Mutagenetix > Incidental Mutation

Incidental Mutation 'R8346:Rbck1'

645216

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

067802-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8346 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152158254-152174573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152160700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 412 (Y412C)

Ref Sequence

ENSEMBL: ENSMUSP00000028964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028963] [ENSMUST00000028964] [ENSMUST00000109847]

AlphaFold

Q9WUB0

PDB Structure

Crystal structure of the mouse HOIL1-L-NZF in complex with linear di-ubiquitin [X-RAY DIFFRACTION]
Crystal structure of the mouse HOIL1-L-NZF in complex with linear di-ubiquitin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028963

SMART Domains

Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465

Domain	Start	End	E-Value	Type
TBC	56	268	6.19e-5	SMART
low complexity region	304	323	N/A	INTRINSIC
transmembrane domain	364	386	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000028964
AA Change: Y412C

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

SMART Domains

Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: Y412C

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 damaging
Transcript: ENSMUST00000109847
AA Change: Y412C

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

SMART Domains

Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: Y412C

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

silent
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	G	14: 59,380,221 (GRCm39)	S26P	probably damaging	Het
Aco1	T	A	4: 40,177,876 (GRCm39)	M299K	probably damaging	Het
Acox1	G	T	11: 116,069,099 (GRCm39)	T382N	possibly damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
App	G	T	16: 84,900,145 (GRCm39)	R102S	unknown	Het
Chd1l	T	C	3: 97,469,959 (GRCm39)	N856D	probably benign	Het
Col11a1	A	G	3: 114,005,818 (GRCm39)	D1650G	unknown	Het
Cx3cl1	T	C	8: 95,507,168 (GRCm39)	V391A	probably damaging	Het
Cyp11b2	T	C	15: 74,723,617 (GRCm39)	Y378C	probably damaging	Het
Cyp26b1	T	C	6: 84,554,150 (GRCm39)	S156G	probably benign	Het
Cyp3a11	C	T	5: 145,795,612 (GRCm39)	M446I	probably damaging	Het
D7Ertd443e	G	A	7: 133,950,485 (GRCm39)	T396I	possibly damaging	Het
Dusp4	C	A	8: 35,275,092 (GRCm39)	N70K	possibly damaging	Het
Dync1h1	G	A	12: 110,632,226 (GRCm39)	A4499T	probably benign	Het
Eno2	T	C	6: 124,740,758 (GRCm39)	D266G	possibly damaging	Het
Eomes	T	C	9: 118,314,036 (GRCm39)	S694P	probably benign	Het
Fmo4	A	G	1: 162,621,792 (GRCm39)	V473A	probably benign	Het
Fmo5	T	A	3: 97,552,962 (GRCm39)	N303K	probably damaging	Het
Garin1b	G	A	6: 29,334,030 (GRCm39)	C296Y	probably damaging	Het
Gdf10	A	G	14: 33,653,802 (GRCm39)	E103G	probably benign	Het
Gjb6	T	C	14: 57,362,259 (GRCm39)	M1V	probably null	Het
Gm17067	A	G	7: 42,358,073 (GRCm39)	L143P	probably damaging	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hmgn3	T	C	9: 82,993,159 (GRCm39)	K50E	probably damaging	Het
Hoxc11	G	A	15: 102,863,186 (GRCm39)	G76S	possibly damaging	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ighv2-2	A	T	12: 113,552,189 (GRCm39)	C16*	probably null	Het
Kidins220	T	G	12: 25,086,533 (GRCm39)	F989C	probably damaging	Het
Krtap28-13	A	G	1: 83,039,086 (GRCm39)	K124E	unknown	Het
Mast4	A	G	13: 102,887,986 (GRCm39)	V1141A	probably damaging	Het
Myb	A	T	10: 21,002,136 (GRCm39)	M735K	probably benign	Het
Myo3a	T	A	2: 22,448,434 (GRCm39)		probably null	Het
Naa60	G	A	16: 3,718,507 (GRCm39)	G113D	probably damaging	Het
Nfatc1	T	C	18: 80,725,382 (GRCm39)	I461V	probably benign	Het
Nphp4	C	A	4: 152,645,778 (GRCm39)	A1262D	probably damaging	Het
Obscn	A	T	11: 58,976,007 (GRCm39)	V2040E	possibly damaging	Het
Or1j4	A	G	2: 36,740,351 (GRCm39)	I98V	probably benign	Het
Or9a2	A	G	6: 41,749,057 (GRCm39)	Y59H	probably damaging	Het
Ormdl1	T	A	1: 53,344,626 (GRCm39)	F63I	possibly damaging	Het
Otulinl	A	G	15: 27,664,644 (GRCm39)	Y76H	probably damaging	Het
Phc1	C	T	6: 122,302,774 (GRCm39)	V250M	probably damaging	Het
Pik3c2b	G	A	1: 133,017,984 (GRCm39)	V949M	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prmt8	T	A	6: 127,688,810 (GRCm39)	M187L	probably damaging	Het
Ptpn3	T	C	4: 57,225,547 (GRCm39)	I513V	probably damaging	Het
Rad17	A	C	13: 100,781,681 (GRCm39)	S39A	possibly damaging	Het
Rfc3	C	A	5: 151,569,100 (GRCm39)	M152I	probably damaging	Het
Scn11a	C	A	9: 119,608,047 (GRCm39)	C1028F	probably damaging	Het
Sfmbt2	C	A	2: 10,466,236 (GRCm39)	P357Q	probably damaging	Het
Slc22a6	C	G	19: 8,599,169 (GRCm39)	R267G	probably damaging	Het
St3gal1	G	A	15: 66,985,511 (GRCm39)	R48C	probably damaging	Het
Stmnd1	A	G	13: 46,452,936 (GRCm39)	N204S	probably benign	Het
Tdrd1	T	C	19: 56,830,699 (GRCm39)	V244A	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r25	T	C	6: 123,802,350 (GRCm39)	T518A	probably benign	Het
Xdh	T	C	17: 74,220,938 (GRCm39)	D597G	probably damaging	Het
Zfp457	G	A	13: 67,441,862 (GRCm39)	Q238*	probably null	Het
Zfp647	T	C	15: 76,795,928 (GRCm39)	D244G	probably damaging	Het
Zfp870	T	A	17: 33,102,843 (GRCm39)	E162V	possibly 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
R1598:Rbck1	UTSW	2	152,165,090 (GRCm39)	critical splice donor site	probably null
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
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'- GAAGTCACACCCTGCAATGG -3'
(R):5'- TATTAGGCTCCTACTGATGGTCCTG -3'

Sequencing Primer
(F):5'- CCTGCAATGGGGGTTTGACC -3'
(R):5'- ACTGATGGTCCTGGCTCC -3'

Posted On

2020-09-02