Mutagenetix > Incidental Mutation

Incidental Mutation 'R8911:Arih2'

678630

Institutional Source

Beutler Lab

Gene Symbol

Arih2

Ensembl Gene

ENSMUSG00000064145

Gene Name

ariadne RBR E3 ubiquitin protein ligase 2

Synonyms

TRIAD1

MMRRC Submission

068764-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108480141-108526585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 108488938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 260 (R260P)

Ref Sequence

ENSEMBL: ENSMUSP00000013338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013338] [ENSMUST00000193190] [ENSMUST00000193197] [ENSMUST00000193552]

AlphaFold

Q9Z1K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000013338
AA Change: R260P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145
AA Change: R260P

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
RING	138	171	1.21e-1	SMART
IBR	207	269	7.29e-23	SMART
ZnF_C2HC	255	271	2.03e0	SMART
IBR	277	339	1.81e-9	SMART
RING	299	339	5.86e-1	SMART
low complexity region	421	432	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193190
AA Change: R260P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145
AA Change: R260P

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
RING	138	171	5.7e-4	SMART
IBR	207	269	2.5e-25	SMART
ZnF_C2HC	255	271	8.4e-3	SMART
Blast:IBR	277	317	2e-17	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000193197
AA Change: R27P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141911
Gene: ENSMUSG00000064145
AA Change: R27P

Domain	Start	End	E-Value	Type
IBR	1	36	1.5e-3	SMART
ZnF_C2HC	22	38	8.4e-3	SMART
Blast:IBR	44	79	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000193552

Predicted Effect

probably benign
Transcript: ENSMUST00000194073

Coding Region Coverage

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

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous inactivation of this gene causes altered dendritic cell physiology, enhanced liver apoptosis, and complete fetal lethality that is partially modified by genetic background. On a mixed genetic background, mice that survive past weaning succumb to a severe multiorgan inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
3425401B19Rik	A	T	14: 32,383,626 (GRCm39)	C780S	possibly damaging	Het
Abca12	T	C	1: 71,380,690 (GRCm39)	D306G	probably benign	Het
Adgrl2	T	C	3: 148,558,163 (GRCm39)		probably benign	Het
Agt	T	C	8: 125,291,184 (GRCm39)	Y41C	probably benign	Het
Alx3	G	T	3: 107,511,603 (GRCm39)	R204L	probably damaging	Het
Bcl11a	C	T	11: 24,114,763 (GRCm39)	P702L	probably damaging	Het
Bpifa2	A	G	2: 153,851,090 (GRCm39)	N17S	probably benign	Het
Cabcoco1	T	C	10: 68,377,584 (GRCm39)	D35G	probably benign	Het
Cd69	T	C	6: 129,252,187 (GRCm39)	K21R	probably benign	Het
Cdhr18	T	C	14: 13,823,796 (GRCm38)		probably null	Het
Cntn4	T	C	6: 106,330,743 (GRCm39)		probably null	Het
Cntnap5c	A	C	17: 58,506,043 (GRCm39)	N689T	probably damaging	Het
Cog5	A	G	12: 31,883,238 (GRCm39)	Y389C	probably damaging	Het
Col5a1	T	C	2: 27,887,630 (GRCm39)		probably null	Het
Coro1b	G	A	19: 4,200,803 (GRCm39)	R245Q	probably damaging	Het
Csmd1	T	C	8: 16,748,019 (GRCm39)	D244G	probably damaging	Het
Ctcfl	C	T	2: 172,937,121 (GRCm39)		probably null	Het
Dpy19l4	G	A	4: 11,317,078 (GRCm39)	P40L	possibly damaging	Het
Dsg4	C	A	18: 20,584,929 (GRCm39)	Y214*	probably null	Het
Eapp	A	T	12: 54,739,440 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,748,114 (GRCm39)	T317A	possibly damaging	Het
Gm11595	A	G	11: 99,663,564 (GRCm39)	C39R	unknown	Het
Golim4	T	C	3: 75,813,703 (GRCm39)		probably benign	Het
Greb1	G	A	12: 16,740,903 (GRCm39)	S1393L	possibly damaging	Het
Guca1b	A	G	17: 47,700,044 (GRCm39)	I73V	probably benign	Het
Hdac7	C	T	15: 97,694,789 (GRCm39)	V796I	possibly damaging	Het
Hectd1	A	G	12: 51,795,616 (GRCm39)	I2271T	probably damaging	Het
Heg1	T	G	16: 33,558,627 (GRCm39)	Y1066*	probably null	Het
Helz2	C	A	2: 180,880,173 (GRCm39)	K514N		Het
Ice1	C	T	13: 70,740,787 (GRCm39)	R70Q		Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itgae	A	G	11: 73,004,447 (GRCm39)	T245A	probably damaging	Het
Jhy	G	A	9: 40,822,453 (GRCm39)	Q562*	probably null	Het
Khnyn	A	G	14: 56,124,735 (GRCm39)	R330G	probably benign	Het
Lamc2	A	T	1: 153,027,873 (GRCm39)	C184S	probably damaging	Het
Lhx5	T	A	5: 120,574,509 (GRCm39)	L271*	probably null	Het
Magel2	G	A	7: 62,029,537 (GRCm39)	V814M	unknown	Het
Manf	A	G	9: 106,767,461 (GRCm39)	I85T	possibly damaging	Het
Mgmt	A	G	7: 136,729,794 (GRCm39)	T203A	probably benign	Het
Mmp9	C	T	2: 164,794,568 (GRCm39)	S520F	possibly damaging	Het
Myrip	A	G	9: 120,270,484 (GRCm39)	E578G	possibly damaging	Het
Naaladl2	A	G	3: 23,900,757 (GRCm39)	M691T	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c112	T	C	2: 88,854,294 (GRCm39)	N18D	probably benign	Het
Or4c117	T	C	2: 88,955,608 (GRCm39)	I156V	probably benign	Het
Pcdhga12	A	T	18: 37,900,118 (GRCm39)	M317L	possibly damaging	Het
Pcnt	T	G	10: 76,223,359 (GRCm39)	K1941T	probably damaging	Het
Pde4dip	A	T	3: 97,650,917 (GRCm39)	M896K	probably benign	Het
Pfkfb3	A	T	2: 11,487,254 (GRCm39)		probably null	Het
Pik3cb	A	G	9: 98,946,201 (GRCm39)	S542P	probably benign	Het
Pik3cg	A	G	12: 32,247,257 (GRCm39)	V822A	probably benign	Het
Plcl2	G	T	17: 50,915,141 (GRCm39)	G717C	probably damaging	Het
Ptprs	C	T	17: 56,730,320 (GRCm39)	A1185T	probably benign	Het
Ptpru	T	A	4: 131,503,560 (GRCm39)	I1157F	probably damaging	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,812 (GRCm39)	E270G	probably damaging	Het
Rrp15	C	T	1: 186,453,641 (GRCm39)	E269K	unknown	Het
Sec23b	T	C	2: 144,401,316 (GRCm39)	V59A	probably benign	Het
Slc22a21	A	T	11: 53,846,809 (GRCm39)		probably null	Het
Sp5	C	A	2: 70,306,962 (GRCm39)	P216T	probably benign	Het
Synj1	A	T	16: 90,775,622 (GRCm39)	D385E	probably damaging	Het
Trim37	C	T	11: 87,097,629 (GRCm39)	S808F	possibly damaging	Het
Tsks	A	T	7: 44,592,694 (GRCm39)		probably benign	Het
Upf1	A	T	8: 70,791,087 (GRCm39)	S563T	possibly damaging	Het
Upf2	A	G	2: 5,987,893 (GRCm39)	D580G	unknown	Het
Usp14	A	G	18: 9,996,194 (GRCm39)	I462T	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r184	C	G	7: 25,966,310 (GRCm39)	Q19E	possibly damaging	Het
Vps50	C	A	6: 3,516,710 (GRCm39)	A64E	probably benign	Het
Zc3h11a	T	A	1: 133,566,339 (GRCm39)	N211I	probably damaging	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp729a	A	T	13: 67,768,061 (GRCm39)	S723T	probably benign	Het
Zmynd12	A	T	4: 119,294,286 (GRCm39)	I88F	probably damaging	Het

