Mutagenetix > Incidental Mutation

Incidental Mutation 'BB011:Rbak'

642628

Institutional Source

Beutler Lab

Gene Symbol

Rbak

Ensembl Gene

ENSMUSG00000061898

Gene Name

RB-associated KRAB zinc finger

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

BB011

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143157941-143166530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143160241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 271 (S271P)

Ref Sequence

ENSEMBL: ENSMUSP00000059273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049861] [ENSMUST00000165318]

AlphaFold

Q8BQC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049861
AA Change: S271P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: S271P

Domain	Start	End	E-Value	Type
KRAB	8	68	6.89e-36	SMART
ZnF_C2H2	258	280	1.1e-2	SMART
ZnF_C2H2	286	308	1.4e-4	SMART
ZnF_C2H2	314	336	5.21e-4	SMART
ZnF_C2H2	342	364	1.95e-3	SMART
ZnF_C2H2	370	392	2.3e-5	SMART
ZnF_C2H2	398	420	3.95e-4	SMART
ZnF_C2H2	426	448	5.59e-4	SMART
ZnF_C2H2	454	476	1.12e-3	SMART
ZnF_C2H2	508	528	1.4e1	SMART
ZnF_C2H2	536	558	3.89e-3	SMART
ZnF_C2H2	564	586	1.04e-3	SMART
ZnF_C2H2	592	614	5.42e-2	SMART
ZnF_C2H2	620	642	1.5e-4	SMART
ZnF_C2H2	648	670	9.22e-5	SMART
ZnF_C2H2	676	698	5.21e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165318
AA Change: S271P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: S271P

