Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Rbck1'

175927

Institutional Source

Beutler Lab

Gene Symbol

Rbck1

Ensembl Gene

ENSMUSG00000027466

Gene Name

RanBP-type and C3HC4-type zinc finger containing 1

Synonyms

Ubce7ip3, HOIL-1L, HOIL-1

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152158254-152174573 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 152165090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028964] [ENSMUST00000109847]

AlphaFold

Q9WUB0

Predicted Effect

probably null
Transcript: ENSMUST00000028964

SMART Domains

Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466

Domain	Start	End	E-Value	Type
PDB:4DBG\|A	37	137	2e-60	PDB
Blast:UBQ	59	133	2e-15	BLAST
low complexity region	143	152	N/A	INTRINSIC
ZnF_RBZ	193	217	5.25e-5	SMART
low complexity region	232	256	N/A	INTRINSIC
RING	280	324	2.67e-5	SMART
Pfam:IBR	346	409	1.5e-9	PFAM
Pfam:IBR	422	483	2.5e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109847

SMART Domains

Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466

Domain	Start	End	E-Value	Type
PDB:4DBG\|A	37	137	2e-60	PDB
Blast:UBQ	59	133	2e-15	BLAST
low complexity region	143	152	N/A	INTRINSIC
ZnF_RBZ	193	217	5.25e-5	SMART
low complexity region	232	256	N/A	INTRINSIC
RING	280	324	2.67e-5	SMART
Blast:IBR	427	507	1e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131889

Predicted Effect

probably null
Transcript: ENSMUST00000144865

SMART Domains

Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466

Domain	Start	End	E-Value	Type
coiled coil region	13	41	N/A	INTRINSIC
RING	63	107	2.67e-5	SMART
low complexity region	142	153	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000144865

SMART Domains

Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466

Domain	Start	End	E-Value	Type
coiled coil region	13	41	N/A	INTRINSIC
RING	63	107	2.67e-5	SMART
low complexity region	142	153	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145889

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to mouse UIP28/UbcM4 interacting protein. Alternative splicing has been observed at this locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased TNF-induced hepatocyte apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,254,838 (GRCm39)	Q328*	probably null	Het
Aadacl4fm4	T	A	4: 144,396,994 (GRCm39)	K246I	possibly damaging	Het
Adamts1	G	A	16: 85,595,399 (GRCm39)	Q260*	probably null	Het
Add2	A	T	6: 86,075,628 (GRCm39)	Y259F	probably benign	Het
Bora	T	C	14: 99,305,840 (GRCm39)	V403A	probably benign	Het
Ccnl1	G	A	3: 65,854,191 (GRCm39)	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,708,961 (GRCm39)		probably null	Het
Cdr2l	T	C	11: 115,284,203 (GRCm39)	S180P	probably damaging	Het
Cep290	T	A	10: 100,385,191 (GRCm39)	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,869,453 (GRCm39)	V208A	probably damaging	Het
Col2a1	T	C	15: 97,877,131 (GRCm39)	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,300,864 (GRCm39)	N154K	possibly damaging	Het
Cubn	T	A	2: 13,474,600 (GRCm39)	R401S	probably benign	Het
Cul7	A	T	17: 46,974,017 (GRCm39)	Q1434L	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dars1	G	T	1: 128,301,709 (GRCm39)	D308E	probably benign	Het
Dna2	T	A	10: 62,797,436 (GRCm39)	F604I	probably damaging	Het
Dnah1	T	G	14: 31,023,219 (GRCm39)	I1033L	probably benign	Het
Erlin1	T	C	19: 44,036,112 (GRCm39)	E206G	probably damaging	Het
Esrp2	T	A	8: 106,859,905 (GRCm39)	E345D	probably damaging	Het
Foxa1	T	C	12: 57,589,473 (GRCm39)	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,426,426 (GRCm39)	L161M	probably benign	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gpr155	C	A	2: 73,200,434 (GRCm39)	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Hydin	T	A	8: 111,137,306 (GRCm39)	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,341,417 (GRCm39)	V170A	probably damaging	Het
Klhl31	A	T	9: 77,558,298 (GRCm39)	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,620,876 (GRCm39)	A124T	probably benign	Het
Krt72	T	A	15: 101,688,688 (GRCm39)	I331F	probably benign	Het
Lrp1b	T	A	2: 41,401,490 (GRCm39)	D388V	probably damaging	Het
Ly9	A	G	1: 171,424,075 (GRCm39)	V382A	probably benign	Het
Mon2	T	C	10: 122,852,301 (GRCm39)	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,287,818 (GRCm39)	F572L	probably damaging	Het
Myh3	A	T	11: 66,983,997 (GRCm39)	D987V	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nphp4	A	G	4: 152,646,547 (GRCm39)	T1360A	probably benign	Het
Oog4	A	G	4: 143,164,571 (GRCm39)	L320P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5m9	C	T	2: 85,877,657 (GRCm39)	T277I	probably damaging	Het
Or5w8	T	A	2: 87,688,095 (GRCm39)	I192K	probably benign	Het
Pcnx2	T	C	8: 126,498,825 (GRCm39)	N1558S	probably benign	Het
Pde10a	A	G	17: 9,147,976 (GRCm39)	E147G	probably damaging	Het
Pgbd5	T	A	8: 125,101,026 (GRCm39)	H410L	probably benign	Het
Plce1	A	C	19: 38,709,440 (GRCm39)	D1098A	probably damaging	Het
Psg25	G	A	7: 18,265,928 (GRCm39)	Q16*	probably null	Het
Psmd9	T	A	5: 123,379,980 (GRCm39)	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,451,911 (GRCm39)	S937F	probably damaging	Het
Rprd2	C	G	3: 95,726,051 (GRCm39)		probably benign	Het
Rrs1	A	G	1: 9,616,137 (GRCm39)	N130S	probably benign	Het
Scmh1	A	T	4: 120,372,327 (GRCm39)	I377F	possibly damaging	Het
Skor1	G	T	9: 63,053,286 (GRCm39)	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,835,844 (GRCm39)	V335A	probably benign	Het
Slc4a9	G	A	18: 36,661,424 (GRCm39)	W62*	probably null	Het
Styxl2	G	A	1: 165,937,828 (GRCm39)	T77I	probably benign	Het
Taar9	G	T	10: 23,985,305 (GRCm39)	A43D	possibly damaging	Het
Tns4	T	C	11: 98,961,243 (GRCm39)	Y645C	probably damaging	Het
Tpcn2	G	T	7: 144,830,957 (GRCm39)	Y129*	probably null	Het
Trpm3	T	C	19: 22,710,388 (GRCm39)	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,223,156 (GRCm39)	W615R	probably damaging	Het
Ttll5	T	C	12: 85,910,372 (GRCm39)	V207A	probably damaging	Het
Ubr7	G	T	12: 102,736,153 (GRCm39)	M358I	probably damaging	Het
Urb1	C	A	16: 90,574,328 (GRCm39)	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 9,839,432 (GRCm39)	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,672,575 (GRCm39)	I771F	probably benign	Het
Wfdc16	T	C	2: 164,477,350 (GRCm39)	S107G	probably benign	Het
Zmym2	A	G	14: 57,140,226 (GRCm39)	T22A	possibly damaging	Het
Zmym2	G	A	14: 57,151,524 (GRCm39)	G470R	probably damaging	Het