Other mutations in Arih2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Arih2	APN	9	108,482,609 (GRCm39)	missense	probably damaging	1.00
IGL03213:Arih2	APN	9	108,484,546 (GRCm39)	missense	probably damaging	1.00
R0009:Arih2	UTSW	9	108,488,926 (GRCm39)	missense	probably damaging	1.00
R0009:Arih2	UTSW	9	108,488,926 (GRCm39)	missense	probably damaging	1.00
R0314:Arih2	UTSW	9	108,485,878 (GRCm39)	missense	probably damaging	1.00
R0413:Arih2	UTSW	9	108,493,916 (GRCm39)	missense	probably damaging	0.98
R0450:Arih2	UTSW	9	108,482,291 (GRCm39)	missense	possibly damaging	0.57
R0469:Arih2	UTSW	9	108,482,291 (GRCm39)	missense	possibly damaging	0.57
R0865:Arih2	UTSW	9	108,526,499 (GRCm39)	utr 5 prime	probably benign
R2099:Arih2	UTSW	9	108,493,937 (GRCm39)	missense	probably damaging	1.00
R2913:Arih2	UTSW	9	108,521,275 (GRCm39)	missense	probably damaging	1.00
R4383:Arih2	UTSW	9	108,521,476 (GRCm39)	start codon destroyed	probably benign	0.41
R4636:Arih2	UTSW	9	108,491,013 (GRCm39)	missense	probably damaging	1.00
R5033:Arih2	UTSW	9	108,488,859 (GRCm39)	unclassified	probably benign
R5562:Arih2	UTSW	9	108,484,546 (GRCm39)	missense	probably damaging	1.00
R5976:Arih2	UTSW	9	108,485,172 (GRCm39)	makesense	probably null
R6248:Arih2	UTSW	9	108,488,841 (GRCm39)	missense	probably damaging	0.97
R8312:Arih2	UTSW	9	108,521,473 (GRCm39)	missense	probably damaging	0.99
R8349:Arih2	UTSW	9	108,488,872 (GRCm39)	missense	possibly damaging	0.86
R8449:Arih2	UTSW	9	108,488,872 (GRCm39)	missense	possibly damaging	0.86
R8883:Arih2	UTSW	9	108,486,992 (GRCm39)	missense	probably damaging	1.00
R8912:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R8914:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9091:Arih2	UTSW	9	108,493,890 (GRCm39)	missense	probably damaging	1.00
R9270:Arih2	UTSW	9	108,493,890 (GRCm39)	missense	probably damaging	1.00
R9348:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9349:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9350:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9409:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9410:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9411:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9415:Arih2	UTSW	9	108,486,986 (GRCm39)	missense	probably damaging	1.00
R9465:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9466:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9478:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9479:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9536:Arih2	UTSW	9	108,488,938 (GRCm39)	missense	probably damaging	0.99
R9776:Arih2	UTSW	9	108,484,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACATGCTCTTCTCAGATG -3'
(R):5'- GAGCATCTCTCCCTCAAGATCAG -3'

Sequencing Primer
(F):5'- TCTCAGATGGTTAATCTACAGGGAG -3'
(R):5'- TCAAGATCAGGAAGCACTCTG -3'

Posted On

2021-08-02