Domain	Start	End	E-Value	Type
KRAB	8	68	6.89e-36	SMART
ZnF_C2H2	258	280	1.1e-2	SMART
ZnF_C2H2	286	308	1.4e-4	SMART
ZnF_C2H2	314	336	5.21e-4	SMART
ZnF_C2H2	342	364	1.95e-3	SMART
ZnF_C2H2	370	392	2.3e-5	SMART
ZnF_C2H2	398	420	3.95e-4	SMART
ZnF_C2H2	426	448	5.59e-4	SMART
ZnF_C2H2	454	476	1.12e-3	SMART
ZnF_C2H2	508	528	1.4e1	SMART
ZnF_C2H2	536	558	3.89e-3	SMART
ZnF_C2H2	564	586	1.04e-3	SMART
ZnF_C2H2	592	614	5.42e-2	SMART
ZnF_C2H2	620	642	1.5e-4	SMART
ZnF_C2H2	648	670	9.22e-5	SMART
ZnF_C2H2	676	698	5.21e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,383,281 (GRCm39)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 84,456,029 (GRCm39)	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,353,731 (GRCm39)	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,317,230 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,622,641 (GRCm39)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,658,602 (GRCm39)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,605,515 (GRCm39)	S65P	unknown	Het
Bbx	A	T	16: 50,044,671 (GRCm39)	L630H	probably damaging	Het
Cars1	T	C	7: 143,123,608 (GRCm39)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,486,824 (GRCm39)	H450Q	probably benign	Het
Cdt1	T	C	8: 123,296,091 (GRCm39)	L135P	probably damaging	Het
Cfap206	T	A	4: 34,728,833 (GRCm39)	H24L	probably benign	Het
Cilk1	T	C	9: 78,062,746 (GRCm39)	L260P	probably damaging	Het
Cnga4	T	A	7: 105,057,028 (GRCm39)	V480E	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,449 (GRCm39)	T271I	possibly damaging	Het
Dlc1	T	C	8: 37,038,570 (GRCm39)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,258,590 (GRCm39)	D1927G	probably benign	Het
Dscc1	A	T	15: 54,945,572 (GRCm39)	D374E	probably benign	Het
Eci2	G	A	13: 35,177,053 (GRCm39)	Q69*	probably null	Het
Ep300	C	A	15: 81,533,703 (GRCm39)	P1920Q	unknown	Het
Epha5	A	G	5: 84,232,705 (GRCm39)	Y629H	possibly damaging	Het
Fat2	G	A	11: 55,153,613 (GRCm39)	T3533I	probably benign	Het
Fat3	T	C	9: 15,910,593 (GRCm39)	N1803S	probably damaging	Het
Fcrl2	T	C	3: 87,166,840 (GRCm39)	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcnt2	A	T	13: 41,072,040 (GRCm39)	K228*	probably null	Het
Gucy2c	A	T	6: 136,740,053 (GRCm39)	V258E	probably benign	Het
Hecw1	C	A	13: 14,497,113 (GRCm39)	L298F	probably damaging	Het
Hydin	T	G	8: 111,145,103 (GRCm39)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,829,524 (GRCm39)	Y131C	probably damaging	Het
Mpo	A	G	11: 87,685,666 (GRCm39)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,689,208 (GRCm39)	*202Q	probably null	Het
Mrps14	T	C	1: 160,024,559 (GRCm39)	V30A	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,281,631 (GRCm39)	G497W	probably damaging	Het
Nnt	A	T	13: 119,523,181 (GRCm39)	V237D	probably damaging	Het
Nox4	G	T	7: 87,023,589 (GRCm39)	V492L	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Or5ak23	T	C	2: 85,244,563 (GRCm39)	Y220C	probably benign	Het
Or6aa1	A	G	7: 86,043,938 (GRCm39)	I256T	probably damaging	Het
Pard3	A	G	8: 128,137,231 (GRCm39)	N861S	probably benign	Het
Pdlim4	G	A	11: 53,946,048 (GRCm39)	R230*	probably null	Het
Pinlyp	C	T	7: 24,241,550 (GRCm39)	V159M	possibly damaging	Het
Plcb1	A	T	2: 135,201,613 (GRCm39)	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,309 (GRCm39)	D409V	possibly damaging	Het
Prom1	T	C	5: 44,187,111 (GRCm39)	D382G	probably benign	Het
Prss16	A	T	13: 22,192,834 (GRCm39)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,804,884 (GRCm39)	D133G	probably benign	Het
Rasef	C	T	4: 73,659,166 (GRCm39)		probably null	Het
Rbm20	A	T	19: 53,666,016 (GRCm39)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Serpinb3c	A	G	1: 107,200,904 (GRCm39)	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,506,376 (GRCm39)	Y211C	unknown	Het
Sorbs2	C	T	8: 46,248,507 (GRCm39)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,180,733 (GRCm39)	S58R	probably benign	Het
Spryd3	A	G	15: 102,026,762 (GRCm39)	I329T	probably benign	Het
St8sia2	G	A	7: 73,616,700 (GRCm39)	L113F	probably damaging	Het
Star	T	C	8: 26,299,883 (GRCm39)	I75T	possibly damaging	Het
Tasor2	A	T	13: 3,644,331 (GRCm39)	F129Y	possibly damaging	Het
Tdrd6	T	A	17: 43,938,697 (GRCm39)	I784F	possibly damaging	Het
Tex55	G	A	16: 38,632,826 (GRCm39)	Q369*	probably null	Het
Tsc22d4	A	G	5: 137,766,273 (GRCm39)	I144V	unknown	Het
Tspan8	T	C	10: 115,669,229 (GRCm39)		probably null	Het
Ttll9	C	T	2: 152,804,407 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,194,587 (GRCm39)	L1160R	unknown	Het
Ufd1	A	G	16: 18,642,035 (GRCm39)	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,641,690 (GRCm39)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,568,295 (GRCm39)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,254 (GRCm39)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,139,476 (GRCm39)	E173G	probably damaging	Het
Zc3h6	T	C	2: 128,857,400 (GRCm39)	S640P	possibly damaging	Het

