Incidental Mutation 'IGL03022:Mtss1'
ID |
408014 |
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 # |
IGL03022
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58825439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 254
(S254P)
|
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: S254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079239 Gene: ENSMUSG00000022353 AA Change: S254P
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 |
noncoding transcript
Transcript: ENSMUST00000227238
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227290
|
Predicted Effect |
unknown
Transcript: ENSMUST00000228067
AA Change: S57P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228365
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
Dynlt5 |
A |
G |
4: 102,859,714 (GRCm39) |
T85A |
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
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 |
IGL03012:Mtss1
|
APN |
15 |
58,930,249 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |