Mutagenetix > Incidental Mutation

Incidental Mutation 'R8246:Smurf2'

640771

Institutional Source

Beutler Lab

Gene Symbol

Smurf2

Ensembl Gene

ENSMUSG00000018363

Gene Name

SMAD specific E3 ubiquitin protein ligase 2

Synonyms

2810411E22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106820066-106920715 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106831044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 542 (T542A)

Ref Sequence

ENSEMBL: ENSMUSP00000090177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092517] [ENSMUST00000103067] [ENSMUST00000167787]

AlphaFold

A2A5Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000092517
AA Change: T542A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: T542A

Domain	Start	End	E-Value	Type
C2	13	116	1.51e-15	SMART
WW	158	190	1.96e-11	SMART
WW	252	284	2.47e-8	SMART
WW	298	330	4.97e-13	SMART
low complexity region	341	351	N/A	INTRINSIC
HECTc	412	748	1.75e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103067
AA Change: T529A

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: T529A

Domain	Start	End	E-Value	Type
C2	13	103	1e-6	SMART
WW	145	177	1.96e-11	SMART
WW	239	271	2.47e-8	SMART
WW	285	317	4.97e-13	SMART
low complexity region	328	338	N/A	INTRINSIC
HECTc	399	735	1.75e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167787
AA Change: T542A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: T542A

Domain	Start	End	E-Value	Type
C2	13	116	1.51e-15	SMART
WW	158	190	1.96e-11	SMART
WW	252	284	2.47e-8	SMART
WW	298	330	4.97e-13	SMART
low complexity region	341	351	N/A	INTRINSIC
HECTc	412	748	1.75e-165	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele occasionally exhibit kinked or looped tails and abnormal vertebrae. Mice homozygous or heterozygous for a gene trap allele exhibit increased tumor incidence and delayed cellular senescence. [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
9330182L06Rik	T	C	5: 9,446,966	V810A	probably benign	Het
Alpk3	C	A	7: 81,092,776	D780E	probably benign	Het
Anln	A	C	9: 22,350,955	S947A	probably benign	Het
Borcs6	C	T	11: 69,060,551	P252S	probably benign	Het
Ccdc109b	C	A	3: 129,915,165	V328L	probably benign	Het
Ccdc42	C	A	11: 68,587,296	Q28K	probably benign	Het
Cp	A	G	3: 19,975,022	I554M	probably damaging	Het
Dnm3	T	G	1: 162,307,917	D429A	probably damaging	Het
Dok5	A	G	2: 170,800,893	K37R	probably benign	Het
Dtwd2	A	T	18: 49,698,425	Y268N	probably benign	Het
Eif3a	T	C	19: 60,779,368	E244G	probably damaging	Het
Fam149a	T	C	8: 45,381,618	E48G	probably benign	Het
Fam160a2	T	C	7: 105,389,660	E124G	probably damaging	Het
Fam186a	T	A	15: 99,940,547	E2605D	unknown	Het
Fyn	T	A	10: 39,529,529	W264R	probably damaging	Het
Gm10024	T	A	10: 77,711,535	S27T	unknown	Het
Gm156	A	G	6: 129,775,376		probably benign	Het
Gpr157	C	T	4: 150,102,296	L294F	possibly damaging	Het
Kif6	C	T	17: 49,758,514	Q506*	probably null	Het
Loxhd1	A	G	18: 77,363,546	K707R	possibly damaging	Het
Mdn1	C	T	4: 32,657,284	P12S	probably benign	Het
Mrgprb3	T	G	7: 48,643,520	L94F	probably benign	Het
Mycbp2	G	T	14: 103,155,204	P3307Q	probably damaging	Het
Nol8	T	G	13: 49,655,248		probably benign	Het
Olfr1308	T	C	2: 111,960,138	I312V	probably benign	Het
Olfr744	A	G	14: 50,618,384	Y54C	probably benign	Het
Pax5	T	C	4: 44,570,027	H286R	probably benign	Het
Rmdn2	T	A	17: 79,672,537	C381*	probably null	Het
Rpusd4	A	G	9: 35,272,580	I202V	probably benign	Het
Shank3	A	T	15: 89,533,346	R49W	possibly damaging	Het
Sorcs2	G	A	5: 36,062,588	R371C	probably damaging	Het
Sqstm1	T	C	11: 50,210,561	H66R	probably damaging	Het
Stard8	C	T	X: 99,065,964	S155L	probably benign	Het
Svep1	A	T	4: 58,091,889	V1582D	probably damaging	Het
Tecrl	T	C	5: 83,279,309	M331V	probably damaging	Het
Tinf2	T	C	14: 55,679,585	S368G	probably damaging	Het
Tmem184c	A	T	8: 77,610,185	I14N	probably damaging	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Ulk4	T	C	9: 121,156,875	*911W	probably null	Het
Unc13b	T	C	4: 43,175,954	F2261L	unknown	Het
Vps16	G	C	2: 130,438,873	G241R	probably damaging	Het
Ythdc1	C	T	5: 86,817,322	T292I	possibly damaging	Het

