Incidental Mutation 'IGL02124:Mtss2'
| ID |
280760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtss2
|
| Ensembl Gene |
ENSMUSG00000033763 |
| Gene Name |
MTSS I-BAR domain containing 2 |
| Synonyms |
Mtss1l, ABBA |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111448108-111468032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111464256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 295
(R295Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052457]
[ENSMUST00000076846]
[ENSMUST00000144041]
[ENSMUST00000150680]
|
| AlphaFold |
Q6P9S0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052457
AA Change: R357Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: R357Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
15 |
236 |
8.1e-108 |
PFAM |
|
low complexity region
|
252 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
690 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076846
|
| SMART Domains |
Protein: ENSMUSP00000076120
Gene: ENSMUSG00000031750
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:IL34
|
28 |
184 |
2e-79 |
PFAM |
|
low complexity region
|
219 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133848
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141302
AA Change: R274Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763
AA Change: R274Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
1 |
122 |
1e-56 |
PFAM |
|
low complexity region
|
138 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144041
AA Change: R295Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: R295Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
1 |
174 |
3.6e-72 |
PFAM |
|
low complexity region
|
190 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149273
AA Change: R279Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763
AA Change: R279Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IMD
|
1 |
126 |
2.5e-59 |
PFAM |
|
low complexity region
|
142 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150680
|
| SMART Domains |
Protein: ENSMUSP00000114398
Gene: ENSMUSG00000031750
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:IL34
|
23 |
155 |
4.6e-64 |
PFAM |
|
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154803
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
C |
2: 127,028,654 (GRCm39) |
R182G |
possibly damaging |
Het |
| Casd1 |
A |
T |
6: 4,624,142 (GRCm39) |
I312F |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,413,557 (GRCm39) |
T395A |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,405,381 (GRCm39) |
I1717T |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,992,488 (GRCm39) |
V321E |
possibly damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,886,832 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,327,099 (GRCm39) |
F1416L |
unknown |
Het |
| Cplx4 |
T |
C |
18: 66,103,123 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,386,648 (GRCm39) |
I1539N |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,878,696 (GRCm39) |
T562A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,819,845 (GRCm39) |
V1433F |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,251 (GRCm39) |
L436P |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,117,841 (GRCm39) |
I783V |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,942,553 (GRCm39) |
V482E |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,734,927 (GRCm39) |
E400V |
probably benign |
Het |
| Folh1 |
T |
C |
7: 86,374,626 (GRCm39) |
D656G |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,723 (GRCm39) |
D672A |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,221,106 (GRCm39) |
M3T |
possibly damaging |
Het |
| Gm973 |
C |
T |
1: 59,621,632 (GRCm39) |
Q26* |
probably null |
Het |
| Hsp90b1 |
T |
C |
10: 86,541,222 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,246,125 (GRCm39) |
|
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,737,753 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
T |
7: 141,409,369 (GRCm39) |
W1151L |
unknown |
Het |
| Myo3a |
A |
G |
2: 22,467,538 (GRCm39) |
Y264C |
probably benign |
Het |
| Or4c123 |
A |
G |
2: 89,127,407 (GRCm39) |
V69A |
probably benign |
Het |
| Or55b3 |
T |
C |
7: 102,126,742 (GRCm39) |
T112A |
possibly damaging |
Het |
| Or5p60 |
T |
A |
7: 107,724,249 (GRCm39) |
I74L |
probably benign |
Het |
| Pecam1 |
C |
T |
11: 106,581,807 (GRCm39) |
G380S |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,179,767 (GRCm39) |
T345I |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,109,485 (GRCm39) |
S444L |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,401,027 (GRCm39) |
Y486H |
probably damaging |
Het |
| Scg5 |
G |
A |
2: 113,622,382 (GRCm39) |
|
probably benign |
Het |
| Septin5 |
G |
T |
16: 18,443,579 (GRCm39) |
D123E |
probably damaging |
Het |
| Skint6 |
G |
A |
4: 112,944,993 (GRCm39) |
T483I |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,091,581 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,982,547 (GRCm39) |
R440G |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,959,947 (GRCm39) |
V649E |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,040,019 (GRCm39) |
Q1500K |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,568 (GRCm39) |
S116G |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
probably benign |
Het |
|
| Other mutations in Mtss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0620:Mtss2
|
UTSW |
8 |
111,464,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0685:Mtss2
|
UTSW |
8 |
111,454,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2082:Mtss2
|
UTSW |
8 |
111,452,889 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2149:Mtss2
|
UTSW |
8 |
111,453,015 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2266:Mtss2
|
UTSW |
8 |
111,455,362 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2267:Mtss2
|
UTSW |
8 |
111,455,362 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2269:Mtss2
|
UTSW |
8 |
111,455,362 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2378:Mtss2
|
UTSW |
8 |
111,464,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3756:Mtss2
|
UTSW |
8 |
111,456,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4005:Mtss2
|
UTSW |
8 |
111,465,673 (GRCm39) |
frame shift |
probably null |
|
|
R4552:Mtss2
|
UTSW |
8 |
111,465,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4553:Mtss2
|
UTSW |
8 |
111,465,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Mtss2
|
UTSW |
8 |
111,452,875 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5212:Mtss2
|
UTSW |
8 |
111,455,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Mtss2
|
UTSW |
8 |
111,453,960 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6336:Mtss2
|
UTSW |
8 |
111,458,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Mtss2
|
UTSW |
8 |
111,456,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7580:Mtss2
|
UTSW |
8 |
111,464,268 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7581:Mtss2
|
UTSW |
8 |
111,452,845 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7810:Mtss2
|
UTSW |
8 |
111,452,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8497:Mtss2
|
UTSW |
8 |
111,465,222 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9033:Mtss2
|
UTSW |
8 |
111,465,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Mtss2
|
UTSW |
8 |
111,458,689 (GRCm39) |
missense |
|
|
|
R9640:Mtss2
|
UTSW |
8 |
111,464,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9796:Mtss2
|
UTSW |
8 |
111,456,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation