Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Siah2'

19023

Institutional Source

Beutler Lab

Gene Symbol

Siah2

Ensembl Gene

ENSMUSG00000036432

Gene Name

siah E3 ubiquitin protein ligase 2

Synonyms

Sinh2

MMRRC Submission

038316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58582359-58599821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58583713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 191 (H191R)

Ref Sequence

ENSEMBL: ENSMUSP00000067496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070368]

AlphaFold

Q06986

Predicted Effect

probably benign
Transcript: ENSMUST00000070368
AA Change: H191R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067496
Gene: ENSMUSG00000036432
AA Change: H191R

Domain	Start	End	E-Value	Type
low complexity region	18	70	N/A	INTRINSIC
RING	81	115	6.18e-1	SMART
Pfam:Sina	123	319	6.5e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145032

Meta Mutation Damage Score

0.1054

Coding Region Coverage

1x: 84.2%
3x: 78.9%
10x: 65.7%
20x: 50.3%

Validation Efficiency

96% (92/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,326,620 (GRCm39)		noncoding transcript	Het
Abcc5	T	A	16: 20,197,411 (GRCm39)	K647*	probably null	Het
Aplp1	A	G	7: 30,135,241 (GRCm39)		probably benign	Het
Baiap3	T	C	17: 25,462,643 (GRCm39)	E1105G	probably damaging	Het
Brinp3	T	G	1: 146,777,189 (GRCm39)	S545R	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccr6	G	A	17: 8,475,598 (GRCm39)	V268M	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
D630045J12Rik	G	A	6: 38,160,902 (GRCm39)	Q1081*	probably null	Het
Dhx15	T	C	5: 52,314,830 (GRCm39)	T626A	probably damaging	Het
Dhx36	T	C	3: 62,385,016 (GRCm39)	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,860,805 (GRCm39)	I2855T	probably benign	Het
Duxf4	C	A	10: 58,071,385 (GRCm39)	E276D	probably benign	Het
Fsip2	T	A	2: 82,830,201 (GRCm39)		probably benign	Het
Galnt11	A	T	5: 25,453,855 (GRCm39)	D27V	probably damaging	Het
Gm5134	T	A	10: 75,829,718 (GRCm39)	C335S	probably damaging	Het
Hdhd2	A	T	18: 77,058,311 (GRCm39)	K227N	probably damaging	Het
Itgb4	A	T	11: 115,870,453 (GRCm39)	D94V	possibly damaging	Het
Krtcap3	A	G	5: 31,410,303 (GRCm39)	H227R	probably benign	Het
Macf1	T	C	4: 123,369,370 (GRCm39)	H232R	probably damaging	Het
Map2k4	A	G	11: 65,603,110 (GRCm39)	I174T	probably damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mcm9	G	A	10: 53,413,997 (GRCm39)	T1099I	possibly damaging	Het
Nkapd1	A	C	9: 50,521,725 (GRCm39)	D65E	probably damaging	Het
Nqo2	T	C	13: 34,165,490 (GRCm39)	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,197,998 (GRCm39)		probably benign	Het
Phf7	C	T	14: 30,960,443 (GRCm39)		probably benign	Het
Plac8	T	A	5: 100,704,434 (GRCm39)	T88S	probably benign	Het
Prss52	T	G	14: 64,341,857 (GRCm39)	V16G	probably benign	Het
Psmb9	G	A	17: 34,403,277 (GRCm39)	A80V	probably benign	Het
Ptprk	T	A	10: 28,468,891 (GRCm39)	V1425E	probably damaging	Het
Scart2	G	A	7: 139,876,310 (GRCm39)	R594H	probably benign	Het
Scn2a	T	C	2: 65,500,859 (GRCm39)	V7A	possibly damaging	Het
Serpini1	T	C	3: 75,526,620 (GRCm39)	Y291H	probably damaging	Het
Setd6	A	G	8: 96,443,293 (GRCm39)	K19E	probably damaging	Het
Slc27a2	T	C	2: 126,409,806 (GRCm39)		probably benign	Het
Tbc1d10a	T	C	11: 4,163,680 (GRCm39)	C277R	probably damaging	Het
Trim55	A	C	3: 19,698,866 (GRCm39)	M32L	probably benign	Het
Unc5b	T	C	10: 60,614,698 (GRCm39)	T200A	probably benign	Het
Wrap53	A	T	11: 69,454,712 (GRCm39)	M219K	probably damaging	Het
Zfp790	G	A	7: 29,525,113 (GRCm39)		probably benign	Het

Other mutations in Siah2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02410:Siah2	APN	3	58,583,468 (GRCm39)	missense	probably damaging	1.00
R0021:Siah2	UTSW	3	58,583,713 (GRCm39)	missense	probably benign	0.00
R0123:Siah2	UTSW	3	58,583,536 (GRCm39)	missense	probably damaging	0.98
R0134:Siah2	UTSW	3	58,583,536 (GRCm39)	missense	probably damaging	0.98
R0564:Siah2	UTSW	3	58,583,656 (GRCm39)	missense	probably benign	0.32
R0648:Siah2	UTSW	3	58,583,635 (GRCm39)	missense	probably damaging	0.99
R1164:Siah2	UTSW	3	58,583,737 (GRCm39)	missense	probably benign	0.43
R1387:Siah2	UTSW	3	58,598,935 (GRCm39)	missense	possibly damaging	0.95
R1955:Siah2	UTSW	3	58,583,518 (GRCm39)	missense	probably damaging	0.99
R3732:Siah2	UTSW	3	58,583,671 (GRCm39)	missense	probably damaging	1.00
R3732:Siah2	UTSW	3	58,583,671 (GRCm39)	missense	probably damaging	1.00
R3733:Siah2	UTSW	3	58,583,671 (GRCm39)	missense	probably damaging	1.00
R5704:Siah2	UTSW	3	58,583,821 (GRCm39)	missense	probably damaging	1.00
R6738:Siah2	UTSW	3	58,598,974 (GRCm39)	missense	probably benign	0.37
R6821:Siah2	UTSW	3	58,599,191 (GRCm39)	missense	probably benign	0.23
R8356:Siah2	UTSW	3	58,583,503 (GRCm39)	missense	probably benign	0.20
R8456:Siah2	UTSW	3	58,583,503 (GRCm39)	missense	probably benign	0.20
R9162:Siah2	UTSW	3	58,599,104 (GRCm39)	missense	unknown
Z1177:Siah2	UTSW	3	58,599,041 (GRCm39)	missense	unknown

Posted On

2013-03-25