Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4791001:Twsg1'

556989

Institutional Source

Beutler Lab

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 #

PIT4791001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66230060-66258198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66236706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 108 (E108G)

Ref Sequence

ENSEMBL: ENSMUSP00000024906 (fasta)

Gene Model

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

AlphaFold

Q9EP52

Predicted Effect

probably benign
Transcript: ENSMUST00000024906
AA Change: E108G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098
AA Change: E108G

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

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 83.3%
20x: 68.6%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	G	A	15: 72,993,089 (GRCm39)	T472I	possibly damaging	Het
Ambp	T	A	4: 63,072,298 (GRCm39)		probably benign	Het
As3mt	T	A	19: 46,708,788 (GRCm39)	F261I	probably damaging	Het
Atxn1l	A	G	8: 110,458,579 (GRCm39)	L561P	probably damaging	Het
Cnr2	A	G	4: 135,644,263 (GRCm39)	T114A	probably damaging	Het
Dchs1	A	G	7: 105,408,178 (GRCm39)	Y1885H	probably damaging	Het
Dcn	A	G	10: 97,343,604 (GRCm39)	N188S	probably benign	Het
Dennd6b	A	C	15: 89,070,955 (GRCm39)		probably null	Het
Dstyk	A	G	1: 132,377,665 (GRCm39)	T424A	probably benign	Het
Gabrr3	A	G	16: 59,250,298 (GRCm39)		probably null	Het
Gnai3	A	G	3: 108,025,621 (GRCm39)	S153P	probably benign	Het
Igkv2-112	T	A	6: 68,197,599 (GRCm39)	S90R	probably damaging	Het
Lxn	T	C	3: 67,365,979 (GRCm39)	D173G	probably damaging	Het
Mcm3ap	T	A	10: 76,342,307 (GRCm39)	I1600N	probably damaging	Het
Myof	A	T	19: 37,971,406 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,762,931 (GRCm39)		probably benign	Het
Oaz3	A	G	3: 94,340,852 (GRCm39)	Y232H	unknown	Het
Or5aq1b	A	T	2: 86,902,046 (GRCm39)	M144K	possibly damaging	Het
Pkdcc	C	T	17: 83,527,577 (GRCm39)	R252*	probably null	Het
Plcl1	A	G	1: 55,741,090 (GRCm39)	N907S	probably benign	Het
Plscr1	T	A	9: 92,145,150 (GRCm39)	Y53*	probably null	Het
Pm20d2	T	C	4: 33,174,756 (GRCm39)	T377A	probably benign	Het
Ptchd3	T	A	11: 121,722,875 (GRCm39)	V321D	probably damaging	Het
Ranbp3l	T	C	15: 9,060,829 (GRCm39)	I366T	probably damaging	Het
Sardh	T	C	2: 27,087,660 (GRCm39)	E737G	probably damaging	Het
Scart2	T	C	7: 139,853,975 (GRCm39)	F326S	possibly damaging	Het
Scn1a	T	C	2: 66,103,626 (GRCm39)	E1878G	probably benign	Het
Slit3	T	C	11: 35,552,072 (GRCm39)	V872A	possibly damaging	Het
Sugp2	C	T	8: 70,713,195 (GRCm39)	Q1054*	probably null	Het
Syne3	T	C	12: 104,929,438 (GRCm39)	T261A	probably benign	Het
Tgif2	T	C	2: 156,695,232 (GRCm39)	S126P	probably benign	Het
Ticrr	T	C	7: 79,319,386 (GRCm39)	V457A	possibly damaging	Het
Tm7sf2	T	C	19: 6,113,635 (GRCm39)	I299V	probably benign	Het
Tnks1bp1	A	G	2: 84,892,902 (GRCm39)	E943G	probably benign	Het
Tpd52l2	T	A	2: 181,141,681 (GRCm39)	F21L	probably benign	Het
Tpm2	A	G	4: 43,519,263 (GRCm39)	L176P	probably benign	Het
Trim34a	C	A	7: 103,909,691 (GRCm39)	T293K	probably benign	Het
Ttc23	A	T	7: 67,312,135 (GRCm39)	D14V	probably damaging	Het
Txndc15	C	T	13: 55,869,507 (GRCm39)	A220V	probably benign	Het
Vmn1r183	A	G	7: 23,754,266 (GRCm39)	Q23R	probably damaging	Het
Vmn1r31	A	G	6: 58,449,028 (GRCm39)	V279A	probably damaging	Het
Vmo1	A	C	11: 70,404,661 (GRCm39)	C113W	probably damaging	Het
Zfp984	A	G	4: 147,840,603 (GRCm39)	S83P	probably benign	Het
Zik1	A	C	7: 10,226,256 (GRCm39)	L37R	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGACCTCGGAAGTCCTAACC -3'
(R):5'- ATTGAGAGCTTTCATCCCAGG -3'

Sequencing Primer
(F):5'- TCGGAAGTCCTAACCACAGGG -3'
(R):5'- GAGCTTTCATCCCAGGGAATTAGC -3'

Posted On

2019-06-07