Mutagenetix > Incidental Mutation

Incidental Mutation 'R1934:Arih1'

215701

Institutional Source

Beutler Lab

Gene Symbol

Arih1

Ensembl Gene

ENSMUSG00000025234

Gene Name

ariadne RBR E3 ubiquitin protein ligase 1

Synonyms

UIP77

MMRRC Submission

039952-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R1934 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59295541-59393901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59302215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 431 (D431G)

Ref Sequence

ENSEMBL: ENSMUSP00000131516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026264] [ENSMUST00000165322] [ENSMUST00000171856] [ENSMUST00000171975]

AlphaFold

Q9Z1K5

Predicted Effect

probably benign
Transcript: ENSMUST00000026264

SMART Domains

Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234

Domain	Start	End	E-Value	Type
low complexity region	10	57	N/A	INTRINSIC
low complexity region	60	90	N/A	INTRINSIC
RING	184	232	1.34e-1	SMART
IBR	254	301	8.2e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165322
AA Change: D431G

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

SMART Domains

Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234
AA Change: D431G

Domain	Start	End	E-Value	Type
low complexity region	10	46	N/A	INTRINSIC
RING	105	153	1.34e-1	SMART
IBR	175	236	1.16e-25	SMART
RING	195	266	2.01e0	SMART
IBR	244	308	2.75e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168456

Predicted Effect

probably benign
Transcript: ENSMUST00000171856

Predicted Effect

probably damaging
Transcript: ENSMUST00000171975
AA Change: D510G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234
AA Change: D510G

