Incidental Mutation 'IGL03012:Mtss1'
| ID |
407808 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtss1
|
| Ensembl Gene |
ENSMUSG00000022353 |
| Gene Name |
MTSS I-BAR domain containing 1 |
| Synonyms |
2310003N14Rik, D130001D01Rik, MIM |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
IGL03012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58930249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 32
(D32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080371]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080371
AA Change: D32A
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079239
Gene: ENSMUSG00000022353
AA Change: D32A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
16 |
241 |
2.1e-107 |
PFAM |
|
low complexity region
|
257 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
628 |
N/A |
INTRINSIC |
|
WH2
|
731 |
748 |
1.36e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228655
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit polycystic kidney in 50% of mice by 5 months of age. Mouse embryonic fibroblasts from mice homozygous for a different gene trap allele exhibit altered cell morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
C |
9: 118,986,014 (GRCm39) |
S17A |
probably benign |
Het |
| Acp1 |
T |
G |
12: 30,945,948 (GRCm39) |
N135T |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,667,096 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
C |
T |
2: 166,710,808 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,085,482 (GRCm39) |
I287N |
probably damaging |
Het |
| Camta1 |
T |
A |
4: 151,537,756 (GRCm39) |
K141N |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,355 (GRCm39) |
D719G |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,666,229 (GRCm39) |
H1086Q |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,670,300 (GRCm39) |
|
probably null |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,816 (GRCm39) |
Y197C |
probably damaging |
Het |
| Il13ra1 |
G |
T |
X: 35,394,247 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,733 (GRCm39) |
P111S |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,722,263 (GRCm39) |
|
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,339,348 (GRCm39) |
S57P |
possibly damaging |
Het |
| Mylk |
G |
A |
16: 34,773,151 (GRCm39) |
D1250N |
probably benign |
Het |
| Ncln |
A |
G |
10: 81,325,799 (GRCm39) |
F349L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,572,572 (GRCm39) |
|
probably benign |
Het |
| Rarres2 |
T |
C |
6: 48,547,239 (GRCm39) |
D107G |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,637,925 (GRCm39) |
D276G |
probably benign |
Het |
| Trim54 |
A |
G |
5: 31,294,489 (GRCm39) |
D339G |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,850,195 (GRCm39) |
H1005Y |
probably damaging |
Het |
| Tulp4 |
G |
T |
17: 6,263,654 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
C |
T |
17: 13,328,495 (GRCm39) |
E453K |
probably benign |
Het |
| Vmn1r181 |
A |
T |
7: 23,684,027 (GRCm39) |
D164V |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,291 (GRCm39) |
S301T |
probably benign |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,692 (GRCm39) |
N151D |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,197,865 (GRCm39) |
K2008E |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,691 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
G |
A |
2: 91,478,153 (GRCm39) |
A41V |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,196,545 (GRCm39) |
S207G |
probably benign |
Het |
|
| Other mutations in Mtss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Mtss1
|
APN |
15 |
58,823,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00693:Mtss1
|
APN |
15 |
58,815,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00817:Mtss1
|
APN |
15 |
58,815,481 (GRCm39) |
splice site |
probably null |
|
|
IGL00923:Mtss1
|
APN |
15 |
58,815,348 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01704:Mtss1
|
APN |
15 |
58,926,932 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02257:Mtss1
|
APN |
15 |
58,828,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Mtss1
|
APN |
15 |
58,815,864 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02829:Mtss1
|
APN |
15 |
58,930,277 (GRCm39) |
splice site |
probably benign |
|
|
IGL02838:Mtss1
|
APN |
15 |
58,953,364 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02968:Mtss1
|
APN |
15 |
58,828,364 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03022:Mtss1
|
APN |
15 |
58,825,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Mtss1
|
UTSW |
15 |
58,815,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0498:Mtss1
|
UTSW |
15 |
58,817,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Mtss1
|
UTSW |
15 |
58,828,387 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0655:Mtss1
|
UTSW |
15 |
58,953,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Mtss1
|
UTSW |
15 |
58,842,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1428:Mtss1
|
UTSW |
15 |
58,819,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1503:Mtss1
|
UTSW |
15 |
58,823,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Mtss1
|
UTSW |
15 |
58,815,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Mtss1
|
UTSW |
15 |
58,930,249 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3689:Mtss1
|
UTSW |
15 |
58,825,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Mtss1
|
UTSW |
15 |
58,953,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4811:Mtss1
|
UTSW |
15 |
58,815,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Mtss1
|
UTSW |
15 |
58,815,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Mtss1
|
UTSW |
15 |
58,842,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Mtss1
|
UTSW |
15 |
58,815,373 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6253:Mtss1
|
UTSW |
15 |
58,815,568 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6767:Mtss1
|
UTSW |
15 |
58,825,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6890:Mtss1
|
UTSW |
15 |
58,823,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Mtss1
|
UTSW |
15 |
58,820,183 (GRCm39) |
intron |
probably benign |
|
|
R7502:Mtss1
|
UTSW |
15 |
58,820,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7722:Mtss1
|
UTSW |
15 |
58,926,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Mtss1
|
UTSW |
15 |
58,842,858 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7888:Mtss1
|
UTSW |
15 |
58,844,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Mtss1
|
UTSW |
15 |
58,826,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Mtss1
|
UTSW |
15 |
58,926,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mtss1
|
UTSW |
15 |
58,817,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation