Mutagenetix > Incidental Mutation

Incidental Mutation 'R0132:Siah3'

21713

Institutional Source

Beutler Lab

Gene Symbol

Siah3

Ensembl Gene

ENSMUSG00000091722

Gene Name

siah E3 ubiquitin protein ligase family member 3

Synonyms

LOC380918

MMRRC Submission

038417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0132 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75693422-75767148 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75693574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 27 (V27I)

Ref Sequence

ENSEMBL: ENSMUSP00000130827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164848]

AlphaFold

B2RWG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164848
AA Change: V27I

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130827
Gene: ENSMUSG00000091722
AA Change: V27I

Domain	Start	End	E-Value	Type
Pfam:Sina	64	254	6.7e-47	PFAM

Meta Mutation Damage Score

0.0679

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.2%
20x: 84.8%

Validation Efficiency

90% (52/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	Het

Other mutations in Siah3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0131:Siah3	UTSW	14	75,693,574 (GRCm39)	missense	possibly damaging	0.89
R0131:Siah3	UTSW	14	75,693,574 (GRCm39)	missense	possibly damaging	0.89
R0310:Siah3	UTSW	14	75,763,367 (GRCm39)	missense	possibly damaging	0.94
R1485:Siah3	UTSW	14	75,762,994 (GRCm39)	missense	probably benign
R3406:Siah3	UTSW	14	75,763,421 (GRCm39)	missense	probably damaging	1.00
R5130:Siah3	UTSW	14	75,763,381 (GRCm39)	nonsense	probably null
R6919:Siah3	UTSW	14	75,693,578 (GRCm39)	missense	possibly damaging	0.95
R7037:Siah3	UTSW	14	75,763,025 (GRCm39)	missense	probably benign	0.01
R8553:Siah3	UTSW	14	75,763,067 (GRCm39)	missense	probably benign	0.06
R8682:Siah3	UTSW	14	75,763,043 (GRCm39)	missense	possibly damaging	0.56
X0021:Siah3	UTSW	14	75,763,106 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATTCAGAGCCCAAGGACTTACAG -3'
(R):5'- GTTGCTTGCCAGTCCAGAAAACAC -3'

Sequencing Primer
(F):5'- AAGGACTTACAGCTTCCTCCG -3'
(R):5'- ATGAGGCAAGCATCCCCTG -3'

Posted On

2013-04-11