Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Smurf1'

506817

Institutional Source

Beutler Lab

Gene Symbol

Smurf1

Ensembl Gene

ENSMUSG00000038780

Gene Name

SMAD specific E3 ubiquitin protein ligase 1

Synonyms

4930431E10Rik

MMRRC Submission

044437-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144813305-144902657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144818541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 633 (V633A)

Ref Sequence

ENSEMBL: ENSMUSP00000082827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085684] [ENSMUST00000100461] [ENSMUST00000110677]

AlphaFold

Q9CUN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000085684
AA Change: V633A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: V633A

Domain	Start	End	E-Value	Type
C2	14	117	3.03e-15	SMART
low complexity region	185	193	N/A	INTRINSIC
WW	235	267	1.06e-7	SMART
WW	281	313	8.66e-13	SMART
HECTc	392	731	3.48e-160	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100461
AA Change: V633A

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: V633A

Domain	Start	End	E-Value	Type
C2	14	117	3.03e-15	SMART
low complexity region	185	193	N/A	INTRINSIC
WW	235	267	1.06e-7	SMART
WW	281	313	8.66e-13	SMART
HECTc	392	728	2.72e-162	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110677
AA Change: V659A

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: V659A

Domain	Start	End	E-Value	Type
C2	14	117	3.03e-15	SMART
low complexity region	185	193	N/A	INTRINSIC
WW	235	267	1.06e-7	SMART
WW	307	339	8.66e-13	SMART
HECTc	418	757	3.48e-160	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126822

Predicted Effect

probably benign
Transcript: ENSMUST00000198621

Meta Mutation Damage Score

0.6867

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for one knock-out allele display increased osteoblast function, bone density, and thickness of the cortical bone in long bones. Mice homozygous for a different knock-out allele are viable and only display gastrulation defects in combination with a Smurf2 knock-out allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Ddx5	A	G	11: 106,679,139 (GRCm39)	S2P	possibly damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Itga7	T	A	10: 128,779,955 (GRCm39)	D501E	probably benign	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2	A	G	15: 103,159,378 (GRCm39)	I31T	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Or52e19b	C	A	7: 103,032,403 (GRCm39)	V269F	possibly damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Spata31d1d	T	C	13: 59,873,797 (GRCm39)	Q1246R	probably benign	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,619 (GRCm39)	Y324*	probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	probably damaging	Het

Other mutations in Smurf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Smurf1	APN	5	144,818,584 (GRCm39)	missense	probably benign	0.00
IGL01577:Smurf1	APN	5	144,829,998 (GRCm39)	missense	probably damaging	0.99
IGL02232:Smurf1	APN	5	144,823,248 (GRCm39)	missense	probably damaging	1.00
IGL02407:Smurf1	APN	5	144,821,534 (GRCm39)	missense	probably damaging	1.00
IGL02959:Smurf1	APN	5	144,836,199 (GRCm39)	missense	probably damaging	1.00
IGL02997:Smurf1	APN	5	144,834,815 (GRCm39)	nonsense	probably null
IGL03227:Smurf1	APN	5	144,835,992 (GRCm39)	missense	probably damaging	1.00
IGL03293:Smurf1	APN	5	144,818,609 (GRCm39)	missense	probably benign
R1563:Smurf1	UTSW	5	144,819,323 (GRCm39)	missense	probably damaging	1.00
R1652:Smurf1	UTSW	5	144,817,474 (GRCm39)	missense	probably damaging	1.00
R2698:Smurf1	UTSW	5	144,820,372 (GRCm39)	unclassified	probably benign
R3794:Smurf1	UTSW	5	144,837,985 (GRCm39)	critical splice donor site	probably null
R4274:Smurf1	UTSW	5	144,833,585 (GRCm39)	intron	probably benign
R4282:Smurf1	UTSW	5	144,819,403 (GRCm39)	missense	probably damaging	1.00
R4287:Smurf1	UTSW	5	144,828,268 (GRCm39)	missense	probably benign	0.00
R4643:Smurf1	UTSW	5	144,816,179 (GRCm39)	missense	probably damaging	1.00
R4723:Smurf1	UTSW	5	144,829,994 (GRCm39)	missense	probably damaging	1.00
R5496:Smurf1	UTSW	5	144,819,403 (GRCm39)	nonsense	probably null
R5702:Smurf1	UTSW	5	144,838,021 (GRCm39)	missense	possibly damaging	0.96
R5846:Smurf1	UTSW	5	144,816,190 (GRCm39)	missense	probably damaging	1.00
R6107:Smurf1	UTSW	5	144,831,314 (GRCm39)	missense	possibly damaging	0.75
R6477:Smurf1	UTSW	5	144,826,602 (GRCm39)	missense	possibly damaging	0.49
R6548:Smurf1	UTSW	5	144,836,307 (GRCm39)	missense	probably damaging	1.00
R6584:Smurf1	UTSW	5	144,819,333 (GRCm39)	missense	probably damaging	0.97
R6981:Smurf1	UTSW	5	144,823,179 (GRCm39)	missense	possibly damaging	0.69
R7062:Smurf1	UTSW	5	144,830,356 (GRCm39)	splice site	probably null
R7900:Smurf1	UTSW	5	144,836,183 (GRCm39)	missense	probably damaging	1.00
R8271:Smurf1	UTSW	5	144,830,897 (GRCm39)	missense	possibly damaging	0.53
R8361:Smurf1	UTSW	5	144,820,506 (GRCm39)	missense	probably damaging	1.00
R8919:Smurf1	UTSW	5	144,820,422 (GRCm39)	nonsense	probably null
R9312:Smurf1	UTSW	5	144,830,893 (GRCm39)	missense	probably damaging	1.00
R9324:Smurf1	UTSW	5	144,817,463 (GRCm39)	missense	probably benign	0.02
R9493:Smurf1	UTSW	5	144,833,395 (GRCm39)	missense
R9625:Smurf1	UTSW	5	144,830,920 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- ACTCCAAGTCTTGCTGTTCAAC -3'
(R):5'- TGACTGATTGCTGACAGCC -3'

Sequencing Primer
(F):5'- TGCTGTTCAACACCTCAGGAATG -3'
(R):5'- CACTGCTTCTTGAGTCTCGGTAG -3'

Posted On

2018-03-15