Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Twsg1'

350715

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

040944-MU

Accession Numbers

Essential gene?

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

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66230060-66258198 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66236758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000024906 (fasta)

Gene Model

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

AlphaFold

Q9EP52

Predicted Effect

probably benign
Transcript: ENSMUST00000024906
AA Change: T91A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098
AA Change: T91A

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

0.0963

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,220 (GRCm39)	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,644,713 (GRCm39)	I821V	probably benign	Het
Adam34	G	A	8: 44,103,806 (GRCm39)	T613I	probably benign	Het
Ap2b1	C	T	11: 83,281,542 (GRCm39)	T816M	probably damaging	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cdc23	C	A	18: 34,770,539 (GRCm39)		probably benign	Het
Chrna2	G	T	14: 66,386,906 (GRCm39)	V351L	probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,101,962 (GRCm39)	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,034,699 (GRCm39)	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 24,119,547 (GRCm39)	Y120*	probably null	Het
Ddx11	C	T	17: 66,441,125 (GRCm39)	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,272,871 (GRCm39)	V2333E	possibly damaging	Het
Duxf4	T	A	10: 58,071,623 (GRCm39)	N197I	possibly damaging	Het
Eno3	T	A	11: 70,552,237 (GRCm39)	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Gdap1	T	G	1: 17,230,131 (GRCm39)		probably benign	Het
Gm1587	C	T	14: 78,032,283 (GRCm39)	E118K	unknown	Het
Gprin3	T	C	6: 59,331,545 (GRCm39)	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,652,679 (GRCm39)	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,167,657 (GRCm39)	Y175N	probably benign	Het
Hydin	G	A	8: 111,118,957 (GRCm39)	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,485,823 (GRCm39)	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,559,042 (GRCm39)	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,743,927 (GRCm39)		probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Msr1	A	G	8: 40,073,059 (GRCm39)	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,337,996 (GRCm39)	V646A	probably damaging	Het
Mybpc3	A	T	2: 90,965,714 (GRCm39)	K1175N	probably benign	Het
Myo1c	T	A	11: 75,552,325 (GRCm39)	L366Q	probably benign	Het
Or12d15	T	C	17: 37,694,289 (GRCm39)	V277A	possibly damaging	Het
Or1e22	A	G	11: 73,376,961 (GRCm39)	S230P	possibly damaging	Het
Or6f1	A	G	7: 85,970,942 (GRCm39)	Y73H	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pde4d	A	G	13: 109,876,940 (GRCm39)	T29A	probably benign	Het
Rapgef5	A	G	12: 117,692,405 (GRCm39)	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Rnf44	A	C	13: 54,830,961 (GRCm39)	S98R	probably damaging	Het
Samhd1	C	A	2: 156,965,369 (GRCm39)	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,238,644 (GRCm39)	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,073,591 (GRCm39)	N813S	probably benign	Het
Sirt3	A	T	7: 140,458,025 (GRCm39)	C41*	probably null	Het
Speg	C	A	1: 75,399,191 (GRCm39)	P2213T	probably benign	Het
Srcin1	T	G	11: 97,416,379 (GRCm39)	E951A	probably damaging	Het
Syn2	C	G	6: 115,214,259 (GRCm39)	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,744,649 (GRCm39)	T326A	probably benign	Het
Tcstv2a	G	T	13: 120,725,815 (GRCm39)	A160S	possibly damaging	Het
Tes	T	A	6: 17,099,700 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Tln1	T	C	4: 43,553,030 (GRCm39)	T354A	probably damaging	Het
Ttn	G	T	2: 76,632,705 (GRCm39)	S12370R	possibly damaging	Het
Vmn1r181	C	T	7: 23,684,234 (GRCm39)	T233I	probably benign	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,116,678 (GRCm39)	C56F	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
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'- CAGACACGTTTTGGTGGTGC -3'
(R):5'- TCTGTGTTGCCAAAGCCTTG -3'

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

Posted On

2015-10-08