Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:Rnf31'

168023

Institutional Source

Beutler Lab

Gene Symbol

Rnf31

Ensembl Gene

ENSMUSG00000047098

Gene Name

ring finger protein 31

Synonyms

Paul, HOIP

MMRRC Submission

039555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55829199-55841131 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 55836439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 634 (K634*)

Gene Model

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

AlphaFold

Q924T7

Predicted Effect

probably null
Transcript: ENSMUST00000019443
AA Change: K789*

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: K789*

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: 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

probably null
Transcript: ENSMUST00000140178
AA Change: K634*

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: K634*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	T	G	2: 154,391,539 (GRCm39)	V102G	probably benign	Het
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cdc14a	G	A	3: 116,087,646 (GRCm39)	T455I	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Plekhh1	A	T	12: 79,126,224 (GRCm39)	T1310S	probably damaging	Het
Potegl	A	G	2: 23,098,086 (GRCm39)	Y88C	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc30a6	G	T	17: 74,715,857 (GRCm39)	V106F	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Yap1	A	T	9: 7,953,141 (GRCm39)		probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	Het

Other mutations in Rnf31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Rnf31	APN	14	55,829,776 (GRCm39)	splice site	probably null
IGL01532:Rnf31	APN	14	55,840,080 (GRCm39)	missense	probably damaging	0.99
IGL02118:Rnf31	APN	14	55,836,569 (GRCm39)	missense	probably damaging	1.00
IGL02272:Rnf31	APN	14	55,836,239 (GRCm39)	missense	probably damaging	1.00
IGL02893:Rnf31	APN	14	55,836,566 (GRCm39)	missense	probably damaging	1.00
IGL02939:Rnf31	APN	14	55,833,131 (GRCm39)	missense	probably benign	0.30
R0285:Rnf31	UTSW	14	55,838,846 (GRCm39)	missense	probably damaging	0.96
R0678:Rnf31	UTSW	14	55,839,170 (GRCm39)	nonsense	probably null
R0924:Rnf31	UTSW	14	55,830,459 (GRCm39)	unclassified	probably benign
R1386:Rnf31	UTSW	14	55,834,221 (GRCm39)	missense	probably damaging	1.00
R2122:Rnf31	UTSW	14	55,833,654 (GRCm39)	missense	probably damaging	1.00
R2164:Rnf31	UTSW	14	55,829,994 (GRCm39)	missense	possibly damaging	0.90
R3714:Rnf31	UTSW	14	55,840,851 (GRCm39)	missense	probably damaging	1.00
R3921:Rnf31	UTSW	14	55,838,599 (GRCm39)	missense	probably damaging	1.00
R4348:Rnf31	UTSW	14	55,838,555 (GRCm39)	frame shift	probably null
R4349:Rnf31	UTSW	14	55,838,555 (GRCm39)	frame shift	probably null
R4350:Rnf31	UTSW	14	55,838,555 (GRCm39)	frame shift	probably null
R4351:Rnf31	UTSW	14	55,838,555 (GRCm39)	frame shift	probably null
R4353:Rnf31	UTSW	14	55,838,555 (GRCm39)	frame shift	probably null
R4472:Rnf31	UTSW	14	55,840,777 (GRCm39)	missense	probably damaging	1.00
R5004:Rnf31	UTSW	14	55,829,639 (GRCm39)	missense	probably damaging	1.00
R5245:Rnf31	UTSW	14	55,839,163 (GRCm39)	missense	probably damaging	1.00
R5286:Rnf31	UTSW	14	55,829,693 (GRCm39)	missense	probably damaging	1.00
R5669:Rnf31	UTSW	14	55,834,161 (GRCm39)	missense	probably damaging	1.00
R5750:Rnf31	UTSW	14	55,836,143 (GRCm39)	missense	probably damaging	1.00
R6377:Rnf31	UTSW	14	55,832,984 (GRCm39)	missense	probably damaging	1.00
R7009:Rnf31	UTSW	14	55,830,008 (GRCm39)	missense	probably benign	0.00
R7018:Rnf31	UTSW	14	55,829,690 (GRCm39)	missense	probably damaging	1.00
R7670:Rnf31	UTSW	14	55,831,818 (GRCm39)	missense	probably benign	0.08
R7876:Rnf31	UTSW	14	55,830,534 (GRCm39)	critical splice donor site	probably null
R8490:Rnf31	UTSW	14	55,833,566 (GRCm39)	missense	probably damaging	1.00
R8818:Rnf31	UTSW	14	55,832,396 (GRCm39)	missense	probably benign	0.10
R8900:Rnf31	UTSW	14	55,833,689 (GRCm39)	missense	probably damaging	1.00
R9246:Rnf31	UTSW	14	55,833,698 (GRCm39)	missense	probably benign	0.01
R9454:Rnf31	UTSW	14	55,833,609 (GRCm39)	missense
R9526:Rnf31	UTSW	14	55,836,269 (GRCm39)	critical splice donor site	probably null
R9756:Rnf31	UTSW	14	55,836,582 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTGAAGGAGAAGCACATCAC -3'
(R):5'- GCTGTTCGCGTTCATAGATGAAGCC -3'

Sequencing Primer
(F):5'- TGATGACGCTCAGTTACTCAG -3'
(R):5'- CGTTCATAGATGAAGCCAAAGG -3'

Posted On

2014-04-13