Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Smurf1'

285763

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 #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

144813305-144902657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144823248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 458 (P458L)

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: P432L

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

SMART Domains

Protein: ENSMUSP00000082827
Gene: ENSMUSG00000038780
AA Change: P432L

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: P432L

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

SMART Domains

Protein: ENSMUSP00000098029
Gene: ENSMUSG00000038780
AA Change: P432L

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: P458L

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

SMART Domains

Protein: ENSMUSP00000106305
Gene: ENSMUSG00000038780
AA Change: P458L

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: P227L

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,530,764 (GRCm39)	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996 (GRCm39)	M210T	probably damaging	Het
Actr10	G	A	12: 70,990,289 (GRCm39)	E114K	probably benign	Het
Adam6b	T	C	12: 113,454,764 (GRCm39)	M527T	probably benign	Het
Ahi1	C	T	10: 20,857,274 (GRCm39)	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,271,545 (GRCm39)	W424R	probably damaging	Het
Apeh	A	T	9: 107,969,071 (GRCm39)	S299T	probably benign	Het
Bbs5	A	C	2: 69,485,895 (GRCm39)	I147L	probably benign	Het
Bmp2k	T	G	5: 97,179,109 (GRCm39)		probably benign	Het
C2cd6	A	G	1: 59,101,651 (GRCm39)	F336S	probably damaging	Het
Cd274	T	A	19: 29,359,938 (GRCm39)	L248M	probably damaging	Het
Chsy3	T	A	18: 59,542,383 (GRCm39)	M507K	possibly damaging	Het
Clip2	T	C	5: 134,531,984 (GRCm39)	N572S	probably damaging	Het
Commd9	A	G	2: 101,731,324 (GRCm39)	T170A	probably benign	Het
Cpt1c	G	A	7: 44,609,580 (GRCm39)	S674L	probably damaging	Het
Dhx33	C	A	11: 70,878,030 (GRCm39)	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,386 (GRCm39)	E1583K	probably damaging	Het
Eed	G	T	7: 89,621,493 (GRCm39)	N51K	probably damaging	Het
Efcab14	A	G	4: 115,617,261 (GRCm39)		probably benign	Het
Ephb2	A	C	4: 136,384,762 (GRCm39)	M884R	probably damaging	Het
Foxn2	G	T	17: 88,770,479 (GRCm39)	A109S	probably benign	Het
Fut1	A	T	7: 45,268,871 (GRCm39)	D220V	probably damaging	Het
Gm6468	C	T	5: 95,429,066 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,515 (GRCm39)		noncoding transcript	Het
Gm9772	C	T	17: 22,226,031 (GRCm39)		probably benign	Het
Golph3	G	T	15: 12,349,578 (GRCm39)	M199I	probably benign	Het
Itpr1	A	G	6: 108,394,884 (GRCm39)	N1666D	probably damaging	Het
Itprid1	A	G	6: 55,944,922 (GRCm39)	T548A	unknown	Het
Kif12	C	T	4: 63,084,732 (GRCm39)	E529K	probably benign	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,293,949 (GRCm39)	N112I	probably damaging	Het
Msi1	T	A	5: 115,579,506 (GRCm39)		probably null	Het
Nasp	T	G	4: 116,461,997 (GRCm39)	E170A	probably damaging	Het
Necab2	T	A	8: 120,189,391 (GRCm39)	V187E	probably damaging	Het
Obscn	T	C	11: 58,929,804 (GRCm39)	E5790G	probably damaging	Het
Or7e176	A	T	9: 20,171,511 (GRCm39)	D125V	probably damaging	Het
Or9a7	A	G	6: 40,520,980 (GRCm39)	L311P	probably damaging	Het
Pard3b	C	T	1: 62,205,541 (GRCm39)	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,335,377 (GRCm39)	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,653,602 (GRCm39)	L690Q	probably damaging	Het
Pemt	T	A	11: 59,867,680 (GRCm39)	T115S	probably damaging	Het
Plcl2	A	G	17: 50,913,669 (GRCm39)	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,636,341 (GRCm39)	S750P	probably damaging	Het
Prtg	T	C	9: 72,758,771 (GRCm39)	V375A	probably damaging	Het
Psd3	A	C	8: 68,356,797 (GRCm39)	M673R	probably damaging	Het
Ptprt	T	C	2: 161,372,437 (GRCm39)	I1392V	probably damaging	Het
Rlf	G	A	4: 121,039,811 (GRCm39)	T200I	probably benign	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,309,988 (GRCm39)	D87G	possibly damaging	Het
Sema3g	T	C	14: 30,943,181 (GRCm39)	V148A	probably damaging	Het
Sgms2	G	A	3: 131,116,833 (GRCm39)	P341S	probably benign	Het
Skint7	A	T	4: 111,839,225 (GRCm39)	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,594,013 (GRCm39)	A150V	probably benign	Het
Slc35c2	A	G	2: 165,124,801 (GRCm39)	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,923,206 (GRCm39)	C495Y	possibly damaging	Het
Spag1	C	T	15: 36,221,710 (GRCm39)	T601I	probably benign	Het
Spink8	A	T	9: 109,649,665 (GRCm39)	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,065,266 (GRCm39)	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,080,427 (GRCm39)	M1K	probably null	Het
Stxbp5l	A	G	16: 37,150,257 (GRCm39)	L116P	probably damaging	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,577,960 (GRCm39)	V108A	probably damaging	Het
Tra2b	A	G	16: 22,067,790 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,902,647 (GRCm39)	H271Q	probably benign	Het
Ttn	A	G	2: 76,723,263 (GRCm39)		probably benign	Het
Usp51	A	T	X: 151,791,669 (GRCm39)	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,244,810 (GRCm39)	W355R	probably damaging	Het
Vpreb1a	T	C	16: 16,686,603 (GRCm39)	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zp3r	C	A	1: 130,524,404 (GRCm39)	C213F	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
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
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