Domain	Start	End	E-Value	Type
low complexity region	10	57	N/A	INTRINSIC
low complexity region	60	90	N/A	INTRINSIC
RING	184	232	1.34e-1	SMART
IBR	254	315	1.16e-25	SMART
RING	274	345	2.01e0	SMART
IBR	323	387	2.75e-9	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,626,792 (GRCm39)	L548P	probably damaging	Het
Abca6	A	G	11: 110,100,909 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,871,235 (GRCm39)		probably null	Het
Acacb	G	A	5: 114,336,343 (GRCm39)	A686T	probably benign	Het
Acot6	T	C	12: 84,153,367 (GRCm39)	V203A	probably benign	Het
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adamts9	A	G	6: 92,920,102 (GRCm39)	L12P	possibly damaging	Het
Adamtsl2	A	T	2: 26,979,605 (GRCm39)	D258V	probably damaging	Het
Aox4	G	A	1: 58,285,095 (GRCm39)	V616I	probably benign	Het
Ap1m1	A	G	8: 73,009,637 (GRCm39)	I382V	probably damaging	Het
Arhgef2	G	A	3: 88,537,098 (GRCm39)	R8Q	probably damaging	Het
Arhgef37	T	G	18: 61,657,014 (GRCm39)	E17A	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Astn2	C	T	4: 65,353,426 (GRCm39)	V1115M	probably damaging	Het
Atg7	T	A	6: 114,678,196 (GRCm39)	M280K	probably damaging	Het
Birc2	T	C	9: 7,854,500 (GRCm39)	T397A	possibly damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Cdadc1	A	T	14: 59,827,309 (GRCm39)	S121T	possibly damaging	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Cenpb	A	G	2: 131,021,184 (GRCm39)	S205P	probably benign	Het
Chsy1	T	C	7: 65,821,991 (GRCm39)	V742A	probably damaging	Het
Col12a1	G	A	9: 79,511,804 (GRCm39)	R133*	probably null	Het
Col18a1	A	C	10: 76,948,578 (GRCm39)	S311R	possibly damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Coq2	T	A	5: 100,809,731 (GRCm39)	R17S	probably damaging	Het
Ctf1	A	G	7: 127,311,936 (GRCm39)	R4G	probably damaging	Het
Cwc27	T	C	13: 104,768,184 (GRCm39)	D437G	probably benign	Het
Cyp4f14	T	C	17: 33,125,289 (GRCm39)	N430D	probably damaging	Het
Dars2	A	G	1: 160,890,811 (GRCm39)		probably null	Het
Dgkz	A	T	2: 91,767,449 (GRCm39)	M848K	possibly damaging	Het
Dnhd1	T	G	7: 105,357,789 (GRCm39)	V3208G	probably benign	Het
Dsg1b	A	G	18: 20,528,963 (GRCm39)	Y233C	probably damaging	Het
Edem3	A	T	1: 151,680,034 (GRCm39)	D460V	probably damaging	Het
Ednra	A	G	8: 78,415,747 (GRCm39)	S167P	possibly damaging	Het
Eif3m	A	T	2: 104,831,624 (GRCm39)	V180D	probably damaging	Het
Fam217a	T	A	13: 35,094,864 (GRCm39)	R207S	probably damaging	Het
Fcgbp	G	A	7: 27,806,518 (GRCm39)	G2162D	probably damaging	Het
Fhod3	A	T	18: 25,223,335 (GRCm39)	I894F	probably benign	Het
Fpgs	A	T	2: 32,577,993 (GRCm39)	I143N	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,152 (GRCm39)	S70P	probably benign	Het
Frs2	T	C	10: 116,914,806 (GRCm39)	M38V	probably damaging	Het
Fsip2	A	G	2: 82,810,902 (GRCm39)	N2407S	possibly damaging	Het
Gabrg2	T	A	11: 41,811,297 (GRCm39)	T283S	probably benign	Het
Gas2l1	T	A	11: 5,011,408 (GRCm39)	T474S	probably benign	Het
Gli1	A	T	10: 127,167,108 (GRCm39)	M715K	possibly damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5800	T	A	14: 51,949,396 (GRCm39)	N183I	possibly damaging	Het
Gm8674	T	A	13: 50,055,471 (GRCm39)		noncoding transcript	Het
Gnat3	A	T	5: 18,224,508 (GRCm39)	I303F	possibly damaging	Het
Grin2d	C	T	7: 45,506,251 (GRCm39)	V547M	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Heatr5b	T	C	17: 79,103,347 (GRCm39)	I1169V	possibly damaging	Het
Icam5	A	G	9: 20,946,082 (GRCm39)	T305A	probably benign	Het
Itga11	T	A	9: 62,651,796 (GRCm39)	N309K	probably damaging	Het
Itgb6	T	C	2: 60,499,493 (GRCm39)	D100G	probably benign	Het
Kdm3b	A	G	18: 34,946,597 (GRCm39)	K862R	probably benign	Het
Kif7	T	C	7: 79,361,286 (GRCm39)	D135G	probably benign	Het
Lrp4	A	G	2: 91,310,777 (GRCm39)	D606G	probably damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Metap1d	A	T	2: 71,352,927 (GRCm39)	H252L	possibly damaging	Het
Mfhas1	A	G	8: 36,058,251 (GRCm39)	K909E	possibly damaging	Het
Mrgprh	C	T	17: 13,095,838 (GRCm39)	T26I	probably damaging	Het
Myo15b	T	C	11: 115,754,310 (GRCm39)	S937P	probably benign	Het
Neto2	A	T	8: 86,397,033 (GRCm39)	I73N	possibly damaging	Het
Nod2	T	C	8: 89,390,347 (GRCm39)	I196T	probably benign	Het
Nvl	T	G	1: 180,926,693 (GRCm39)	T788P	probably damaging	Het
Or13a25	C	A	7: 140,247,951 (GRCm39)	C243*	probably null	Het
Or2h2	A	T	17: 37,396,906 (GRCm39)	D50E	possibly damaging	Het
Pax3	G	A	1: 78,080,117 (GRCm39)	T423I	possibly damaging	Het
Pde4dip	A	G	3: 97,600,007 (GRCm39)	V2403A	possibly damaging	Het
Phip	C	T	9: 82,785,235 (GRCm39)	V827I	probably benign	Het
Plcb3	A	G	19: 6,941,977 (GRCm39)	F285L	probably damaging	Het
Pnp2	A	G	14: 51,193,675 (GRCm39)	I16V	probably benign	Het
Pola2	A	G	19: 6,003,769 (GRCm39)	L202P	probably damaging	Het
Ppfia1	A	T	7: 144,058,847 (GRCm39)	N651K	probably benign	Het
Prss53	T	C	7: 127,485,920 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rasgrf2	A	T	13: 92,131,825 (GRCm39)		probably null	Het
Rccd1	T	A	7: 79,970,272 (GRCm39)	N115I	possibly damaging	Het
Rpgrip1	A	T	14: 52,352,101 (GRCm39)	T26S	possibly damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Slc36a4	T	C	9: 15,632,085 (GRCm39)	V87A	probably damaging	Het
Slc5a4b	A	T	10: 75,917,307 (GRCm39)	V243E	possibly damaging	Het
Sos2	T	G	12: 69,695,315 (GRCm39)	I141L	probably damaging	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tshr	T	C	12: 91,503,955 (GRCm39)	S298P	probably damaging	Het
Tspan14	T	C	14: 40,656,209 (GRCm39)	Y6C	probably damaging	Het
Ttn	A	T	2: 76,577,384 (GRCm39)	V24503E	probably damaging	Het
Vcan	T	A	13: 89,851,045 (GRCm39)	N1305I	probably damaging	Het
Vmn2r81	A	G	10: 79,083,628 (GRCm39)	M1V	probably null	Het
Vps39	A	T	2: 120,148,558 (GRCm39)	V873E	probably damaging	Het
Vstm2a	A	T	11: 16,359,734 (GRCm39)	D270V	unknown	Het
Wdr24	A	T	17: 26,043,240 (GRCm39)	M21L	possibly damaging	Het
Wee1	A	G	7: 109,721,698 (GRCm39)	T48A	probably benign	Het
Zfp369	T	C	13: 65,444,965 (GRCm39)	C703R	probably damaging	Het
Zfp532	A	T	18: 65,818,682 (GRCm39)	D1114V	probably damaging	Het
Zfp758	A	G	17: 22,592,633 (GRCm39)	T46A	probably damaging	Het

