Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Smurf2'

410528

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smurf2

Ensembl Gene

ENSMUSG00000018363

Gene Name

SMAD specific E3 ubiquitin protein ligase 2

Synonyms

2810411E22Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

106820066-106920715 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106831048 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 527 (D527E)

Ref Sequence

ENSEMBL: ENSMUSP00000099356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092517] [ENSMUST00000103067] [ENSMUST00000139297] [ENSMUST00000167787]

Predicted Effect

probably benign
Transcript: ENSMUST00000092517
AA Change: D540E

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: D540E

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: D527E

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: D527E

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

noncoding transcript
Transcript: ENSMUST00000130688

Predicted Effect

probably benign
Transcript: ENSMUST00000139297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144027

Predicted Effect

probably benign
Transcript: ENSMUST00000167787
AA Change: D540E

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: D540E

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

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	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
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
R8246:Smurf2	UTSW	11	106831044	missense	probably benign	0.02
R8319:Smurf2	UTSW	11	106824752	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

Posted On

2016-08-02