Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Arih2'

471776

Institutional Source

Beutler Lab

Gene Symbol

Arih2

Ensembl Gene

ENSMUSG00000064145

Gene Name

ariadne RBR E3 ubiquitin protein ligase 2

Synonyms

TRIAD1

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108480141-108526585 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 108485172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 54 (*54R)

Gene Model

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

AlphaFold

Q9Z1K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000013338
AA Change: M397K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013338
Gene: ENSMUSG00000064145
AA Change: M397K

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

noncoding transcript
Transcript: ENSMUST00000192686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192853

Predicted Effect

probably benign
Transcript: ENSMUST00000193190

SMART Domains

Protein: ENSMUSP00000141914
Gene: ENSMUSG00000064145

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 benign
Transcript: ENSMUST00000193197

SMART Domains

Protein: ENSMUSP00000141911
Gene: ENSMUSG00000064145

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

noncoding transcript
Transcript: ENSMUST00000193923

Predicted Effect

probably null
Transcript: ENSMUST00000194073
AA Change: *54R

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,494,855 (GRCm39)		probably null	Het
AW146154	T	G	7: 41,129,721 (GRCm39)	K465T	probably damaging	Het
Bend3	A	G	10: 43,386,540 (GRCm39)	Y311C	probably benign	Het
Bltp2	G	A	11: 78,174,955 (GRCm39)	A1697T	probably benign	Het
Ccdc110	A	T	8: 46,396,536 (GRCm39)	Y809F	possibly damaging	Het
Ccnh	C	T	13: 85,338,982 (GRCm39)	P76L	probably damaging	Het
Chaf1a	T	A	17: 56,371,115 (GRCm39)	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,452,636 (GRCm39)	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,975,410 (GRCm39)	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Dclk2	C	A	3: 86,694,532 (GRCm39)	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,343,409 (GRCm39)	G318W	probably damaging	Het
Edem1	T	A	6: 108,819,923 (GRCm39)	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,932,635 (GRCm39)	F75L	probably damaging	Het
Elmo3	A	G	8: 106,034,279 (GRCm39)	Y266C	probably damaging	Het
Enpep	A	G	3: 129,092,773 (GRCm39)	S509P	probably damaging	Het
Exoc8	A	G	8: 125,623,392 (GRCm39)	M325T	probably benign	Het
Fah	A	G	7: 84,243,949 (GRCm39)	M270T	probably benign	Het
Gabbr1	T	C	17: 37,378,754 (GRCm39)	L532P	probably damaging	Het
Gm10770	T	A	2: 150,021,320 (GRCm39)	K66*	probably null	Het
Gprc5c	A	T	11: 114,755,313 (GRCm39)	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602 (GRCm39)	H377L	probably damaging	Het
Hipk3	T	C	2: 104,301,529 (GRCm39)	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,502,379 (GRCm39)	E29D	probably benign	Het
Ing3	T	A	6: 21,971,173 (GRCm39)	S326T	probably benign	Het
Ipo7	T	C	7: 109,648,014 (GRCm39)	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,294,614 (GRCm39)		probably null	Het
Kif21a	T	G	15: 90,820,015 (GRCm39)	D1583A	probably damaging	Het
Lama2	C	T	10: 27,066,672 (GRCm39)	V1070I	probably benign	Het
Lrp1	A	T	10: 127,419,770 (GRCm39)	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,389,897 (GRCm39)	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,597,078 (GRCm39)	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,600,778 (GRCm39)	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,916,522 (GRCm39)	A216D	probably damaging	Het
Nbea	T	C	3: 55,761,268 (GRCm39)	T2025A	probably benign	Het
Neb	A	G	2: 52,106,928 (GRCm39)	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,554,602 (GRCm39)	F599I	probably damaging	Het
Nsun2	T	G	13: 69,771,271 (GRCm39)		probably null	Het
Or10ab4	T	A	7: 107,655,005 (GRCm39)	M272K	possibly damaging	Het
Or8b37	G	T	9: 37,958,997 (GRCm39)	V160F	possibly damaging	Het
Otoa	T	A	7: 120,726,936 (GRCm39)	W524R	probably benign	Het
Paip1	T	A	13: 119,593,533 (GRCm39)	D182E	probably damaging	Het
Pde1a	G	A	2: 79,698,586 (GRCm39)	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,635,816 (GRCm39)	K72*	probably null	Het
Pigg	A	G	5: 108,480,057 (GRCm39)	E444G	probably null	Het
Plec	T	C	15: 76,073,237 (GRCm39)	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,627,885 (GRCm39)	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625 (GRCm38)	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,551,789 (GRCm39)	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,030,916 (GRCm39)	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,278,372 (GRCm39)	S718R	probably benign	Het
Recql4	C	A	15: 76,593,624 (GRCm39)	R162L	probably benign	Het
Rest	T	C	5: 77,416,119 (GRCm39)	L111P	probably benign	Het
Rgma	T	C	7: 73,059,216 (GRCm39)	S13P	probably damaging	Het
Rogdi	T	A	16: 4,831,175 (GRCm39)	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,439,112 (GRCm39)	D179E	probably benign	Het
Slc1a5	T	C	7: 16,529,807 (GRCm39)	C409R	probably damaging	Het
Slc25a38	A	G	9: 119,945,613 (GRCm39)	T38A	probably damaging	Het
Spag17	C	T	3: 100,003,107 (GRCm39)	Q1897*	probably null	Het
St7	C	A	6: 17,694,221 (GRCm39)	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,350,499 (GRCm39)	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,312,534 (GRCm39)	V103A	probably benign	Het
Tnc	G	A	4: 63,936,403 (GRCm39)	P178S	probably benign	Het
Vwf	A	G	6: 125,580,426 (GRCm39)	D558G		Het
Zfp541	A	G	7: 15,810,344 (GRCm39)	K127R	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
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
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'- TATCTGCAGCATAGCGAAACG -3'
(R):5'- ATAGAGCAATCTGTGGGCCTG -3'

Sequencing Primer
(F):5'- ATAGCGAAACGTGGCCC -3'
(R):5'- AATCTGTGGGCCTGGCTAC -3'

Posted On

2017-03-31