Mutagenetix > Incidental Mutation

Incidental Mutation 'R9756:Rnf31'

732763

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 #

R9756 (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 T at 55836582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 805 (E805D)

Ref Sequence

ENSEMBL: ENSMUSP00000019443 (fasta)

Gene Model

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

AlphaFold

Q924T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019443
AA Change: E805D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019443
Gene: ENSMUSG00000047098
AA Change: E805D

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

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

SMART Domains

Protein: ENSMUSP00000118215
Gene: ENSMUSG00000047098
AA Change: E650D

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

probably benign
Transcript: ENSMUST00000227708

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,906 (GRCm39)	Y94F	possibly damaging	Het
Abcb5	A	G	12: 118,881,873 (GRCm39)	S619P	probably damaging	Het
Adgrf5	A	G	17: 43,761,137 (GRCm39)	N944S	probably benign	Het
Ano1	T	A	7: 144,162,666 (GRCm39)	M689L	probably benign	Het
Antxr1	T	A	6: 87,217,936 (GRCm39)	H314L	probably benign	Het
Atp13a5	CA	C	16: 29,051,583 (GRCm39)		probably null	Het
Blmh	T	A	11: 76,859,509 (GRCm39)	M370K	probably damaging	Het
Cdh8	G	A	8: 99,759,976 (GRCm39)	T591M	probably damaging	Het
Cep290	G	A	10: 100,352,034 (GRCm39)	E747K	probably damaging	Het
Chd6	T	C	2: 160,802,259 (GRCm39)	S2192G	probably benign	Het
Cldn8	T	G	16: 88,359,917 (GRCm39)	T3P	probably benign	Het
Crtac1	A	G	19: 42,286,780 (GRCm39)	L421P	probably damaging	Het
Ddx59	G	T	1: 136,345,069 (GRCm39)	A247S	probably damaging	Het
Defa38	C	T	8: 21,585,943 (GRCm39)	V42I	possibly damaging	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dnhd1	A	T	7: 105,353,135 (GRCm39)	T2763S	probably benign	Het
Evpl	T	C	11: 116,112,077 (GRCm39)	D1871G	probably damaging	Het
Fat1	T	A	8: 45,496,974 (GRCm39)	I4153N	probably damaging	Het
Fbxl17	A	G	17: 63,367,310 (GRCm39)	Y688H	probably damaging	Het
Fntb	A	G	12: 76,966,938 (GRCm39)	E424G	probably benign	Het
Gabra4	A	G	5: 71,729,067 (GRCm39)	M571T	probably damaging	Het
Hoxb5	T	C	11: 96,194,449 (GRCm39)	Y4H	probably damaging	Het
Htr1a	T	C	13: 105,581,450 (GRCm39)	V230A	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-4	T	C	12: 114,217,448 (GRCm39)	T48A	probably damaging	Het
Il15ra	A	G	2: 11,728,259 (GRCm39)	M53V	probably benign	Het
Ipo9	A	C	1: 135,314,057 (GRCm39)	D945E	probably benign	Het
Klk1b22	A	T	7: 43,765,254 (GRCm39)		probably null	Het
Klkb1	T	C	8: 45,735,811 (GRCm39)	N184S	possibly damaging	Het
Lbhd2	G	A	12: 111,376,774 (GRCm39)	A74T	probably damaging	Het
Lpcat3	A	G	6: 124,679,967 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Mbd5	C	A	2: 49,169,283 (GRCm39)	P1485T	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mical2	C	T	7: 111,902,928 (GRCm39)	T133I	probably damaging	Het
Mylk	T	C	16: 34,734,387 (GRCm39)	S663P	probably damaging	Het
Or2ag13	A	T	7: 106,313,002 (GRCm39)	N295K	probably benign	Het
Or2j3	A	G	17: 38,615,971 (GRCm39)	V127A	probably benign	Het
Or4x11	A	T	2: 89,867,674 (GRCm39)	N137I	probably benign	Het
Or5ak22	T	A	2: 85,230,682 (GRCm39)	H65L	probably damaging	Het
Or5b119	G	A	19: 13,456,986 (GRCm39)	T192I	probably benign	Het
Or8b12	G	A	9: 37,658,314 (GRCm39)	D295N	possibly damaging	Het
Patj	G	T	4: 98,565,535 (GRCm39)	A1656S	probably benign	Het
Peg10	GC	GCGCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigz	G	T	16: 31,763,787 (GRCm39)	G282C	probably damaging	Het
Pomk	G	A	8: 26,472,918 (GRCm39)	T345M	possibly damaging	Het
Psap	T	C	10: 60,130,784 (GRCm39)	S205P	possibly damaging	Het
Ptpn6	A	T	6: 124,705,592 (GRCm39)	F186L	probably damaging	Het
Rnase2b	T	C	14: 51,400,302 (GRCm39)	S128P	probably damaging	Het
Rnf112	C	T	11: 61,340,667 (GRCm39)	V536I	probably damaging	Het
Rps6kc1	A	T	1: 190,604,021 (GRCm39)	D200E	probably benign	Het
Rufy2	T	C	10: 62,818,519 (GRCm39)	L25P	probably damaging	Het
Sec14l2	T	A	11: 4,053,978 (GRCm39)	K230*	probably null	Het
Senp1	A	G	15: 97,957,806 (GRCm39)	I364T	possibly damaging	Het
Sod1	T	A	16: 90,017,753 (GRCm39)	M3K	probably benign	Het
Stab2	T	C	10: 86,803,553 (GRCm39)	D332G	possibly damaging	Het
Tcf4	G	T	18: 69,790,830 (GRCm39)	E408*	probably null	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Tmem39a	T	C	16: 38,396,126 (GRCm39)	Y120H	probably benign	Het
Trav16	C	A	14: 53,980,886 (GRCm39)	T25K	possibly damaging	Het
Unc13c	T	A	9: 73,839,526 (GRCm39)	N442Y	probably benign	Het
Vmn2r71	A	T	7: 85,268,573 (GRCm39)	K259*	probably null	Het
Yipf1	T	C	4: 107,176,247 (GRCm39)	V47A	probably benign	Het
Zeb2	T	C	2: 44,887,414 (GRCm39)	T548A	possibly damaging	Het
Zmym4	A	G	4: 126,771,502 (GRCm39)	F1291L	probably damaging	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
R9454:Rnf31	UTSW	14	55,833,609 (GRCm39)	missense
R9526:Rnf31	UTSW	14	55,836,269 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTGTTCCCAGCTCAGAGAG -3'
(R):5'- ACGCTTAAGAGAGCATGACTG -3'

Sequencing Primer
(F):5'- ATGCCCTGTTTCACAAGAAGCTG -3'
(R):5'- AGAGAGCATGACTGTTCTATCTGC -3'

Posted On

2022-11-14