Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01307:Twsg1'

73513

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 #

IGL01307

Quality Score

Status

Chromosome

Chromosomal Location

66230060-66258198 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 66255646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024906 (fasta)

Gene Model

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

AlphaFold

Q9EP52

Predicted Effect

probably benign
Transcript: ENSMUST00000024906

SMART Domains

Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098

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
Abca13	T	A	11: 9,247,159 (GRCm39)	M2302K	possibly damaging	Het
Actl9	A	G	17: 33,653,152 (GRCm39)	E404G	probably damaging	Het
Adamts12	A	T	15: 11,237,632 (GRCm39)	I314L	possibly damaging	Het
Card6	C	A	15: 5,129,484 (GRCm39)	M637I	possibly damaging	Het
Ccdc122	G	A	14: 77,329,516 (GRCm39)		probably benign	Het
Cdh10	A	G	15: 18,899,886 (GRCm39)	D71G	probably benign	Het
Cdk15	A	T	1: 59,326,955 (GRCm39)	Y214F	probably benign	Het
Cdon	A	G	9: 35,368,860 (GRCm39)	K365E	probably benign	Het
Cyp2c37	T	C	19: 39,981,023 (GRCm39)	V47A	probably benign	Het
Ddc	T	A	11: 11,789,462 (GRCm39)	D271V	probably damaging	Het
Dnah6	G	A	6: 73,042,708 (GRCm39)	A3290V	probably damaging	Het
Dtl	A	T	1: 191,302,811 (GRCm39)	S20T	possibly damaging	Het
Egf	A	C	3: 129,533,642 (GRCm39)	I66S	probably damaging	Het
Eif4a3	T	C	11: 119,184,387 (GRCm39)	K268E	probably damaging	Het
Fbxl16	A	T	17: 26,038,338 (GRCm39)		probably benign	Het
Fez2	C	T	17: 78,689,029 (GRCm39)		probably benign	Het
Fras1	C	A	5: 96,929,551 (GRCm39)	T3985K	probably benign	Het
Gbp4	T	C	5: 105,284,887 (GRCm39)	M1V	probably null	Het
Gpnmb	A	G	6: 49,022,299 (GRCm39)	D143G	probably benign	Het
Grm5	A	T	7: 87,724,220 (GRCm39)	T837S	probably damaging	Het
Hmcn1	T	C	1: 150,620,752 (GRCm39)	T1153A	possibly damaging	Het
Hp	C	T	8: 110,302,415 (GRCm39)	V178I	probably benign	Het
Macf1	A	T	4: 123,276,922 (GRCm39)	V4061E	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtf2	C	T	5: 108,254,756 (GRCm39)	T519M	probably damaging	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Ncapd2	A	G	6: 125,145,582 (GRCm39)	V1355A	possibly damaging	Het
Nhlrc2	C	A	19: 56,540,231 (GRCm39)	Y73*	probably null	Het
Nwd2	A	T	5: 63,965,626 (GRCm39)	S1737C	possibly damaging	Het
Or1p1	T	A	11: 74,180,254 (GRCm39)	C261S	possibly damaging	Het
Osmr	A	G	15: 6,873,908 (GRCm39)	V163A	probably damaging	Het
Palm3	T	C	8: 84,756,074 (GRCm39)	S529P	possibly damaging	Het
Pcnt	A	G	10: 76,247,422 (GRCm39)	Y1037H	probably damaging	Het
Pkhd1l1	T	C	15: 44,393,425 (GRCm39)	I1920T	possibly damaging	Het
Plekha7	A	G	7: 115,744,479 (GRCm39)		probably benign	Het
Psd	C	T	19: 46,303,097 (GRCm39)	G762R	probably damaging	Het
Psmb8	A	G	17: 34,418,210 (GRCm39)	T51A	probably benign	Het
Rbm12	A	C	2: 155,937,302 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,804,085 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,800 (GRCm39)	G158S	probably damaging	Het
Spata31f1a	G	T	4: 42,850,963 (GRCm39)	L398I	probably benign	Het
Stag1	A	G	9: 100,833,841 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,302,749 (GRCm39)	M74T	probably benign	Het
Trim24	C	A	6: 37,942,570 (GRCm39)	D957E	possibly damaging	Het
Trpa1	A	T	1: 14,966,771 (GRCm39)	M531K	probably benign	Het
Ttn	A	G	2: 76,736,637 (GRCm39)	Y4376H	possibly damaging	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Vwa5b2	A	G	16: 20,423,020 (GRCm39)	D1006G	probably benign	Het

Other mutations in Twsg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07