Incidental Mutation 'IGL02632:Mtss1'
ID |
301334 |
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 # |
IGL02632
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58815864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 565
(M565I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079239
(fasta)
|
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 damaging
Transcript: ENSMUST00000080371
AA Change: M565I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079239 Gene: ENSMUSG00000022353 AA Change: M565I
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 benign
Transcript: ENSMUST00000227045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227196
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227290
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
C |
8: 41,208,237 (GRCm39) |
V501A |
possibly damaging |
Het |
Alpl |
T |
G |
4: 137,481,217 (GRCm39) |
N145T |
probably damaging |
Het |
Aqp5 |
T |
A |
15: 99,491,216 (GRCm39) |
|
probably benign |
Het |
Atp1a2 |
T |
A |
1: 172,108,181 (GRCm39) |
D640V |
possibly damaging |
Het |
Atp5po |
T |
C |
16: 91,725,830 (GRCm39) |
E49G |
probably benign |
Het |
Card14 |
A |
G |
11: 119,229,730 (GRCm39) |
D747G |
probably benign |
Het |
Cfap47 |
A |
T |
X: 78,540,279 (GRCm39) |
L553H |
probably damaging |
Het |
Cpz |
A |
T |
5: 35,669,155 (GRCm39) |
D325E |
possibly damaging |
Het |
Crim1 |
T |
C |
17: 78,680,103 (GRCm39) |
I948T |
probably benign |
Het |
Dpysl3 |
A |
T |
18: 43,526,090 (GRCm39) |
S2T |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 39,056,913 (GRCm39) |
V4203A |
probably benign |
Het |
Gapvd1 |
G |
A |
2: 34,574,186 (GRCm39) |
|
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,958,178 (GRCm39) |
R155G |
probably damaging |
Het |
Grpr |
A |
T |
X: 162,298,090 (GRCm39) |
V318E |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,667,861 (GRCm39) |
T569A |
probably benign |
Het |
Il3ra |
G |
A |
14: 14,350,807 (GRCm38) |
|
probably null |
Het |
Llgl2 |
A |
G |
11: 115,735,698 (GRCm39) |
H98R |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,493,628 (GRCm39) |
D663G |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,650,647 (GRCm39) |
N205S |
probably damaging |
Het |
Mamdc2 |
C |
T |
19: 23,308,340 (GRCm39) |
E521K |
probably benign |
Het |
Mapre2 |
A |
G |
18: 23,991,217 (GRCm39) |
M162V |
probably benign |
Het |
Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
Mib2 |
T |
C |
4: 155,740,036 (GRCm39) |
D739G |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,960,583 (GRCm39) |
F772S |
probably damaging |
Het |
Myt1l |
T |
G |
12: 29,964,292 (GRCm39) |
S1077A |
unknown |
Het |
Nalcn |
T |
C |
14: 123,555,265 (GRCm39) |
T873A |
probably benign |
Het |
Nwd1 |
T |
A |
8: 73,394,082 (GRCm39) |
H448Q |
possibly damaging |
Het |
Odad2 |
A |
G |
18: 7,214,727 (GRCm39) |
|
probably benign |
Het |
Or14j3 |
T |
C |
17: 37,901,232 (GRCm39) |
E4G |
probably benign |
Het |
Or51m1 |
A |
G |
7: 103,578,914 (GRCm39) |
I295V |
possibly damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,904 (GRCm39) |
V248A |
probably damaging |
Het |
Palld |
C |
T |
8: 61,968,279 (GRCm39) |
E1096K |
probably damaging |
Het |
Pdcd2 |
A |
G |
17: 15,742,054 (GRCm39) |
V292A |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,153,863 (GRCm39) |
Y477C |
probably damaging |
Het |
Pramel16 |
A |
G |
4: 143,676,507 (GRCm39) |
I199T |
possibly damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,462,131 (GRCm39) |
L254P |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rsl1 |
A |
C |
13: 67,330,227 (GRCm39) |
H225P |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,061,222 (GRCm39) |
I80V |
probably benign |
Het |
Sema6a |
G |
T |
18: 47,423,222 (GRCm39) |
D261E |
probably damaging |
Het |
Serpinb9b |
T |
A |
13: 33,223,806 (GRCm39) |
S333T |
probably benign |
Het |
Slc24a4 |
T |
C |
12: 102,200,941 (GRCm39) |
V277A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,575 (GRCm39) |
H88L |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tmprss15 |
T |
A |
16: 78,782,790 (GRCm39) |
N758I |
probably damaging |
Het |
Ube3b |
C |
T |
5: 114,536,902 (GRCm39) |
A300V |
probably benign |
Het |
Vmn2r82 |
G |
A |
10: 79,192,542 (GRCm39) |
V40I |
probably benign |
Het |
Vsig4 |
G |
T |
X: 95,291,378 (GRCm39) |
Q265K |
probably benign |
Het |
Wdr91 |
T |
C |
6: 34,865,977 (GRCm39) |
D525G |
probably 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 |
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 |
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 |
2015-04-16 |