Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Rcbtb1'

310361

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

040802-MU

Accession Numbers

Essential gene?

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

Stock #

R3890 (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: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Gcat	T	A	15: 78,921,376 (GRCm39)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	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
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably 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
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	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
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
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'- GGGTTTGTCAACTGAGTCATGAAC -3'
(R):5'- CTCCTGGGTAACGAGCAGTAAC -3'

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

Posted On

2015-04-17