Other mutations in Rbak

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Rbak	APN	5	143,162,355 (GRCm39)	splice site	probably benign
BB001:Rbak	UTSW	5	143,160,241 (GRCm39)	missense	probably damaging	1.00
R0117:Rbak	UTSW	5	143,159,387 (GRCm39)	nonsense	probably null
R0514:Rbak	UTSW	5	143,159,169 (GRCm39)	missense	probably damaging	0.96
R0945:Rbak	UTSW	5	143,159,334 (GRCm39)	missense	probably damaging	1.00
R1483:Rbak	UTSW	5	143,160,099 (GRCm39)	missense	probably damaging	1.00
R1796:Rbak	UTSW	5	143,159,202 (GRCm39)	missense	probably damaging	1.00
R1916:Rbak	UTSW	5	143,161,871 (GRCm39)	missense	probably damaging	1.00
R1960:Rbak	UTSW	5	143,160,437 (GRCm39)	nonsense	probably null
R2039:Rbak	UTSW	5	143,158,930 (GRCm39)	missense	probably benign	0.37
R2070:Rbak	UTSW	5	143,162,339 (GRCm39)	missense	probably damaging	0.99
R2071:Rbak	UTSW	5	143,162,339 (GRCm39)	missense	probably damaging	0.99
R2151:Rbak	UTSW	5	143,162,257 (GRCm39)	missense	possibly damaging	0.65
R2877:Rbak	UTSW	5	143,159,860 (GRCm39)	missense	probably damaging	1.00
R4030:Rbak	UTSW	5	143,159,724 (GRCm39)	missense	probably damaging	1.00
R4584:Rbak	UTSW	5	143,161,878 (GRCm39)	missense	probably benign	0.00
R4612:Rbak	UTSW	5	143,160,222 (GRCm39)	missense	probably benign	0.01
R5229:Rbak	UTSW	5	143,159,917 (GRCm39)	missense	probably damaging	1.00
R5518:Rbak	UTSW	5	143,159,064 (GRCm39)	missense	probably damaging	1.00
R5541:Rbak	UTSW	5	143,159,745 (GRCm39)	missense	probably damaging	1.00
R5873:Rbak	UTSW	5	143,159,466 (GRCm39)	missense	probably benign	0.32
R5908:Rbak	UTSW	5	143,159,391 (GRCm39)	missense	probably damaging	1.00
R6053:Rbak	UTSW	5	143,160,437 (GRCm39)	nonsense	probably null
R6416:Rbak	UTSW	5	143,162,307 (GRCm39)	missense	possibly damaging	0.67
R6693:Rbak	UTSW	5	143,159,866 (GRCm39)	missense	probably damaging	0.97
R7041:Rbak	UTSW	5	143,159,226 (GRCm39)	missense	probably damaging	1.00
R7057:Rbak	UTSW	5	143,159,682 (GRCm39)	missense	possibly damaging	0.81
R7341:Rbak	UTSW	5	143,161,827 (GRCm39)	missense	probably benign	0.01
R7454:Rbak	UTSW	5	143,159,528 (GRCm39)	nonsense	probably null
R7921:Rbak	UTSW	5	143,160,017 (GRCm39)	missense	probably damaging	0.97
R7924:Rbak	UTSW	5	143,160,241 (GRCm39)	missense	probably damaging	1.00
R8939:Rbak	UTSW	5	143,160,025 (GRCm39)	missense	possibly damaging	0.55
R9533:Rbak	UTSW	5	143,160,172 (GRCm39)	missense	probably damaging	0.96
Z1176:Rbak	UTSW	5	143,162,302 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAGGTGTAACTTCTGACAAAAG -3'
(R):5'- ACCATTTTGGAGAAACCCTTTGC -3'

Sequencing Primer
(F):5'- AAGGTCTTCCCACACTCATTAC -3'
(R):5'- CTTATGAGTGCATGGAAGCCTTAGAC -3'

Posted On

2020-08-01