Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Spred3'

293853

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spred3

Ensembl Gene

ENSMUSG00000037239

Gene Name

sprouty-related EVH1 domain containing 3

Synonyms

D130060H24Rik, Spred-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

28858254-28869836 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28865830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 126 (S126P)

Ref Sequence

ENSEMBL: ENSMUSP00000046216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033886] [ENSMUST00000048923] [ENSMUST00000098609] [ENSMUST00000208288] [ENSMUST00000208330] [ENSMUST00000209019]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033886

SMART Domains

Protein: ENSMUSP00000033886
Gene: ENSMUSG00000031493

Domain	Start	End	E-Value	Type
low complexity region	42	61	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048923
AA Change: S126P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000046216
Gene: ENSMUSG00000037239
AA Change: S126P

Domain	Start	End	E-Value	Type
Pfam:WH1	1	110	1.6e-13	PFAM
low complexity region	120	130	N/A	INTRINSIC
low complexity region	142	153	N/A	INTRINSIC
Pfam:Sprouty	292	400	7.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098609

SMART Domains

Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493

Domain	Start	End	E-Value	Type
Pfam:GGN	38	342	2.1e-158	PFAM
Pfam:GGN	340	709	1.5e-165	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207778

Predicted Effect

probably benign
Transcript: ENSMUST00000208288

Predicted Effect

probably benign
Transcript: ENSMUST00000208330

Predicted Effect

probably benign
Transcript: ENSMUST00000209019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208659

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 protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,790,764 (GRCm39)	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,391,701 (GRCm39)	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,747,785 (GRCm39)	S74P	probably benign	Het
Adprs	C	T	4: 126,211,701 (GRCm39)		probably benign	Het
Amn1	A	G	6: 149,070,944 (GRCm39)		probably null	Het
Antxr1	A	T	6: 87,264,038 (GRCm39)	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cabp5	A	T	7: 13,132,269 (GRCm39)	R13*	probably null	Het
Cacna1e	A	G	1: 154,296,859 (GRCm39)	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,875,263 (GRCm39)	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,283,918 (GRCm39)	P74S	probably damaging	Het
Clec3a	C	T	8: 115,152,240 (GRCm39)	S82L	probably benign	Het
Cnih3	A	G	1: 181,234,078 (GRCm39)	D43G	probably damaging	Het
Dpp10	G	A	1: 123,578,087 (GRCm39)	T128M	probably damaging	Het
Edar	A	T	10: 58,464,403 (GRCm39)	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,251,272 (GRCm39)	H199Q	probably benign	Het
Fermt1	A	G	2: 132,783,871 (GRCm39)	L46P	probably damaging	Het
Glipr1	A	G	10: 111,824,799 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,675,428 (GRCm39)	N129S	probably damaging	Het
Ift88	T	C	14: 57,718,871 (GRCm39)	S619P	possibly damaging	Het
Itga9	T	A	9: 118,679,873 (GRCm39)	V262E	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mta1	T	A	12: 113,100,203 (GRCm39)	I688N	possibly damaging	Het
Muc4	A	T	16: 32,570,894 (GRCm39)	R651S	probably benign	Het
Opcml	A	G	9: 28,586,560 (GRCm39)	I93V	probably damaging	Het
Or12d17	C	T	17: 37,777,477 (GRCm39)	P127S	probably damaging	Het
Or13p4	A	G	4: 118,547,538 (GRCm39)	L37P	probably damaging	Het
Or9r7	A	G	10: 129,962,773 (GRCm39)	V51A	possibly damaging	Het
Parg	T	G	14: 31,984,638 (GRCm39)		probably null	Het
Rps3a3	A	G	13: 108,807,417 (GRCm39)		probably benign	Het
Safb	T	A	17: 56,907,813 (GRCm39)		probably benign	Het
Sat2	G	T	11: 69,513,575 (GRCm39)	C54F	probably damaging	Het
Scin	T	A	12: 40,127,530 (GRCm39)	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,146,717 (GRCm39)	S362T	probably benign	Het
Smchd1	T	C	17: 71,738,254 (GRCm39)	D537G	probably null	Het
Ssh1	C	T	5: 114,080,578 (GRCm39)	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,441 (GRCm39)	E28G	possibly damaging	Het
Stox1	A	T	10: 62,495,455 (GRCm39)		probably benign	Het
Syn3	T	C	10: 85,900,770 (GRCm39)	I373V	probably benign	Het
Tecrl	A	T	5: 83,502,674 (GRCm39)	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,033,191 (GRCm39)	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,002,524 (GRCm39)	Q147H	probably damaging	Het
Usp24	T	A	4: 106,264,326 (GRCm39)	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,264,487 (GRCm39)	D438V	probably damaging	Het

Other mutations in Spred3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Spred3	APN	7	28,860,948 (GRCm39)	utr 3 prime	probably benign
IGL03355:Spred3	APN	7	28,860,997 (GRCm39)	missense	unknown
R0480:Spred3	UTSW	7	28,862,400 (GRCm39)	missense	probably damaging	0.99
R2396:Spred3	UTSW	7	28,866,059 (GRCm39)	missense	probably damaging	1.00
R4161:Spred3	UTSW	7	28,861,210 (GRCm39)	missense	probably damaging	1.00
R4899:Spred3	UTSW	7	28,861,258 (GRCm39)	missense	probably damaging	1.00
R4974:Spred3	UTSW	7	28,867,249 (GRCm39)	missense	probably damaging	1.00
R5291:Spred3	UTSW	7	28,867,255 (GRCm39)	missense	probably damaging	1.00
R6192:Spred3	UTSW	7	28,862,402 (GRCm39)	missense	probably benign	0.08
R8711:Spred3	UTSW	7	28,866,086 (GRCm39)	missense	possibly damaging	0.91
R8853:Spred3	UTSW	7	28,861,415 (GRCm39)	missense	probably benign	0.13
R9072:Spred3	UTSW	7	28,865,955 (GRCm39)	nonsense	probably null
R9073:Spred3	UTSW	7	28,865,955 (GRCm39)	nonsense	probably null

Posted On

2015-04-16