Incidental Mutation 'IGL02257:Mtss1'
ID |
286634 |
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 # |
IGL02257
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
58813083-58953854 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58828394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
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: V173A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079239 Gene: ENSMUSG00000022353 AA Change: V173A
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 |
probably benign
Transcript: ENSMUST00000228067
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
C |
T |
11: 116,486,535 (GRCm39) |
Q25* |
probably null |
Het |
Adam8 |
A |
T |
7: 139,567,561 (GRCm39) |
V394D |
possibly damaging |
Het |
Ahnak2 |
A |
G |
12: 112,748,905 (GRCm39) |
F314S |
possibly damaging |
Het |
Arsg |
T |
C |
11: 109,412,473 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
T |
G |
4: 140,733,400 (GRCm39) |
V958G |
probably benign |
Het |
Ces5a |
T |
C |
8: 94,252,226 (GRCm39) |
D218G |
probably benign |
Het |
Cntnap4 |
T |
A |
8: 113,343,126 (GRCm39) |
L63Q |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,145,606 (GRCm39) |
T655A |
possibly damaging |
Het |
Ddc |
A |
T |
11: 11,823,171 (GRCm39) |
L133* |
probably null |
Het |
Fat4 |
C |
T |
3: 39,055,288 (GRCm39) |
A4169V |
probably benign |
Het |
Gnpat |
T |
C |
8: 125,613,587 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
A |
G |
2: 57,254,536 (GRCm39) |
D678G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,107,422 (GRCm39) |
D851G |
probably benign |
Het |
Hsd11b2 |
G |
A |
8: 106,249,854 (GRCm39) |
V322I |
probably benign |
Het |
Hsd17b3 |
G |
A |
13: 64,207,276 (GRCm39) |
T255M |
probably benign |
Het |
Hsp90b1 |
T |
C |
10: 86,534,453 (GRCm39) |
S284G |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,071,096 (GRCm39) |
I69L |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,249,625 (GRCm39) |
T200I |
possibly damaging |
Het |
Morn3 |
T |
G |
5: 123,175,788 (GRCm39) |
D200A |
probably damaging |
Het |
Myl6b |
T |
C |
10: 128,333,210 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
G |
12: 70,149,465 (GRCm39) |
V48A |
possibly damaging |
Het |
Odr4 |
A |
T |
1: 150,262,155 (GRCm39) |
I95N |
probably damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,629 (GRCm39) |
V279I |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Phlpp2 |
T |
A |
8: 110,646,731 (GRCm39) |
V529E |
possibly damaging |
Het |
Pnlip |
G |
A |
19: 58,662,306 (GRCm39) |
V151I |
probably benign |
Het |
Pus7 |
A |
C |
5: 23,967,459 (GRCm39) |
H247Q |
probably damaging |
Het |
Setd6 |
T |
C |
8: 96,443,320 (GRCm39) |
Y188H |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,061,328 (GRCm39) |
S444P |
probably benign |
Het |
Sox9 |
C |
A |
11: 112,675,811 (GRCm39) |
H333Q |
possibly damaging |
Het |
Specc1 |
T |
A |
11: 62,009,243 (GRCm39) |
I333N |
probably damaging |
Het |
Tmprss11e |
G |
A |
5: 86,872,039 (GRCm39) |
T59I |
probably damaging |
Het |
Vmn2r93 |
A |
C |
17: 18,545,770 (GRCm39) |
|
probably benign |
Het |
Vrk2 |
A |
T |
11: 26,484,266 (GRCm39) |
V163D |
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 |
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 |
2015-04-16 |