Mutagenetix > Incidental Mutation

Incidental Mutation 'R9782:Rbck1'

734097

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9782 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

152158254-152174573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152165113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 297 (E297G)

Ref Sequence

ENSEMBL: ENSMUSP00000028964 (fasta)

Gene Model

predicted gene model for transcript(s): [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 damaging
Transcript: ENSMUST00000028964
AA Change: E297G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
AA Change: E297G

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: E297G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
AA Change: E297G

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

SMART Domains

Protein: ENSMUSP00000118592
Gene: ENSMUSG00000027466
AA Change: E79G

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,053,796 (GRCm39)	M1K	probably null	Het
Atoh8	A	T	6: 72,200,848 (GRCm39)	L281M	possibly damaging	Het
Bckdha	A	G	7: 25,340,880 (GRCm39)		probably null	Het
Chil6	A	T	3: 106,296,121 (GRCm39)	Y371*	probably null	Het
Cilk1	A	T	9: 78,048,520 (GRCm39)	Q108L	probably damaging	Het
Fbxw18	G	T	9: 109,522,376 (GRCm39)	H164Q	probably benign	Het
Gucd1	T	G	10: 75,345,650 (GRCm39)	D135A	probably benign	Het
Hacd1	A	G	2: 14,040,751 (GRCm39)	I168T	possibly damaging	Het
Hfm1	T	C	5: 107,021,896 (GRCm39)	E1013G	probably benign	Het
Hsf4	G	A	8: 105,999,217 (GRCm39)		probably null	Het
Ift140	G	T	17: 25,264,151 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Imp4	T	A	1: 34,482,901 (GRCm39)	L164Q	probably damaging	Het
Jazf1	C	T	6: 52,747,311 (GRCm39)	V204I	probably benign	Het
Kmt2d	T	A	15: 98,764,597 (GRCm39)	D2V	probably damaging	Het
Knl1	T	C	2: 118,899,910 (GRCm39)	V537A	probably benign	Het
Mep1b	A	T	18: 21,208,720 (GRCm39)	D32V	possibly damaging	Het
Mki67	A	G	7: 135,306,066 (GRCm39)		probably null	Het
Morn3	C	T	5: 123,175,822 (GRCm39)	V189M	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Mtmr2	T	C	9: 13,713,293 (GRCm39)	M490T	probably benign	Het
Muc16	T	C	9: 18,548,066 (GRCm39)	T6076A	possibly damaging	Het
Myo1c	A	G	11: 75,549,273 (GRCm39)	E113G	probably damaging	Het
Nat8f4	A	T	6: 85,878,052 (GRCm39)	V157D	probably damaging	Het
Nectin4	T	C	1: 171,214,192 (GRCm39)	V449A	probably damaging	Het
Ogdhl	C	T	14: 32,061,909 (GRCm39)	T528M	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	G	A	2: 88,356,835 (GRCm39)	V303M	probably benign	Het
Or52l1	A	G	7: 104,830,067 (GRCm39)	V166A	probably damaging	Het
Pcdhb12	AT	A	18: 37,570,393 (GRCm39)		probably null	Het
Pigo	T	C	4: 43,023,475 (GRCm39)	D233G	probably damaging	Het
Pkn2	A	C	3: 142,516,237 (GRCm39)	V562G	possibly damaging	Het
Plxna1	C	A	6: 89,333,817 (GRCm39)	A271S	probably benign	Het
Ppp1r3a	C	T	6: 14,718,766 (GRCm39)	S716N	probably damaging	Het
Prss12	G	A	3: 123,271,762 (GRCm39)	G256S	probably benign	Het
Psg28	A	T	7: 18,164,331 (GRCm39)	M127K	probably benign	Het
Psmf1	T	C	2: 151,577,533 (GRCm39)	D48G	possibly damaging	Het
Rabggta	T	A	14: 55,955,944 (GRCm39)	M438L	possibly damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rras	A	T	7: 44,669,945 (GRCm39)	I126F	probably damaging	Het
Slc22a28	T	C	19: 8,041,813 (GRCm39)	R465G	probably null	Het
Slc28a2b	T	A	2: 122,352,338 (GRCm39)	I365N	probably damaging	Het
Snx19	A	G	9: 30,340,172 (GRCm39)	T437A	probably benign	Het
Son	A	T	16: 91,444,838 (GRCm39)	S15C	probably damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Sptbn4	G	T	7: 27,107,993 (GRCm39)	Q810K	probably benign	Het
Tmtc2	T	C	10: 105,026,062 (GRCm39)	Y802C	probably damaging	Het
Trrap	T	A	5: 144,758,716 (GRCm39)	M2181K	probably damaging	Het
Ttc23l	A	G	15: 10,530,767 (GRCm39)	S282P	probably damaging	Het
Zbtb7a	G	A	10: 80,979,910 (GRCm39)	D35N	probably damaging	Het
Zc3h3	C	A	15: 75,681,489 (GRCm39)	V531L	probably damaging	Het
Zfhx4	A	G	3: 5,466,514 (GRCm39)	D2249G	probably benign	Het
Zfp87	T	C	13: 74,520,932 (GRCm39)	K49E	probably benign	Het
Zfp942	T	C	17: 22,147,463 (GRCm39)	T389A	probably benign	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
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
Z1177:Rbck1	UTSW	2	152,166,218 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGCTTGGATTCTCTGAGCCTAG -3'
(R):5'- CTTATCTGACCAACTGAGACCC -3'

Sequencing Primer
(F):5'- GGCTGGCTTGAACTCACTATACAG -3'
(R):5'- ACTGAGACCCTGACCCTCCTG -3'

Posted On

2022-11-14