Mutagenetix > Incidental Mutation

Incidental Mutation 'R8271:Smurf1'

637708

Institutional Source

Beutler Lab

Gene Symbol

Smurf1

Ensembl Gene

ENSMUSG00000038780

Gene Name

SMAD specific E3 ubiquitin protein ligase 1

Synonyms

4930431E10Rik

MMRRC Submission

067652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144813305-144902657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144830897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 293 (E293K)

Ref Sequence

ENSEMBL: ENSMUSP00000106305 (fasta)

Gene Model

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

AlphaFold

Q9CUN6

Predicted Effect

probably benign
Transcript: ENSMUST00000085684

SMART Domains

Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780

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

probably benign
Transcript: ENSMUST00000100461

SMART Domains

Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780

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

possibly damaging
Transcript: ENSMUST00000110677
AA Change: E293K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: E293K

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

probably benign
Transcript: ENSMUST00000198621

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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
Abcb1a	A	T	5: 8,736,212 (GRCm39)	I202L	probably benign	Het
Acadsb	A	T	7: 131,045,423 (GRCm39)	T452S	unknown	Het
Ago2	A	T	15: 72,991,315 (GRCm39)	L541Q	probably damaging	Het
Ap2a2	A	T	7: 141,200,812 (GRCm39)	E553V	probably damaging	Het
Astn2	T	C	4: 65,910,663 (GRCm39)	K442E	unknown	Het
Bicd1	A	G	6: 149,414,633 (GRCm39)	T449A	probably benign	Het
Btn1a1	T	A	13: 23,645,919 (GRCm39)	Q150L	probably benign	Het
C1ra	G	A	6: 124,499,610 (GRCm39)	G599R	probably damaging	Het
Camta2	T	A	11: 70,561,886 (GRCm39)	Q1076L	probably benign	Het
Capza2	T	A	6: 17,657,214 (GRCm39)	C157S	probably damaging	Het
Ccnk	A	G	12: 108,162,114 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,251,483 (GRCm39)	D516V	probably damaging	Het
Cntnap5b	A	G	1: 99,999,832 (GRCm39)	T197A	probably benign	Het
Comp	A	G	8: 70,829,110 (GRCm39)	N260S	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Ddx60	T	A	8: 62,393,142 (GRCm39)		probably null	Het
Defb22	C	T	2: 152,327,712 (GRCm39)	V158I	unknown	Het
Diaph3	T	C	14: 87,103,949 (GRCm39)	S812G	probably damaging	Het
Dohh	G	T	10: 81,221,844 (GRCm39)	Q79H	probably benign	Het
Dyrk1b	T	G	7: 27,882,080 (GRCm39)	V147G	probably benign	Het
Fastkd2	C	T	1: 63,787,183 (GRCm39)	T539I	probably benign	Het
Itpr3	G	A	17: 27,306,622 (GRCm39)	D229N	probably damaging	Het
Kcnv1	A	T	15: 44,972,754 (GRCm39)	D376E	probably benign	Het
Kif13a	C	A	13: 46,906,057 (GRCm39)	V1577F	probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Mcoln2	A	C	3: 145,898,179 (GRCm39)	N100T	unknown	Het
Mdh1b	C	T	1: 63,759,164 (GRCm39)	V143M	possibly damaging	Het
Mfsd4b4	G	T	10: 39,768,101 (GRCm39)	Q377K	probably benign	Het
Mpv17l	T	C	16: 13,762,584 (GRCm39)	F122S	probably damaging	Het
Mylk	T	C	16: 34,742,949 (GRCm39)	S1154P	probably damaging	Het
Myo5b	A	G	18: 74,760,261 (GRCm39)	Y259C	probably damaging	Het
Nek1	G	A	8: 61,558,646 (GRCm39)	V931M	probably benign	Het
Nkd2	C	A	13: 73,969,437 (GRCm39)	G343V	probably damaging	Het
Obox8	T	A	7: 14,065,928 (GRCm39)	T197S	probably benign	Het
Or10j5	T	A	1: 172,784,744 (GRCm39)	C127*	probably null	Het
Or13g1	G	A	7: 85,955,962 (GRCm39)	R120C	probably benign	Het
Or4b1b	A	G	2: 90,112,616 (GRCm39)	F101S	possibly damaging	Het
Or5m11b	T	G	2: 85,806,085 (GRCm39)	M166R	probably benign	Het
Or5m11b	T	C	2: 85,805,766 (GRCm39)	Y60H	probably damaging	Het
Or5p57	A	G	7: 107,664,980 (GRCm39)	S342P	probably damaging	Het
Or5t7	T	A	2: 86,507,218 (GRCm39)	H153L	probably benign	Het
Palb2	A	T	7: 121,724,097 (GRCm39)	S551T	probably damaging	Het
Pcdha12	T	A	18: 37,154,953 (GRCm39)	D557E	probably damaging	Het
Pcdhb21	T	A	18: 37,648,921 (GRCm39)	D683E	probably benign	Het
Plekhb1	A	G	7: 100,305,936 (GRCm39)		probably benign	Het
Plekhg5	A	G	4: 152,187,464 (GRCm39)	N90D	probably damaging	Het
Pnpla1	A	G	17: 29,100,579 (GRCm39)	D482G	probably benign	Het
Rc3h1	A	T	1: 160,768,329 (GRCm39)		probably benign	Het
Rfpl4	C	T	7: 5,113,539 (GRCm39)	R214H	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Setd5	T	C	6: 113,092,031 (GRCm39)	I284T	possibly damaging	Het
Tas2r106	A	T	6: 131,655,023 (GRCm39)	I276N	probably damaging	Het
Tbc1d2	C	A	4: 46,649,791 (GRCm39)	A82S	possibly damaging	Het
Tex19.2	A	G	11: 121,008,010 (GRCm39)	I146T	possibly damaging	Het
Tmem107	T	G	11: 68,962,281 (GRCm39)	N79K	probably damaging	Het
Tpsab1	A	T	17: 25,564,305 (GRCm39)	S50T	probably benign	Het
Ttn	T	A	2: 76,553,594 (GRCm39)	K31008*	probably null	Het
Ubox5	T	C	2: 130,441,629 (GRCm39)	T353A	probably benign	Het
Usp24	T	A	4: 106,285,711 (GRCm39)	H2445Q	probably damaging	Het
Uvrag	T	C	7: 98,537,698 (GRCm39)	D499G	probably benign	Het
Xndc1	A	T	7: 101,728,343 (GRCm39)	N247I	possibly damaging	Het
Yipf2	A	T	9: 21,501,291 (GRCm39)	W226R	probably damaging	Het
Zfp335	T	A	2: 164,739,973 (GRCm39)	Q793L	probably damaging	Het
Zfp385c	A	G	11: 100,548,291 (GRCm39)	S54P	probably damaging	Het
Zpld2	G	T	4: 133,930,278 (GRCm39)	T9K	unknown	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
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
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'- CCAAAGACAGGAAGCTGCTTGG -3'
(R):5'- ACTGGAAACATGGTGGGCTG -3'

Sequencing Primer
(F):5'- CAGGAAGCTGCTTGGGGGTAG -3'
(R):5'- GCTGTTGAAATTGGCCATCTAC -3'

Posted On

2020-07-28