Mutagenetix > Incidental Mutation

Incidental Mutation 'R7265:Twsg1'

564902

Institutional Source

Beutler Lab

Gene Symbol

Twsg1

Ensembl Gene

ENSMUSG00000024098

Gene Name

twisted gastrulation BMP signaling modulator 1

Synonyms

1810013J15Rik, 9030422N06Rik, D17Ertd403e, Tsg

MMRRC Submission

045355-MU

Accession Numbers

Essential gene?

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

Stock #

R7265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66230060-66258198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66236782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 83 (D83N)

Ref Sequence

ENSEMBL: ENSMUSP00000024906 (fasta)

Gene Model

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

AlphaFold

Q9EP52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024906
AA Change: D83N

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098
AA Change: D83N

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

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb3	A	G	11: 30,948,495 (GRCm39)	E57G	probably benign	Het
B3glct	A	G	5: 149,632,785 (GRCm39)	D45G	probably benign	Het
BC034090	C	A	1: 155,101,073 (GRCm39)	C397F	probably damaging	Het
Bicd1	A	G	6: 149,415,374 (GRCm39)	K696E	probably damaging	Het
Btnl4	C	T	17: 34,694,868 (GRCm39)	C15Y	probably benign	Het
Cabin1	T	C	10: 75,557,257 (GRCm39)	N300S		Het
Chia1	T	A	3: 106,036,239 (GRCm39)	L273Q	probably damaging	Het
Coq2	A	G	5: 100,808,136 (GRCm39)	S222P	possibly damaging	Het
Dgkb	T	C	12: 38,234,931 (GRCm39)	V432A	possibly damaging	Het
Dpp3	A	G	19: 4,973,797 (GRCm39)	F92S	probably damaging	Het
Elapor2	T	C	5: 9,496,975 (GRCm39)	V813A	possibly damaging	Het
Emcn	T	C	3: 137,122,839 (GRCm39)	S183P	probably damaging	Het
Emcn	T	A	3: 137,124,837 (GRCm39)	W217R	probably damaging	Het
Enpp2	A	C	15: 54,773,429 (GRCm39)		probably null	Het
Epb41	T	C	4: 131,695,145 (GRCm39)	E14G	unknown	Het
Fhip1b	G	T	7: 105,033,432 (GRCm39)	R609S	probably benign	Het
Grk4	A	G	5: 34,873,608 (GRCm39)	R225G	probably damaging	Het
Insl6	A	T	19: 29,298,945 (GRCm39)	W156R	possibly damaging	Het
Ints3	A	T	3: 90,311,290 (GRCm39)		probably null	Het
Jarid2	G	A	13: 45,055,748 (GRCm39)	G318D	probably benign	Het
Kif16b	A	T	2: 142,556,650 (GRCm39)	L596H	probably damaging	Het
Lctl	T	A	9: 64,034,203 (GRCm39)	Y281N	probably damaging	Het
Letm1	A	T	5: 33,935,992 (GRCm39)	C34S	possibly damaging	Het
Lrrc32	T	C	7: 98,148,644 (GRCm39)	S475P	probably damaging	Het
Lrrc37a	T	A	11: 103,389,767 (GRCm39)	D1886V	probably benign	Het
Macf1	A	T	4: 123,301,670 (GRCm39)	I944K	probably benign	Het
Mark4	T	C	7: 19,185,650 (GRCm39)	D28G	probably benign	Het
Mecom	C	A	3: 30,034,282 (GRCm39)	A465S	possibly damaging	Het
Muc16	A	G	9: 18,567,768 (GRCm39)	S1584P	unknown	Het
Mycbp2	A	G	14: 103,434,679 (GRCm39)		probably null	Het
Myo18b	G	A	5: 112,959,938 (GRCm39)	R1372W	probably damaging	Het
Myo1c	T	C	11: 75,560,616 (GRCm39)	I706T	possibly damaging	Het
Myo1g	T	C	11: 6,460,933 (GRCm39)	T704A	possibly damaging	Het
Nwd1	A	G	8: 73,419,556 (GRCm39)	K914E	probably benign	Het
Or5ac20	T	A	16: 59,104,287 (GRCm39)	D191V	probably damaging	Het
Or8b101	A	T	9: 38,020,227 (GRCm39)	I77L	possibly damaging	Het
Or8k23	C	T	2: 86,186,088 (GRCm39)	V213I	probably benign	Het
Otub2	C	T	12: 103,366,480 (GRCm39)	S99L	probably damaging	Het
Pak5	G	A	2: 135,943,105 (GRCm39)	S345L	probably benign	Het
Pcdhb20	A	T	18: 37,638,616 (GRCm39)	I381F	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,969 (GRCm39)	T659A	probably damaging	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Pik3c2a	T	A	7: 115,987,321 (GRCm39)	K533N	probably damaging	Het
Pkd1l1	T	A	11: 8,879,402 (GRCm39)	Q933L		Het
Ppp4r3a	A	T	12: 101,019,770 (GRCm39)	M395K	possibly damaging	Het
Pramel11	C	A	4: 143,621,991 (GRCm39)	V455L	probably benign	Het
Ptpn20	A	G	14: 33,336,481 (GRCm39)	T107A	probably benign	Het
Scaf8	T	A	17: 3,227,900 (GRCm39)	D376E	unknown	Het
Scn11a	C	A	9: 119,644,331 (GRCm39)	C143F	probably damaging	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Sec13	A	T	6: 113,712,097 (GRCm39)	Y79*	probably null	Het
Sez6	T	A	11: 77,853,691 (GRCm39)	I287N	probably damaging	Het
Slc52a3	T	A	2: 151,846,336 (GRCm39)	I99K	possibly damaging	Het
Slco4c1	T	G	1: 96,799,518 (GRCm39)	H106P	probably damaging	Het
Tada2b	A	G	5: 36,633,952 (GRCm39)	Y209H	probably damaging	Het
Tas1r2	T	A	4: 139,396,963 (GRCm39)	D796E	probably benign	Het
Tdrd12	A	T	7: 35,187,147 (GRCm39)	M581K		Het
Thnsl1	A	G	2: 21,217,269 (GRCm39)	E341G	probably damaging	Het
Tlk2	C	T	11: 105,075,070 (GRCm39)	R11*	probably null	Het
Tmco6	T	C	18: 36,872,396 (GRCm39)		probably null	Het
Trmt44	A	T	5: 35,721,647 (GRCm39)	H505Q	probably benign	Het
Trpc1	T	C	9: 95,590,328 (GRCm39)	M710V	probably benign	Het
Ttc21b	T	C	2: 66,040,517 (GRCm39)	E858G	possibly damaging	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Vmn2r6	T	C	3: 64,464,195 (GRCm39)	N213S	probably benign	Het
Vmn2r88	G	A	14: 51,655,776 (GRCm39)	V662I		Het
Zfp414	C	A	17: 33,850,253 (GRCm39)	D217E	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
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
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'- CAGACACGTTTTGGTGGTGC -3'
(R):5'- TCTGTGTTGCCAAAGCCTTG -3'

Sequencing Primer
(F):5'- TGGTGCAGCTGGTTCAC -3'
(R):5'- TAGCAGAATCCAGCAGTG -3'

Posted On

2019-06-26