Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Smurf1'

292147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smurf1

Ensembl Gene

ENSMUSG00000038780

Gene Name

SMAD specific E3 ubiquitin protein ligase 1

Synonyms

4930431E10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

144813305-144902657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144821534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 496 (M496K)

Ref Sequence

ENSEMBL: ENSMUSP00000106305 (fasta)

Gene Model

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

AlphaFold

Q9CUN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000085684
AA Change: M470K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: M470K

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 damaging
Transcript: ENSMUST00000100461
AA Change: M470K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: M470K

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: M496K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: M496K

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

unknown
Transcript: ENSMUST00000198621
AA Change: M265K

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	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
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
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

Posted On

2015-04-16