Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Rbak'

484228

Institutional Source

Beutler Lab

Gene Symbol

Rbak

Ensembl Gene

ENSMUSG00000061898

Gene Name

RB-associated KRAB zinc finger

Synonyms

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

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

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143157941-143166530 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C 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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Mug1	A	G	6: 121,842,697 (GRCm39)	D561G	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	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
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'- CTAATGAAAGCAGAGTTTAGATTGAAG -3'
(R):5'- CTGATTAGCAGTGACGGAAGC -3'

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

Posted On

2017-07-14