Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02326:Twsg1'

288485

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 #

IGL02326

Quality Score

Status

Chromosome

Chromosomal Location

66230060-66258198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66233431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000024906 (fasta)

Gene Model

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

AlphaFold

Q9EP52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024906
AA Change: D173G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098
AA Change: D173G

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,465,051 (GRCm39)	V29A	unknown	Het
Abcc8	C	A	7: 45,772,281 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,705,514 (GRCm39)	I614N	probably damaging	Het
Ash1l	G	A	3: 88,873,364 (GRCm39)	R49H	probably benign	Het
Atp8b1	T	C	18: 64,671,654 (GRCm39)	H1123R	probably damaging	Het
Casp12	T	C	9: 5,358,317 (GRCm39)	Y375H	possibly damaging	Het
Cbl	A	G	9: 44,062,770 (GRCm39)	I861T	possibly damaging	Het
Cdh20	T	C	1: 104,902,764 (GRCm39)	L485P	probably damaging	Het
Cobl	A	T	11: 12,336,712 (GRCm39)	N25K	possibly damaging	Het
Col14a1	T	C	15: 55,282,193 (GRCm39)	V818A	unknown	Het
Csmd3	G	A	15: 47,619,359 (GRCm39)		probably benign	Het
Dpp6	A	G	5: 27,869,755 (GRCm39)	Y509C	probably damaging	Het
Fabp2	C	T	3: 122,692,395 (GRCm39)	R96C	probably damaging	Het
Fam53a	T	C	5: 33,757,938 (GRCm39)	D395G	probably damaging	Het
Gabrb1	T	A	5: 71,858,190 (GRCm39)	I72K	probably damaging	Het
Hmcn2	G	A	2: 31,340,964 (GRCm39)	S4479N	probably damaging	Het
Hrnr	C	T	3: 93,231,052 (GRCm39)	T430I	unknown	Het
Ighv1-53	T	A	12: 115,122,235 (GRCm39)	T47S	probably benign	Het
Ilk	C	A	7: 105,390,840 (GRCm39)	P261Q	probably damaging	Het
Ints10	T	G	8: 69,257,485 (GRCm39)	D228E	probably damaging	Het
Kcnq5	A	T	1: 21,472,816 (GRCm39)	S782R	probably benign	Het
Map3k4	A	G	17: 12,467,897 (GRCm39)	S1046P	probably damaging	Het
Musk	C	T	4: 58,354,113 (GRCm39)	P374S	probably benign	Het
Or52e18	T	A	7: 104,609,853 (GRCm39)	I29F	probably benign	Het
Or5b108	C	A	19: 13,168,779 (GRCm39)	Y249*	probably null	Het
Or5j1	G	A	2: 86,879,355 (GRCm39)	S75L	possibly damaging	Het
Or5w19	T	A	2: 87,699,019 (GRCm39)	I228N	probably damaging	Het
Pkd2	T	C	5: 104,624,941 (GRCm39)	Y246H	probably benign	Het
Plekha5	G	T	6: 140,529,576 (GRCm39)	G340*	probably null	Het
Plxna4	T	A	6: 32,129,840 (GRCm39)	M1828L	probably damaging	Het
Prex1	A	G	2: 166,463,105 (GRCm39)	I252T	probably benign	Het
Pura	A	G	18: 36,420,831 (GRCm39)	D206G	probably damaging	Het
Rad54b	T	A	4: 11,612,713 (GRCm39)	F782I	probably damaging	Het
Rbp4	T	C	19: 38,112,563 (GRCm39)	D90G	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scn7a	C	A	2: 66,530,392 (GRCm39)	R651L	probably benign	Het
Sh2d3c	A	T	2: 32,639,163 (GRCm39)		probably null	Het
Slc43a1	T	G	2: 84,680,115 (GRCm39)	L87R	probably damaging	Het
Sppl2c	A	G	11: 104,078,099 (GRCm39)	T300A	probably benign	Het
Srgap2	T	A	1: 131,284,645 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,294,182 (GRCm39)	V531M	probably damaging	Het
Ugt2b37	G	T	5: 87,388,861 (GRCm39)	H451N	probably benign	Het
Ugt2b38	C	T	5: 87,571,592 (GRCm39)	D147N	probably damaging	Het
Vmn1r15	T	C	6: 57,235,255 (GRCm39)	I41T	probably benign	Het
Vwa5a	A	T	9: 38,649,252 (GRCm39)	T667S	probably benign	Het
Xrn2	A	G	2: 146,889,633 (GRCm39)	E672G	probably benign	Het
Zfp235	T	A	7: 23,834,727 (GRCm39)	M1K	probably null	Het
Zmym1	T	C	4: 126,941,553 (GRCm39)	E847G	probably damaging	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
IGL01752:Twsg1	APN	17	66,236,779 (GRCm39)	missense	probably benign	0.04
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

2015-04-16