Mutagenetix > Incidental Mutations

Incidental Mutation 'R8676:Rcbtb1'

661410

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: 0.271) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59201209-59237265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59229952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 413 (I413T)

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

possibly damaging
Transcript: ENSMUST00000022551
AA Change: I413T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022551
Gene: ENSMUSG00000035469
AA Change: I413T

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: I413T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037030
Gene: ENSMUSG00000035469
AA Change: I413T

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: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	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
R8671:Rcbtb1	UTSW	14	59230524	missense	probably damaging	0.97
R9066:Rcbtb1	UTSW	14	59224757	missense	possibly damaging	0.50
R9310:Rcbtb1	UTSW	14	59235250	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTTAGTGACCCCAGCTTATG -3'
(R):5'- GCCAGCAGCTTGTGTTTAC -3'

Sequencing Primer
(F):5'- AGCTTATGCCAGCACAGAAG -3'
(R):5'- AGCAGCTTGTGTTTACTTTCTATAC -3'

Posted On

2021-03-08