Mutagenetix > Incidental Mutation

Incidental Mutation 'R8912:Arih2'

678694

Institutional Source

Beutler Lab

Gene Symbol

Arih2

Ensembl Gene

ENSMUSG00000064145

Gene Name

ariadne RBR E3 ubiquitin protein ligase 2

Synonyms

TRIAD1

MMRRC Submission

068765-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8912 (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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	C	T	5: 113,861,767 (GRCm39)	W34*	probably null	Het
Adck5	T	C	15: 76,477,435 (GRCm39)	S90P	probably damaging	Het
Adgra3	C	A	5: 50,118,273 (GRCm39)	A1092S	possibly damaging	Het
Arhgap33	A	T	7: 30,232,467 (GRCm39)		probably benign	Het
Atp6ap1l	T	A	13: 91,046,979 (GRCm39)		probably null	Het
Brd2	A	T	17: 34,332,458 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,260,097 (GRCm39)		probably benign	Het
Ciao1	A	G	2: 127,088,599 (GRCm39)	V108A	possibly damaging	Het
Clba1	T	C	12: 112,779,323 (GRCm39)	V320A	possibly damaging	Het
Dnah3	T	A	7: 119,689,869 (GRCm39)	H22L	probably benign	Het
Dnajc6	A	G	4: 101,468,513 (GRCm39)	Y251C	probably damaging	Het
Dsg2	T	A	18: 20,715,878 (GRCm39)	N273K	probably damaging	Het
Egf	A	G	3: 129,531,164 (GRCm39)	V137A	possibly damaging	Het
Ercc6	C	T	14: 32,248,211 (GRCm39)	P254L	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fbln2	A	G	6: 91,240,420 (GRCm39)	E789G	possibly damaging	Het
Fbxl13	T	G	5: 21,727,184 (GRCm39)	D571A	probably damaging	Het
Fbxw26	T	A	9: 109,561,717 (GRCm39)	E159V	probably damaging	Het
Fndc1	T	C	17: 8,019,778 (GRCm39)	I134V	probably null	Het
Fsip2	A	G	2: 82,810,938 (GRCm39)	D2419G	probably benign	Het
Gm3371	T	C	14: 44,641,238 (GRCm39)	K109E		Het
Gm5414	A	G	15: 101,536,620 (GRCm39)	S2P	possibly damaging	Het
Igkv1-110	G	T	6: 68,247,950 (GRCm39)	D20Y	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ippk	A	G	13: 49,603,513 (GRCm39)	D422G	probably damaging	Het
Irs2	A	T	8: 11,056,655 (GRCm39)	D592E	probably damaging	Het
Klra9	A	G	6: 130,159,368 (GRCm39)	I215T	probably damaging	Het
Lrrc8b	T	A	5: 105,629,424 (GRCm39)	L590Q	probably damaging	Het
Myh10	A	G	11: 68,680,929 (GRCm39)		probably null	Het
Neto1	A	G	18: 86,479,173 (GRCm39)	D159G	probably damaging	Het
Nr1d2	T	C	14: 18,220,030 (GRCm38)	K104E	probably damaging	Het
Nrcam	T	C	12: 44,645,366 (GRCm39)	V1256A	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Or13e8	T	A	4: 43,697,017 (GRCm39)	D52V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Or9m1b	C	T	2: 87,836,661 (GRCm39)	A145T	possibly damaging	Het
Patj	A	G	4: 98,385,565 (GRCm39)	H444R		Het
Pclo	T	C	5: 14,825,335 (GRCm39)	L1356P		Het
Pde4dip	A	G	3: 97,617,633 (GRCm39)	S1732P	probably damaging	Het
Pi4ka	A	T	16: 17,207,230 (GRCm39)	I25N		Het
Pira13	A	T	7: 3,825,818 (GRCm39)	D350E	unknown	Het
Pou2f3	C	A	9: 43,110,336 (GRCm39)	V30L	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Reck	T	A	4: 43,938,802 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,475,323 (GRCm39)		probably benign	Het
Serinc1	A	C	10: 57,400,075 (GRCm39)	S191A	probably benign	Het
Sgo2a	T	C	1: 58,056,560 (GRCm39)	S915P	probably damaging	Het
Sgsh	T	C	11: 119,243,486 (GRCm39)	T79A	probably damaging	Het
Sik1	A	G	17: 32,069,919 (GRCm39)	V207A	possibly damaging	Het
Skap1	A	T	11: 96,644,902 (GRCm39)	I338F	probably damaging	Het
Skic3	T	A	13: 76,305,361 (GRCm39)		probably benign	Het
Sowahc	G	T	10: 59,057,813 (GRCm39)		probably benign	Het
Spata31d1d	T	C	13: 59,875,136 (GRCm39)	K800E	possibly damaging	Het
Spin1	T	A	13: 51,298,433 (GRCm39)	W151R	probably damaging	Het
Srfbp1	A	G	18: 52,623,686 (GRCm39)	T438A	possibly damaging	Het
Srrm2	A	G	17: 24,038,575 (GRCm39)	T1740A	probably benign	Het
Tacr1	A	T	6: 82,534,014 (GRCm39)	S347C	probably damaging	Het
Taf1b	T	C	12: 24,566,860 (GRCm39)	S185P	possibly damaging	Het
Tanc2	C	T	11: 105,758,153 (GRCm39)	T638I	probably benign	Het
Tdrkh	T	C	3: 94,336,478 (GRCm39)	Y472H	probably damaging	Het
Trav4-2	C	G	14: 53,656,266 (GRCm39)	Y89*	probably null	Het
Trpm1	G	T	7: 63,918,628 (GRCm39)	R1540L	probably benign	Het
Ttc21a	T	C	9: 119,770,367 (GRCm39)		probably null	Het
Tti1	A	G	2: 157,851,188 (GRCm39)	V17A	probably benign	Het
Vamp8	A	G	6: 72,365,276 (GRCm39)	L44P	probably benign	Het
Vmn1r63	G	T	7: 5,806,131 (GRCm39)	S167Y	probably damaging	Het
Xrn2	T	C	2: 146,891,913 (GRCm39)	V710A	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfyve28	T	C	5: 34,374,655 (GRCm39)	D453G	probably benign	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
R8911: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'- AGCATCTCTCCCTCAAGATCAG -3'

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

Posted On

2021-08-02