Other mutations in Smurf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Smurf2	APN	11	106852636	missense	probably benign	0.17
IGL00980:Smurf2	APN	11	106836095	missense	probably damaging	1.00
IGL01346:Smurf2	APN	11	106830915	splice site	probably benign
IGL02016:Smurf2	APN	11	106822678	missense	probably damaging	1.00
IGL02937:Smurf2	APN	11	106846047	missense	probably damaging	1.00
IGL03136:Smurf2	APN	11	106831048	missense	probably benign	0.38
R0513:Smurf2	UTSW	11	106836105	missense	probably benign	0.22
R1171:Smurf2	UTSW	11	106852618	missense	possibly damaging	0.80
R1459:Smurf2	UTSW	11	106852507	missense	possibly damaging	0.78
R1687:Smurf2	UTSW	11	106836070	splice site	probably null
R1697:Smurf2	UTSW	11	106824688	missense	possibly damaging	0.76
R1706:Smurf2	UTSW	11	106824747	missense	probably damaging	1.00
R2064:Smurf2	UTSW	11	106871548	missense	probably damaging	1.00
R2072:Smurf2	UTSW	11	106841769	missense	probably benign	0.00
R2433:Smurf2	UTSW	11	106868664	missense	probably benign	0.06
R5250:Smurf2	UTSW	11	106856179	critical splice donor site	probably null
R5531:Smurf2	UTSW	11	106852563	missense	possibly damaging	0.47
R5835:Smurf2	UTSW	11	106836148	missense	probably damaging	1.00
R5966:Smurf2	UTSW	11	106875901	missense	possibly damaging	0.78
R6093:Smurf2	UTSW	11	106868623	missense	possibly damaging	0.75
R6230:Smurf2	UTSW	11	106868504	splice site	probably null
R6373:Smurf2	UTSW	11	106833769	missense	probably damaging	1.00
R7011:Smurf2	UTSW	11	106833784	missense	probably benign	0.16
R7335:Smurf2	UTSW	11	106846085	missense	possibly damaging	0.52
R7472:Smurf2	UTSW	11	106836095	missense	probably damaging	1.00
R7851:Smurf2	UTSW	11	106830926	missense	probably damaging	1.00
R8319:Smurf2	UTSW	11	106824752	missense	probably damaging	1.00
R8739:Smurf2	UTSW	11	106852496	nonsense	probably null
R9211:Smurf2	UTSW	11	106868637	missense	probably damaging	1.00
R9329:Smurf2	UTSW	11	106852598	missense	probably benign	0.00
R9447:Smurf2	UTSW	11	106824722	missense	probably damaging	1.00
RF002:Smurf2	UTSW	11	106852587	missense	probably benign	0.22
Z1176:Smurf2	UTSW	11	106871529	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACAGAAGTTTGTTCCAATTG -3'
(R):5'- CTCAGGAAGTAAAATGCTGGTGTG -3'

Sequencing Primer
(F):5'- GCTTTTCTATATTGATATCCTGGAGC -3'
(R):5'- AAAATGCTGGTGTGTTTATAAGGAG -3'

Posted On

2020-07-28