Other mutations in Rbck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Rbck1	APN	2	152,160,315 (GRCm39)	missense	probably damaging	0.98
IGL00765:Rbck1	APN	2	152,172,874 (GRCm39)	splice site	probably benign
IGL01647:Rbck1	APN	2	152,165,152 (GRCm39)	missense	probably damaging	1.00
IGL01945:Rbck1	APN	2	152,160,236 (GRCm39)	missense	probably damaging	1.00
IGL02141:Rbck1	APN	2	152,160,294 (GRCm39)	missense	possibly damaging	0.56
IGL02573:Rbck1	APN	2	152,164,087 (GRCm39)	missense	possibly damaging	0.90
IGL02950:Rbck1	APN	2	152,172,997 (GRCm39)	missense	possibly damaging	0.95
circei	UTSW	2	152,161,145 (GRCm39)	missense	probably damaging	1.00
green_fire	UTSW	2	152,165,094 (GRCm39)	nonsense	probably null
iron_throne	UTSW	2	152,160,371 (GRCm39)	missense	probably benign	0.45
Viserion	UTSW	2	152,172,886 (GRCm39)	missense	possibly damaging	0.87
westeros	UTSW	2	152,160,653 (GRCm39)	nonsense	probably null
A4554:Rbck1	UTSW	2	152,161,092 (GRCm39)	missense	probably damaging	1.00
R0532:Rbck1	UTSW	2	152,166,250 (GRCm39)	missense	probably damaging	0.99
R1426:Rbck1	UTSW	2	152,169,161 (GRCm39)	unclassified	probably benign
R1666:Rbck1	UTSW	2	152,158,819 (GRCm39)	missense	probably damaging	0.99
R1668:Rbck1	UTSW	2	152,158,819 (GRCm39)	missense	probably damaging	0.99
R1889:Rbck1	UTSW	2	152,160,276 (GRCm39)	missense	probably damaging	0.99
R4572:Rbck1	UTSW	2	152,160,653 (GRCm39)	nonsense	probably null
R4592:Rbck1	UTSW	2	152,160,653 (GRCm39)	nonsense	probably null
R5077:Rbck1	UTSW	2	152,160,371 (GRCm39)	missense	probably benign	0.45
R6049:Rbck1	UTSW	2	152,165,094 (GRCm39)	nonsense	probably null
R6494:Rbck1	UTSW	2	152,172,886 (GRCm39)	missense	possibly damaging	0.87
R7530:Rbck1	UTSW	2	152,166,212 (GRCm39)	missense	possibly damaging	0.54
R7878:Rbck1	UTSW	2	152,160,330 (GRCm39)	missense	probably damaging	0.97
R8346:Rbck1	UTSW	2	152,160,700 (GRCm39)	missense	probably damaging	1.00
R8871:Rbck1	UTSW	2	152,164,096 (GRCm39)	missense	possibly damaging	0.92
R9353:Rbck1	UTSW	2	152,161,145 (GRCm39)	missense	probably damaging	1.00
R9782:Rbck1	UTSW	2	152,165,113 (GRCm39)	missense	probably damaging	0.99
Z1177:Rbck1	UTSW	2	152,166,218 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTCTGAGTTCCCTGAAAGCTGTGTG -3'
(R):5'- GCCCTGATTTTCCAGAGTTTGAGCC -3'

Sequencing Primer
(F):5'- tgaactcactatacagccgaag -3'
(R):5'- TTATCTGACCAACTGAGACCCTG -3'

Posted On

2014-04-24