Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Smurf2'

663238

Institutional Source

Beutler Lab

Gene Symbol

Smurf2

Ensembl Gene

ENSMUSG00000018363

Gene Name

SMAD specific E3 ubiquitin protein ligase 2

Synonyms

2810411E22Rik

MMRRC Submission

068586-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106710892-106811541 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 106743322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 241 (Y241*)

Ref Sequence

ENSEMBL: ENSMUSP00000090177 (fasta)

Gene Model

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

AlphaFold

A2A5Z6

Predicted Effect

probably null
Transcript: ENSMUST00000092517
AA Change: Y241*

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: Y241*

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 null
Transcript: ENSMUST00000103067
AA Change: Y228*

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: Y228*

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: ENSMUST00000139297

Predicted Effect

probably null
Transcript: ENSMUST00000167787
AA Change: Y241*

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: Y241*

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Arid5a	A	G	1: 36,358,677 (GRCm39)	N418S	probably benign	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chrnb2	A	G	3: 89,669,746 (GRCm39)	S109P	probably damaging	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Dync1h1	T	C	12: 110,581,014 (GRCm39)	V247A	probably damaging	Het
Eef1ece2	G	A	16: 20,449,665 (GRCm39)		probably benign	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or13a19	T	C	7: 139,902,647 (GRCm39)	F12L	probably damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pcsk5	G	T	19: 17,432,138 (GRCm39)	H1492Q	probably benign	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		probably null	Het

Other mutations in Smurf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Smurf2	APN	11	106,743,462 (GRCm39)	missense	probably benign	0.17
IGL00980:Smurf2	APN	11	106,726,921 (GRCm39)	missense	probably damaging	1.00
IGL01346:Smurf2	APN	11	106,721,741 (GRCm39)	splice site	probably benign
IGL02016:Smurf2	APN	11	106,713,504 (GRCm39)	missense	probably damaging	1.00
IGL02937:Smurf2	APN	11	106,736,873 (GRCm39)	missense	probably damaging	1.00
IGL03136:Smurf2	APN	11	106,721,874 (GRCm39)	missense	probably benign	0.38
R0513:Smurf2	UTSW	11	106,726,931 (GRCm39)	missense	probably benign	0.22
R1171:Smurf2	UTSW	11	106,743,444 (GRCm39)	missense	possibly damaging	0.80
R1459:Smurf2	UTSW	11	106,743,333 (GRCm39)	missense	possibly damaging	0.78
R1687:Smurf2	UTSW	11	106,726,896 (GRCm39)	splice site	probably null
R1697:Smurf2	UTSW	11	106,715,514 (GRCm39)	missense	possibly damaging	0.76
R1706:Smurf2	UTSW	11	106,715,573 (GRCm39)	missense	probably damaging	1.00
R2064:Smurf2	UTSW	11	106,762,374 (GRCm39)	missense	probably damaging	1.00
R2072:Smurf2	UTSW	11	106,732,595 (GRCm39)	missense	probably benign	0.00
R2433:Smurf2	UTSW	11	106,759,490 (GRCm39)	missense	probably benign	0.06
R5250:Smurf2	UTSW	11	106,747,005 (GRCm39)	critical splice donor site	probably null
R5531:Smurf2	UTSW	11	106,743,389 (GRCm39)	missense	possibly damaging	0.47
R5835:Smurf2	UTSW	11	106,726,974 (GRCm39)	missense	probably damaging	1.00
R5966:Smurf2	UTSW	11	106,766,727 (GRCm39)	missense	possibly damaging	0.78
R6093:Smurf2	UTSW	11	106,759,449 (GRCm39)	missense	possibly damaging	0.75
R6230:Smurf2	UTSW	11	106,759,330 (GRCm39)	splice site	probably null
R6373:Smurf2	UTSW	11	106,724,595 (GRCm39)	missense	probably damaging	1.00
R7011:Smurf2	UTSW	11	106,724,610 (GRCm39)	missense	probably benign	0.16
R7335:Smurf2	UTSW	11	106,736,911 (GRCm39)	missense	possibly damaging	0.52
R7472:Smurf2	UTSW	11	106,726,921 (GRCm39)	missense	probably damaging	1.00
R7851:Smurf2	UTSW	11	106,721,752 (GRCm39)	missense	probably damaging	1.00
R8246:Smurf2	UTSW	11	106,721,870 (GRCm39)	missense	probably benign	0.02
R8319:Smurf2	UTSW	11	106,715,578 (GRCm39)	missense	probably damaging	1.00
R9211:Smurf2	UTSW	11	106,759,463 (GRCm39)	missense	probably damaging	1.00
R9329:Smurf2	UTSW	11	106,743,424 (GRCm39)	missense	probably benign	0.00
R9447:Smurf2	UTSW	11	106,715,548 (GRCm39)	missense	probably damaging	1.00
RF002:Smurf2	UTSW	11	106,743,413 (GRCm39)	missense	probably benign	0.22
Z1176:Smurf2	UTSW	11	106,762,355 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCAGGCCTAATTAACTTTCAGAC -3'
(R):5'- CACTTTCCAATAGACCGGCG -3'

Sequencing Primer
(F):5'- GTAGTGGAGGCTCACACCTTTAATC -3'
(R):5'- GACCGGCGTCAGAATATTCTAGTC -3'

Posted On

2021-03-08