Incidental Mutation 'IGL00817:Mtss1'
ID |
12130 |
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: 0.835)
|
Stock # |
IGL00817
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
Type of Mutation |
splice site (2353 bp from exon) |
DNA Base Change (assembly) |
G to A
at 58815481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022980]
[ENSMUST00000080371]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022980
|
SMART Domains |
Protein: ENSMUSP00000022980 Gene: ENSMUSG00000022354
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
13 |
73 |
1.2e-11 |
PFAM |
Pfam:Complex1_LYR_1
|
14 |
74 |
5.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080371
AA Change: A693V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000079239 Gene: ENSMUSG00000022353 AA Change: A693V
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: ENSMUST00000226393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226976
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227045
|
Predicted Effect |
probably null
Transcript: ENSMUST00000227196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227290
|
Predicted Effect |
probably null
Transcript: ENSMUST00000228067
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abracl |
A |
T |
10: 17,887,379 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
T |
C |
3: 97,112,460 (GRCm39) |
M1332V |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,242,259 (GRCm39) |
Y465C |
probably damaging |
Het |
Dock9 |
G |
T |
14: 121,935,703 (GRCm39) |
T8K |
probably damaging |
Het |
Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Homez |
G |
A |
14: 55,094,575 (GRCm39) |
R27* |
probably null |
Het |
Ifnlr1 |
A |
G |
4: 135,431,596 (GRCm39) |
T262A |
probably benign |
Het |
Kif1c |
A |
G |
11: 70,596,079 (GRCm39) |
D231G |
probably benign |
Het |
Lipe |
T |
C |
7: 25,087,874 (GRCm39) |
D62G |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,249,430 (GRCm39) |
K510R |
probably benign |
Het |
Neb |
T |
C |
2: 52,133,207 (GRCm39) |
K3444E |
probably damaging |
Het |
Pcdha12 |
C |
A |
18: 37,154,986 (GRCm39) |
H568Q |
probably benign |
Het |
Pck1 |
T |
C |
2: 172,995,225 (GRCm39) |
V15A |
possibly damaging |
Het |
Polr2h |
T |
C |
16: 20,540,655 (GRCm39) |
|
probably benign |
Het |
Psmb8 |
G |
A |
17: 34,419,703 (GRCm39) |
V186I |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,770,129 (GRCm39) |
Y750H |
probably benign |
Het |
Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Trim67 |
T |
C |
8: 125,541,799 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
Wdr4 |
A |
G |
17: 31,720,232 (GRCm39) |
L240P |
possibly damaging |
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 |
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 |
IGL03012:Mtss1
|
APN |
15 |
58,930,249 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2012-12-06 |