Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02118:Rnf31'

280454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf31

Ensembl Gene

ENSMUSG00000047098

Gene Name

ring finger protein 31

Synonyms

Paul, HOIP

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

55591708-55603693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55599112 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 801 (I801S)

Ref Sequence

ENSEMBL: ENSMUSP00000019443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000137296]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019443
AA Change: I801S

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

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: I801S

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:PUB	68	148	7.1e-17	PFAM
low complexity region	262	294	N/A	INTRINSIC
ZnF_RBZ	298	322	2.56e-1	SMART
ZnF_RBZ	346	370	6.93e-5	SMART
ZnF_RBZ	405	429	4.86e-1	SMART
Pfam:HOIP-UBA	477	622	2.4e-54	PFAM
Blast:RING	693	741	7e-25	BLAST
IBR	773	835	3.18e-14	SMART
IBR	847	924	5.35e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130697

SMART Domains

Protein: ENSMUSP00000120359
Gene: ENSMUSG00000002325

Domain	Start	End	E-Value	Type
IRF	5	117	1.19e-53	SMART
low complexity region	158	182	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
IRF-3	211	377	1.13e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133903

Predicted Effect

probably benign
Transcript: ENSMUST00000134863

SMART Domains

Protein: ENSMUSP00000120525
Gene: ENSMUSG00000002325

Domain	Start	End	E-Value	Type
low complexity region	34	58	N/A	INTRINSIC
IRF	71	183	1.19e-53	SMART
low complexity region	224	248	N/A	INTRINSIC
low complexity region	251	260	N/A	INTRINSIC
IRF-3	277	443	1.13e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137296

SMART Domains

Protein: ENSMUSP00000122955
Gene: ENSMUSG00000047098

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:PUB	66	151	6.8e-17	PFAM
Blast:RING	214	257	3e-17	BLAST
low complexity region	262	294	N/A	INTRINSIC
ZnF_RBZ	298	322	2.56e-1	SMART
ZnF_RBZ	346	370	6.93e-5	SMART
ZnF_RBZ	404	428	4.86e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000140178
AA Change: I646S

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: I646S

Domain	Start	End	E-Value	Type
PDB:4OYJ\|M	2	85	1e-29	PDB
low complexity region	164	196	N/A	INTRINSIC
ZnF_RBZ	200	224	2.56e-1	SMART
ZnF_RBZ	248	272	6.93e-5	SMART
ZnF_RBZ	307	331	4.86e-1	SMART
Pfam:HOIP-UBA	369	468	1.1e-31	PFAM
Blast:RING	539	587	9e-25	BLAST
IBR	619	681	3.18e-14	SMART
IBR	693	770	5.35e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227664

Predicted Effect

probably benign
Transcript: ENSMUST00000227708

Coding Region Coverage

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 contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice homozygous for a conditional allele activated in B cells exhibit severely impaired B1 B cell development and impaired antibody responses to both T cell-dependent and T cell-independent type 2 antigens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,350,958	K45*	probably null	Het
Acox3	T	C	5: 35,601,521	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,276,547		probably benign	Het
Actr8	T	C	14: 29,982,771		probably null	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790	K243*	probably null	Het
Arfgap1	T	C	2: 180,980,444	F274S	possibly damaging	Het
BC080695	A	T	4: 143,571,156	T49S	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cask	T	C	X: 13,559,395	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,729,116	G150S	probably benign	Het
Cpne1	T	G	2: 156,077,643	D278A	possibly damaging	Het
Gcn1l1	A	G	5: 115,610,879	E1856G	probably damaging	Het
Gm8362	A	T	14: 6,771,516	V159E	probably damaging	Het
Golga5	A	G	12: 102,495,752	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,481,768	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,796,417	K24R	possibly damaging	Het
Morc1	T	C	16: 48,587,104	L661P	probably benign	Het
Per2	G	A	1: 91,424,309	T825I	probably damaging	Het
Prkar2b	A	G	12: 31,975,964	V19A	probably damaging	Het
Psmb8	T	A	17: 34,201,224	D263E	probably damaging	Het
Pum2	T	C	12: 8,729,117	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,623		probably null	Het
Rfx7	A	G	9: 72,617,204	T559A	probably benign	Het
Rom1	G	T	19: 8,929,022	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,132,821	P7T	probably benign	Het
Stpg1	A	G	4: 135,508,064		probably benign	Het
Sugct	A	T	13: 17,452,520	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,360,463	V317M	probably benign	Het
Tcea2	A	G	2: 181,685,835	I125V	probably benign	Het
Ttc39b	T	A	4: 83,297,949	D19V	probably damaging	Het
Tti2	T	A	8: 31,155,509		probably null	Het
Usp32	A	T	11: 85,032,177	Y142*	probably null	Het
Vill	A	G	9: 119,060,398	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zfp398	A	G	6: 47,858,945	D14G	probably damaging	Het
Zfp598	T	C	17: 24,677,617	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,578,104	C43F	probably damaging	Het

Other mutations in Rnf31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rnf31	APN	14	55592319	splice site	probably null
IGL01532:Rnf31	APN	14	55602623	missense	probably damaging	0.99
IGL02272:Rnf31	APN	14	55598782	missense	probably damaging	1.00
IGL02893:Rnf31	APN	14	55599109	missense	probably damaging	1.00
IGL02939:Rnf31	APN	14	55595674	missense	probably benign	0.30
R0285:Rnf31	UTSW	14	55601389	missense	probably damaging	0.96
R0678:Rnf31	UTSW	14	55601713	nonsense	probably null
R0924:Rnf31	UTSW	14	55593002	unclassified	probably benign
R1386:Rnf31	UTSW	14	55596764	missense	probably damaging	1.00
R1507:Rnf31	UTSW	14	55598982	nonsense	probably null
R2122:Rnf31	UTSW	14	55596197	missense	probably damaging	1.00
R2164:Rnf31	UTSW	14	55592537	missense	possibly damaging	0.90
R3714:Rnf31	UTSW	14	55603394	missense	probably damaging	1.00
R3921:Rnf31	UTSW	14	55601142	missense	probably damaging	1.00
R4348:Rnf31	UTSW	14	55601098	frame shift	probably null
R4349:Rnf31	UTSW	14	55601098	frame shift	probably null
R4350:Rnf31	UTSW	14	55601098	frame shift	probably null
R4351:Rnf31	UTSW	14	55601098	frame shift	probably null
R4353:Rnf31	UTSW	14	55601098	frame shift	probably null
R4472:Rnf31	UTSW	14	55603320	missense	probably damaging	1.00
R5004:Rnf31	UTSW	14	55592182	missense	probably damaging	1.00
R5245:Rnf31	UTSW	14	55601706	missense	probably damaging	1.00
R5286:Rnf31	UTSW	14	55592236	missense	probably damaging	1.00
R5669:Rnf31	UTSW	14	55596704	missense	probably damaging	1.00
R5750:Rnf31	UTSW	14	55598686	missense	probably damaging	1.00
R6377:Rnf31	UTSW	14	55595527	missense	probably damaging	1.00
R7009:Rnf31	UTSW	14	55592551	missense	probably benign	0.00
R7018:Rnf31	UTSW	14	55592233	missense	probably damaging	1.00
R7670:Rnf31	UTSW	14	55594361	missense	probably benign	0.08
R7876:Rnf31	UTSW	14	55593077	critical splice donor site	probably null
R8490:Rnf31	UTSW	14	55596109	missense	probably damaging	1.00
R8818:Rnf31	UTSW	14	55594939	missense	probably benign	0.10

Posted On

2015-04-16