892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59438658-59474714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59465804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 382 (H382Q)

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

possibly damaging
Transcript: ENSMUST00000022551
AA Change: H382Q

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: H382Q

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

possibly damaging
Transcript: ENSMUST00000043227
AA Change: H382Q

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: H382Q

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: ENSMUST00000147280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153225

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

Meta Mutation Damage Score

0.1057

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
BC061237	A	G	14: 44,738,730 (GRCm39)	D43G	probably benign	Het
Bckdhb	A	C	9: 83,870,863 (GRCm39)	E124D	probably damaging	Het
Card6	T	C	15: 5,128,778 (GRCm39)	T873A	probably benign	Het
Cbs	C	A	17: 31,835,048 (GRCm39)	C476F	probably benign	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Cd248	C	T	19: 5,119,534 (GRCm39)	P461S	probably damaging	Het
Cdh16	T	C	8: 105,342,959 (GRCm39)	Y19C	probably damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Cnnm2	T	A	19: 46,750,232 (GRCm39)	C7*	probably null	Het
Ctnnb1	T	G	9: 120,779,580 (GRCm39)		probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dnah12	A	G	14: 26,578,573 (GRCm39)	M491V	probably benign	Het
Eftud2	A	C	11: 102,737,013 (GRCm39)	I590S	probably damaging	Het
Ep300	T	C	15: 81,504,198 (GRCm39)		probably benign	Het
Fam209	A	G	2: 172,314,618 (GRCm39)	K36E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Flg	A	T	3: 93,186,833 (GRCm39)	Q95L	probably benign	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Ggcx	G	A	6: 72,395,355 (GRCm39)	V149M	probably damaging	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
H2-M10.1	T	A	17: 36,635,281 (GRCm39)	Q250L	possibly damaging	Het
Hecw2	A	T	1: 53,965,280 (GRCm39)	N515K	probably benign	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Klf5	T	A	14: 99,536,509 (GRCm39)	F27I	probably benign	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lrrc14b	T	C	13: 74,511,787 (GRCm39)	S98G	probably benign	Het
Lrrc7	A	G	3: 157,866,333 (GRCm39)	V1136A	probably benign	Het
Map3k11	G	T	19: 5,752,311 (GRCm39)	C831F	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Myd88	T	C	9: 119,166,882 (GRCm39)	D225G	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or4f15	A	C	2: 111,813,486 (GRCm39)	M311R	probably benign	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Plxna4	C	A	6: 32,192,589 (GRCm39)	D791Y	probably damaging	Het
Pole	T	G	5: 110,484,305 (GRCm39)	I320M	probably damaging	Het
Psg23	G	T	7: 18,345,966 (GRCm39)	T243N	probably damaging	Het
Ptma-ps1	A	G	7: 23,763,543 (GRCm39)		noncoding transcript	Het
Ptprk	A	T	10: 28,139,617 (GRCm39)	Q114L	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rabgef1	A	G	5: 130,237,520 (GRCm39)		probably benign	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sacs	T	G	14: 61,441,836 (GRCm39)	I1294R	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snrnp48	G	A	13: 38,401,365 (GRCm39)	S204N	possibly damaging	Het
Sp3	A	G	2: 72,809,376 (GRCm39)		probably benign	Het
St8sia6	G	A	2: 13,677,335 (GRCm39)	H161Y	probably benign	Het
Strip2	A	T	6: 29,917,074 (GRCm39)		probably benign	Het
Trank1	T	C	9: 111,193,827 (GRCm39)	V617A	probably benign	Het
Uvssa	T	A	5: 33,547,096 (GRCm39)	S221T	probably benign	Het
Vmn2r75	A	T	7: 85,813,494 (GRCm39)	L436Q	probably null	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het
Zfp407	C	T	18: 84,578,477 (GRCm39)	V879I	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	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
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
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'- GGGTTTGTCAACTGAGTCATGAAC -3'
(R):5'- TCCTGGGTAACGAGCAGTAAC -3'

Sequencing Primer
(F):5'- GACGCCATAATTATCTTTTGGAGGCC -3'
(R):5'- CCTGGGTAACGAGCAGTAACTATCTG -3'

Posted On

2015-04-17