Other mutations in Arih1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Arih1	APN	9	59,333,452 (GRCm39)	missense	probably damaging	1.00
IGL02616:Arih1	APN	9	59,319,759 (GRCm39)	missense	probably benign	0.41
P0037:Arih1	UTSW	9	59,313,076 (GRCm39)	missense	possibly damaging	0.46
R0411:Arih1	UTSW	9	59,393,266 (GRCm39)	missense	possibly damaging	0.93
R0416:Arih1	UTSW	9	59,333,993 (GRCm39)	splice site	probably benign
R0602:Arih1	UTSW	9	59,302,154 (GRCm39)	splice site	probably benign
R1513:Arih1	UTSW	9	59,310,663 (GRCm39)	missense	probably damaging	1.00
R4880:Arih1	UTSW	9	59,344,168 (GRCm39)	missense	possibly damaging	0.83
R5023:Arih1	UTSW	9	59,393,515 (GRCm39)	missense	unknown
R5057:Arih1	UTSW	9	59,393,515 (GRCm39)	missense	unknown
R5317:Arih1	UTSW	9	59,300,619 (GRCm39)	missense	probably benign	0.02
R7348:Arih1	UTSW	9	59,393,341 (GRCm39)	missense	probably damaging	0.98
R8114:Arih1	UTSW	9	59,303,836 (GRCm39)	missense	probably benign	0.04
R8305:Arih1	UTSW	9	59,303,770 (GRCm39)	missense	probably benign	0.14
R9150:Arih1	UTSW	9	59,344,069 (GRCm39)	missense	possibly damaging	0.78
R9621:Arih1	UTSW	9	59,393,520 (GRCm39)	small deletion	probably benign
R9748:Arih1	UTSW	9	59,300,581 (GRCm39)	missense	possibly damaging	0.85
Z1191:Arih1	UTSW	9	59,393,605 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATAAATGGCTAGATTCCCTCCG -3'
(R):5'- GGATACTGATCTTGCATACAATGTG -3'

Sequencing Primer
(F):5'- AATGGCTAGATTCCCTCCGAATGTTC -3'
(R):5'- GTTTGAGGCCAGCATGAATTAC -3'

Posted On

2014-07-14