Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Rnf31'

89789

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 #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

55591708-55603693 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55602623 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 968 (Q968K)

Ref Sequence

ENSEMBL: ENSMUSP00000019443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019443] [ENSMUST00000130697] [ENSMUST00000134863] [ENSMUST00000137296] [ENSMUST00000138037]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019443
AA Change: Q968K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: Q968K

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

noncoding transcript
Transcript: ENSMUST00000126269

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: ENSMUST00000136109

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

probably benign
Transcript: ENSMUST00000138037

SMART Domains

Protein: ENSMUSP00000119477
Gene: ENSMUSG00000002325

Domain	Start	End	E-Value	Type
IRF	23	135	1.19e-53	SMART
low complexity region	176	200	N/A	INTRINSIC
low complexity region	203	212	N/A	INTRINSIC
IRF-3	229	395	1.13e-59	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000140178
AA Change: Q813K

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: Q813K

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: ENSMUST00000145680

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	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
IGL02118:Rnf31	APN	14	55599112	missense	probably damaging	1.00
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

Posted On

2013-12-03