Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Rbak'

455302

Institutional Source

Beutler Lab

Gene Symbol

Rbak

Ensembl Gene

ENSMUSG00000061898

Gene Name

RB-associated KRAB zinc finger

Synonyms

MMRRC Submission

044080-MU

Accession Numbers

Essential gene?

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

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143157941-143166530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143159466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 529 (V529A)

Ref Sequence

ENSEMBL: ENSMUSP00000128731 (fasta)

Gene Model

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

AlphaFold

Q8BQC8

Predicted Effect

probably benign
Transcript: ENSMUST00000049861
AA Change: V529A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: V529A

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 benign
Transcript: ENSMUST00000165318
AA Change: V529A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: V529A

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

noncoding transcript
Transcript: ENSMUST00000166382

SMART Domains

Protein: ENSMUSP00000132239
Gene: ENSMUSG00000061898

Domain	Start	End	E-Value	Type
KRAB	27	87	6.89e-36	SMART
ZnF_C2H2	277	299	1.1e-2	SMART
ZnF_C2H2	305	327	1.4e-4	SMART
ZnF_C2H2	333	355	5.21e-4	SMART
ZnF_C2H2	361	383	1.95e-3	SMART
ZnF_C2H2	389	411	2.3e-5	SMART
ZnF_C2H2	417	439	3.95e-4	SMART
ZnF_C2H2	445	467	5.59e-4	SMART
ZnF_C2H2	473	495	1.12e-3	SMART
ZnF_C2H2	527	547	1.4e1	SMART
ZnF_C2H2	555	577	3.89e-3	SMART
ZnF_C2H2	583	605	1.04e-3	SMART
ZnF_C2H2	611	633	5.42e-2	SMART
ZnF_C2H2	639	661	1.5e-4	SMART
ZnF_C2H2	667	689	9.22e-5	SMART
ZnF_C2H2	695	717	5.21e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167 (GRCm39)		probably null	Het
4930505A04Rik	T	A	11: 30,376,220 (GRCm39)	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,223,975 (GRCm39)		probably benign	Het
Abcc4	G	T	14: 118,763,702 (GRCm39)	D1044E	probably benign	Het
Adgre4	A	G	17: 56,159,282 (GRCm39)	T656A	probably benign	Het
Ankk1	T	C	9: 49,327,196 (GRCm39)	N661S	probably benign	Het
Asah2	A	G	19: 31,981,082 (GRCm39)		probably null	Het
Asxl3	A	G	18: 22,649,142 (GRCm39)	D377G	probably benign	Het
C3ar1	A	G	6: 122,827,381 (GRCm39)	S279P	probably benign	Het
C7	A	G	15: 5,034,717 (GRCm39)	V610A	probably damaging	Het
Cacna2d3	C	A	14: 29,442,891 (GRCm39)	A48S	probably benign	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Casc3	A	G	11: 98,712,270 (GRCm39)	Y103C	unknown	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Col14a1	A	G	15: 55,309,182 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,962,512 (GRCm39)	S110P	probably benign	Het
Cpt1b	T	C	15: 89,304,931 (GRCm39)	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cyp2b23	C	T	7: 26,374,431 (GRCm39)	R271H	probably benign	Het
Dnah17	T	C	11: 117,947,723 (GRCm39)	I3039V	probably benign	Het
Dnpep	T	C	1: 75,291,787 (GRCm39)	D242G	probably damaging	Het
Dock10	T	A	1: 80,551,855 (GRCm39)	N660I	probably damaging	Het
Esco2	T	C	14: 66,061,640 (GRCm39)	D471G	probably benign	Het
Evpl	A	T	11: 116,125,258 (GRCm39)	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,389,850 (GRCm39)	I142F	probably damaging	Het
Fry	C	A	5: 150,302,350 (GRCm39)	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,801,472 (GRCm39)	F92I	probably benign	Het
Galm	A	G	17: 80,445,532 (GRCm39)	E94G	probably benign	Het
Gfy	T	G	7: 44,827,004 (GRCm39)	H364P	probably damaging	Het
Helz2	A	G	2: 180,875,821 (GRCm39)	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,598,527 (GRCm39)	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 62,855,170 (GRCm39)		probably null	Het
Igkv4-90	T	A	6: 68,784,453 (GRCm39)	N21I	probably benign	Het
Kpna1	A	G	16: 35,834,598 (GRCm39)		probably benign	Het
Krt28	A	C	11: 99,257,716 (GRCm39)	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,545,936 (GRCm39)	V578A	probably damaging	Het
Lta4h	T	C	10: 93,305,052 (GRCm39)		probably null	Het
Matk	T	A	10: 81,095,963 (GRCm39)	V166E	probably benign	Het
Muc4	C	A	16: 32,570,113 (GRCm39)	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,755,890 (GRCm39)	T220S	possibly damaging	Het
Nrp1	T	C	8: 129,194,858 (GRCm39)	V438A	probably damaging	Het
Or2y6	A	T	11: 52,104,180 (GRCm39)	L212Q	probably damaging	Het
Or6p1	T	A	1: 174,258,348 (GRCm39)	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,785,110 (GRCm39)	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,016,388 (GRCm39)	D911V	probably damaging	Het
Pkd1	A	G	17: 24,788,804 (GRCm39)	Q854R	probably benign	Het
Ppl	A	G	16: 4,923,913 (GRCm39)		probably null	Het
Ppp1r26	A	G	2: 28,341,617 (GRCm39)	T416A	probably benign	Het
Prdm15	T	C	16: 97,609,889 (GRCm39)	D585G	probably damaging	Het
Rc3h1	C	T	1: 160,787,071 (GRCm39)	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,763,242 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,901,818 (GRCm39)	N792S	probably benign	Het
Tat	T	C	8: 110,718,581 (GRCm39)		probably null	Het
Tbx21	A	T	11: 97,005,474 (GRCm39)		probably null	Het
Txndc11	A	G	16: 10,893,069 (GRCm39)	L887P	probably damaging	Het
Usp10	A	G	8: 120,673,831 (GRCm39)	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,038,633 (GRCm39)	H736L	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,157,204 (GRCm39)	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,242,020 (GRCm39)	R36*	probably null	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
BB011: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
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'- AGAGAAGAACTTCCCACATTCG -3'
(R):5'- CATTAGGCACTGGAAGGTCC -3'

Sequencing Primer
(F):5'- ATTCGTAACACTCGTACGGC -3'
(R):5'- TCCATGCAGAAGAGAGAGTCC -3'

Posted On

2017-02-10