Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Smurf2'

545037

Institutional Source

Beutler Lab

Gene Symbol

Smurf2

Ensembl Gene

ENSMUSG00000018363

Gene Name

SMAD specific E3 ubiquitin protein ligase 2

Synonyms

2810411E22Rik

MMRRC Submission

045112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106710892-106811541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106724610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 511 (L511P)

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: L524P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: L524P

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: L511P

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: L511P

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 benign
Transcript: ENSMUST00000167787
AA Change: L524P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: L524P

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: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Apbb1ip	A	T	2: 22,725,943 (GRCm39)	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Htr1d	T	C	4: 136,170,317 (GRCm39)	M182T	probably benign	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,649,825 (GRCm39)	C47R	probably damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,639,352 (GRCm39)	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,770,969 (GRCm39)	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,187,186 (GRCm39)	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	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
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'- AGGGATGAACTATCAGATATAGCTTG -3'
(R):5'- TTGCCTGCCTGTATGTCTGT -3'

Sequencing Primer
(F):5'- TGAGCTACCTAACATGGTGC -3'
(R):5'- ACGGTGGCTTCACATTAC -3'

Posted On

2019-05-13