Mutagenetix > Incidental Mutation

Incidental Mutation 'R7041:Rbak'

547048

Institutional Source

Beutler Lab

Gene Symbol

Rbak

Ensembl Gene

ENSMUSG00000061898

Gene Name

RB-associated KRAB zinc finger

Synonyms

MMRRC Submission

045140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R7041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143157941-143166530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143159226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 609 (I609N)

Ref Sequence

ENSEMBL: ENSMUSP00000128731 (fasta)

Gene Model

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

AlphaFold

Q8BQC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049861
AA Change: I609N

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

SMART Domains

Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: I609N

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: I609N

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

SMART Domains

Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: I609N

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (53/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	T	7: 78,748,096 (GRCm39)	E956*	probably null	Het
Adam25	A	T	8: 41,207,121 (GRCm39)	H129L	probably benign	Het
Adgrl4	A	T	3: 151,144,959 (GRCm39)	H36L	probably benign	Het
Ago1	T	A	4: 126,357,499 (GRCm39)	I59F	possibly damaging	Het
Anapc1	A	T	2: 128,470,576 (GRCm39)	V1518E	possibly damaging	Het
Atxn1	A	G	13: 45,720,311 (GRCm39)	I528T	probably damaging	Het
B4galnt4	A	G	7: 140,650,593 (GRCm39)	H820R	probably damaging	Het
Cacna1h	T	C	17: 25,612,977 (GRCm39)	E282G	probably damaging	Het
Camk1	T	A	6: 113,316,475 (GRCm39)	M95L	probably benign	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cav1	A	G	6: 17,339,143 (GRCm39)	E45G	possibly damaging	Het
Ccdc183	T	G	2: 25,503,682 (GRCm39)	E185A	probably benign	Het
Ccl2	T	A	11: 81,926,489 (GRCm39)	M1K	probably null	Het
Cep97	T	A	16: 55,726,117 (GRCm39)	H590L	probably benign	Het
Dsg1c	A	T	18: 20,399,201 (GRCm39)	I102F	probably damaging	Het
Fcho2	A	G	13: 98,921,334 (GRCm39)	Y184H	possibly damaging	Het
Gart	C	T	16: 91,440,031 (GRCm39)		probably benign	Het
Gask1a	A	T	9: 121,794,467 (GRCm39)	Q207L	probably damaging	Het
Golga3	G	A	5: 110,356,450 (GRCm39)		probably null	Het
Hint3	G	T	10: 30,486,380 (GRCm39)	A133E	probably damaging	Het
Hspe1	T	C	1: 55,128,376 (GRCm39)		probably null	Het
Insr	A	T	8: 3,308,418 (GRCm39)	V206E	probably benign	Het
Insrr	T	C	3: 87,722,551 (GRCm39)	S1258P	probably damaging	Het
Itga11	C	T	9: 62,659,538 (GRCm39)	T430M	probably damaging	Het
Jmjd1c	G	A	10: 67,056,388 (GRCm39)	V890I	possibly damaging	Het
Kdm4b	T	A	17: 56,703,592 (GRCm39)	S717R	probably damaging	Het
Large1	A	T	8: 73,843,092 (GRCm39)	C144S	probably damaging	Het
Lrat	G	T	3: 82,810,755 (GRCm39)	Q89K	probably benign	Het
Lrrc66	A	T	5: 73,765,899 (GRCm39)	F381L	possibly damaging	Het
Myo15a	A	G	11: 60,396,832 (GRCm39)	T2634A	probably damaging	Het
Nup205	T	G	6: 35,201,470 (GRCm39)	I1182M	possibly damaging	Het
Or2a51	T	A	6: 43,178,837 (GRCm39)	D86E	probably benign	Het
Or5m10	A	T	2: 85,717,965 (GRCm39)	I274F	probably benign	Het
Or6c66	T	A	10: 129,461,603 (GRCm39)	E109V	probably damaging	Het
Plekha6	T	A	1: 133,200,198 (GRCm39)	V259D	possibly damaging	Het
Prdm9	C	A	17: 15,765,257 (GRCm39)	A508S	possibly damaging	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Ptprc	T	C	1: 138,054,047 (GRCm39)	S31G	probably benign	Het
Rimklb	A	T	6: 122,436,176 (GRCm39)	L134*	probably null	Het
Ripor2	A	G	13: 24,877,749 (GRCm39)	I250V	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spaca6	C	T	17: 18,056,358 (GRCm39)	L118F	probably benign	Het
Tmem167	G	A	13: 90,246,533 (GRCm39)	C19Y	probably benign	Het
Togaram1	C	T	12: 65,067,160 (GRCm39)	T1684I	possibly damaging	Het
Trappc8	T	C	18: 21,007,729 (GRCm39)	T129A	probably benign	Het
Ubash3a	A	G	17: 31,447,184 (GRCm39)	S347G	probably benign	Het
Unc80	T	C	1: 66,542,752 (GRCm39)	S289P	probably benign	Het
Vmn2r11	A	G	5: 109,202,816 (GRCm39)	I87T	probably damaging	Het
Vmn2r54	A	T	7: 12,363,751 (GRCm39)	F381I	probably damaging	Het
Wdsub1	A	G	2: 59,683,224 (GRCm39)	L450P	probably damaging	Het
Xylt2	A	G	11: 94,558,408 (GRCm39)		probably null	Het
Zfp429	A	T	13: 67,538,830 (GRCm39)	C205S	probably damaging	Het
Zfp60	T	C	7: 27,448,451 (GRCm39)	I373T	probably benign	Het
Zfp738	A	G	13: 67,818,420 (GRCm39)	S524P	probably 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
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
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'- CCTTGGCATGTCAGAGCTTTTC -3'
(R):5'- GTGCACTACAGAGGTCATTCCG -3'

Sequencing Primer
(F):5'- TCCTGAATGAGTCCGGTAATGCAC -3'
(R):5'- TTCCGAAGAGAAGCCCTTCG -3'

Posted On

2019-05-13