Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02114:Arih1'

280281

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arih1

Ensembl Gene

ENSMUSG00000025234

Gene Name

ariadne RBR E3 ubiquitin protein ligase 1

Synonyms

UIP77

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL02114

Quality Score

Status

Chromosome

Chromosomal Location

59295541-59393901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59333452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 229 (C229S)

Ref Sequence

ENSEMBL: ENSMUSP00000126531 (fasta)

Gene Model

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

AlphaFold

Q9Z1K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000026264
AA Change: C229S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026264
Gene: ENSMUSG00000025234
AA Change: C229S

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: C150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131516
Gene: ENSMUSG00000025234
AA Change: C150S

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: ENSMUST00000168497

Predicted Effect

probably damaging
Transcript: ENSMUST00000171975
AA Change: C229S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126531
Gene: ENSMUSG00000025234
AA Change: C229S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700084J12Rik	C	A	15: 33,405,844 (GRCm39)		probably benign	Het
Akap3	T	C	6: 126,842,959 (GRCm39)	V526A	probably damaging	Het
Ano6	C	A	15: 95,841,341 (GRCm39)	S479R	probably damaging	Het
Aqp8	C	A	7: 123,063,419 (GRCm39)	H90N	probably damaging	Het
Col6a6	C	A	9: 105,644,398 (GRCm39)		probably null	Het
Cp	A	G	3: 20,020,511 (GRCm39)	E168G	probably benign	Het
Creb5	C	T	6: 53,581,443 (GRCm39)		probably benign	Het
Cstdc3	T	A	16: 36,131,617 (GRCm39)	Y42*	probably null	Het
Cyp2c66	C	A	19: 39,159,519 (GRCm39)		probably benign	Het
Dcpp2	C	A	17: 24,119,609 (GRCm39)	A141D	possibly damaging	Het
Dnah5	A	G	15: 28,397,270 (GRCm39)	D3321G	probably damaging	Het
Ecsit	T	C	9: 21,989,440 (GRCm39)		probably benign	Het
Gabra1	T	C	11: 42,026,402 (GRCm39)	I297V	probably damaging	Het
Gja8	T	C	3: 96,827,341 (GRCm39)	K107R	probably benign	Het
Gm16686	A	T	4: 88,673,739 (GRCm39)	L30Q	probably null	Het
Hbp1	T	C	12: 31,980,674 (GRCm39)		probably benign	Het
Inhbc	T	C	10: 127,205,971 (GRCm39)	I99V	probably benign	Het
Kcne3	T	A	7: 99,833,697 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,947,881 (GRCm39)	Y926H	probably damaging	Het
Lhfpl5	G	T	17: 28,795,149 (GRCm39)	A59S	possibly damaging	Het
Mov10	T	A	3: 104,702,634 (GRCm39)		probably benign	Het
Myl12b	A	T	17: 71,284,164 (GRCm39)	N21K	possibly damaging	Het
Ncoa7	A	T	10: 30,538,360 (GRCm39)	V675E	probably damaging	Het
Nt5c1b	T	C	12: 10,425,444 (GRCm39)	I255T	probably damaging	Het
Numa1	T	A	7: 101,661,083 (GRCm39)		probably benign	Het
Or13c3	T	A	4: 52,856,144 (GRCm39)	Y123F	probably damaging	Het
Otop2	A	T	11: 115,217,806 (GRCm39)	D214V	possibly damaging	Het
Plec	C	A	15: 76,057,748 (GRCm39)	G3928V	probably damaging	Het
Prkcz	T	C	4: 155,356,047 (GRCm39)	E176G	probably damaging	Het
Qdpr	G	A	5: 45,592,018 (GRCm39)	T106I	possibly damaging	Het
R3hdm2	T	G	10: 127,319,978 (GRCm39)	M481R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Skic2	C	T	17: 35,060,092 (GRCm39)	V145M	probably damaging	Het
Slx4ip	T	A	2: 136,842,120 (GRCm39)	V15D	probably damaging	Het
Stat4	T	C	1: 52,142,024 (GRCm39)	S624P	probably damaging	Het
Tecpr2	T	A	12: 110,935,321 (GRCm39)	L1380Q	probably damaging	Het
Traf2	T	C	2: 25,415,004 (GRCm39)	I286V	possibly damaging	Het
Vmn2r30	T	C	7: 7,340,408 (GRCm39)	I29V	possibly damaging	Het
Wdr43	A	G	17: 71,959,843 (GRCm39)	Q561R	probably benign	Het
Zfp607b	T	A	7: 27,403,150 (GRCm39)	F535L	probably benign	Het

Other mutations in Arih1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1934:Arih1	UTSW	9	59,302,215 (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

Posted On

2015-04-16