Incidental Mutation 'R4447:Twsg1'
| ID |
328814 |
| 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 |
041708-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R4447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,460,185 (GRCm39) |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,486,483 (GRCm39) |
V120A |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,726,948 (GRCm39) |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,591,923 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,447,014 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,061,998 (GRCm39) |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,412 (GRCm39) |
I90V |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,941 (GRCm39) |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,837,997 (GRCm39) |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,118,662 (GRCm39) |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,399,534 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,512,153 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
T |
A |
8: 85,957,995 (GRCm39) |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,120 (GRCm39) |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,559,434 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,693 (GRCm39) |
D197G |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,012 (GRCm39) |
T603A |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,324,634 (GRCm39) |
T1479I |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,792,021 (GRCm39) |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,369 (GRCm39) |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,159,277 (GRCm39) |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,580,819 (GRCm39) |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,895,529 (GRCm39) |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,000,367 (GRCm39) |
|
probably null |
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 |
|
|
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'- TAGCAGAATCCAGCAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation