Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Rnf31'

714495

Institutional Source

Beutler Lab

Gene Symbol

Rnf31

Ensembl Gene

ENSMUSG00000047098

Gene Name

ring finger protein 31

Synonyms

Paul, HOIP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55829199-55841131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55833609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 539 (E539G)

Ref Sequence

ENSEMBL: ENSMUSP00000019443 (fasta)

Gene Model

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

AlphaFold

Q924T7

Predicted Effect

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: E539G

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: ENSMUST00000140178

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789 (GRCm39)	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,166,114 (GRCm39)	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Clec4n	T	C	6: 123,212,532 (GRCm39)	V116A	possibly damaging	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ica1	A	T	6: 8,667,288 (GRCm39)	S293T	probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Mgarp	T	C	3: 51,303,902 (GRCm39)	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tmf1	T	C	6: 97,155,866 (GRCm39)	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		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
R1507:Rnf31	UTSW	14	55,836,439 (GRCm39)	nonsense	probably null
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
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'- CCACTGTTGGTTAGGCTGAG -3'
(R):5'- GCACCTGCATTTCAAAACAGTG -3'

Sequencing Primer
(F):5'- CTGAGAATGAGTAGAGTTCCTTTCC -3'
(R):5'- CAGTGAGTAAATGTAAAGCCAGC -3'

Posted On

2022-06-15