Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01752:Twsg1'

153409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Twsg1

Ensembl Gene

ENSMUSG00000024098

Gene Name

twisted gastrulation BMP signaling modulator 1

Synonyms

1810013J15Rik, 9030422N06Rik, D17Ertd403e, Tsg

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

IGL01752

Quality Score

Status

Chromosome

Chromosomal Location

66230060-66258198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66236779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

Ref Sequence

ENSEMBL: ENSMUSP00000024906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024906]

AlphaFold

Q9EP52

Predicted Effect

probably benign
Transcript: ENSMUST00000024906
AA Change: T84A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098
AA Change: T84A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Tsg	85	221	3.6e-49	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice appear healthy at birth, but more than half of the progeny fail to thrive and exhibit dwarfism with delayed ossification and immune system. These defects result in premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	C	A	10: 85,490,366 (GRCm39)	Q1011K	probably damaging	Het
Akap11	A	T	14: 78,747,318 (GRCm39)		probably null	Het
Cdh4	A	T	2: 179,532,677 (GRCm39)	N713I	probably damaging	Het
Cdkl4	T	A	17: 80,851,043 (GRCm39)		probably benign	Het
Ddx21	A	G	10: 62,423,286 (GRCm39)	S639P	probably damaging	Het
Dock3	T	C	9: 106,902,512 (GRCm39)		probably benign	Het
Fan1	G	A	7: 64,022,542 (GRCm39)	T237M	probably benign	Het
Fbn2	T	A	18: 58,209,049 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,700,210 (GRCm39)	K347E	possibly damaging	Het
Gucy2c	C	A	6: 136,747,106 (GRCm39)	A118S	probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lox	A	G	18: 52,653,926 (GRCm39)	V390A	possibly damaging	Het
Lyn	A	T	4: 3,743,286 (GRCm39)	M69L	probably benign	Het
Mrgprb5	A	G	7: 47,818,415 (GRCm39)	F107L	probably benign	Het
Neurod2	T	C	11: 98,218,201 (GRCm39)	E321G	possibly damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcnx3	T	A	19: 5,715,365 (GRCm39)	K1962*	probably null	Het
Pde3a	T	C	6: 141,433,339 (GRCm39)		probably benign	Het
Phf10	A	G	17: 15,175,212 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rock1	A	G	18: 10,079,113 (GRCm39)		probably null	Het
Slc4a11	T	G	2: 130,530,065 (GRCm39)	T238P	probably damaging	Het
Ssu2	T	A	6: 112,352,553 (GRCm39)	K279N	probably damaging	Het
Tead3	A	T	17: 28,552,568 (GRCm39)	I275N	probably damaging	Het
Ttn	T	C	2: 76,575,137 (GRCm39)	E25252G	probably damaging	Het
Ugt3a1	A	T	15: 9,306,232 (GRCm39)	K127M	probably damaging	Het
Unc13c	A	T	9: 73,839,093 (GRCm39)	M586K	probably benign	Het
Vmn1r195	G	T	13: 22,463,421 (GRCm39)	C297F	probably benign	Het
Vps13c	T	A	9: 67,855,510 (GRCm39)	I2525N	probably damaging	Het
Zdhhc2	G	A	8: 40,926,042 (GRCm39)	A346T	probably benign	Het
Zfp52	T	G	17: 21,780,412 (GRCm39)	C87G	probably benign	Het

Other mutations in Twsg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Twsg1	APN	17	66,255,646 (GRCm39)	splice site	probably benign
IGL01313:Twsg1	APN	17	66,255,699 (GRCm39)	missense	probably damaging	1.00
IGL02326:Twsg1	APN	17	66,233,431 (GRCm39)	missense	possibly damaging	0.75
PIT4791001:Twsg1	UTSW	17	66,236,706 (GRCm39)	missense	probably benign	0.03
R3983:Twsg1	UTSW	17	66,236,758 (GRCm39)	missense	probably benign	0.20
R4328:Twsg1	UTSW	17	66,255,733 (GRCm39)	missense	probably benign
R4447:Twsg1	UTSW	17	66,236,782 (GRCm39)	missense	possibly damaging	0.58
R4449:Twsg1	UTSW	17	66,233,305 (GRCm39)	missense	possibly damaging	0.88
R4625:Twsg1	UTSW	17	66,236,546 (GRCm39)	missense	probably benign	0.00
R6597:Twsg1	UTSW	17	66,244,799 (GRCm39)	missense	probably damaging	0.99
R7265:Twsg1	UTSW	17	66,236,782 (GRCm39)	missense	possibly damaging	0.58
R8677:Twsg1	UTSW	17	66,233,402 (GRCm39)	missense	probably damaging	0.99
R8891:Twsg1	UTSW	17	66,255,657 (GRCm39)	missense
R9273:Twsg1	UTSW	17	66,233,306 (GRCm39)	missense	probably damaging	0.97

Posted On

2014-02-04