Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Smurf2'

227254

Institutional Source

Beutler Lab

Gene Symbol

Smurf2

Ensembl Gene

ENSMUSG00000018363

Gene Name

SMAD specific E3 ubiquitin protein ligase 2

Synonyms

2810411E22Rik

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106710892-106811541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106732595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 335 (Q335L)

Ref Sequence

ENSEMBL: ENSMUSP00000099356 (fasta)

Gene Model

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

AlphaFold

A2A5Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000092517
AA Change: Q348L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: Q348L

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: Q335L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: Q335L

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

noncoding transcript
Transcript: ENSMUST00000144027

Predicted Effect

probably benign
Transcript: ENSMUST00000167787
AA Change: Q348L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: Q348L

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Ciita	C	T	16: 10,336,217 (GRCm39)	T958I	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Ednrb	G	T	14: 104,054,535 (GRCm39)	N432K	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Psmc6	A	G	14: 45,567,323 (GRCm39)	K7E	possibly damaging	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	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
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
R8739:Smurf2	UTSW	11	106,743,322 (GRCm39)	nonsense	probably null
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'- TCCAATCAGATAAGAGCTCCAAAAGTG -3'
(R):5'- AACCAGTTCTATGGGGCTGC -3'

Sequencing Primer
(F):5'- ACCATCTGTAACGGGATCTGATGC -3'
(R):5'- GCTGCTGATCTGCCTCATAAGG -3'

Posted On

2014-09-17