Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Rbak'

318025

Institutional Source

Beutler Lab

Gene Symbol

Rbak

Ensembl Gene

ENSMUSG00000061898

Gene Name

RB-associated KRAB zinc finger

Synonyms

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

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

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143157941-143166530 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 143160437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 205 (Y205*)

Ref Sequence

ENSEMBL: ENSMUSP00000128731 (fasta)

Gene Model

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

AlphaFold

Q8BQC8

Predicted Effect

probably null
Transcript: ENSMUST00000049861
AA Change: Y205*

SMART Domains

Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: Y205*

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 null
Transcript: ENSMUST00000165318
AA Change: Y205*

SMART Domains

Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: Y205*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199880

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Camkk2	G	A	5: 122,875,575 (GRCm39)	R492*	probably null	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	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
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
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'- TGAAAGCAGAGTTTAGATTGAAGGT -3'
(R):5'- TGATTAGCAGTGACGGAAGC -3'

Sequencing Primer
(F):5'- AAGTGCGATCTCCGATGTAC -3'
(R):5'- AGCTATGCACTGGAGAAGCCC -3'

Posted On

2015-05-19