Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Smurf1'

188772

Institutional Source

Beutler Lab

Gene Symbol

Smurf1

Ensembl Gene

ENSMUSG00000038780

Gene Name

SMAD specific E3 ubiquitin protein ligase 1

Synonyms

4930431E10Rik

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144813305-144902657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144817474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 712 (I712K)

Ref Sequence

ENSEMBL: ENSMUSP00000106305 (fasta)

Gene Model

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

AlphaFold

Q9CUN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085684
AA Change: I686K

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: I686K

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: I683K

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: I683K

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 damaging
Transcript: ENSMUST00000110677
AA Change: I712K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: I712K

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Adrb1	C	T	19: 56,711,705 (GRCm39)	S301L	possibly damaging	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	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
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
R6263:Smurf1	UTSW	5	144,818,541 (GRCm39)	missense	probably damaging	0.96
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'- AAATCTGATGCCCACAGCAGCG -3'
(R):5'- GCACCGGAAACCTTCTCTTAGCAC -3'

Sequencing Primer
(F):5'- ACAGCAGCGACCCAGTG -3'
(R):5'- TTTACCCTGCACACAGGAGTG -3'

Posted On

2014-05-09