Incidental Mutation 'R4553:Mtss2'
| ID |
341784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtss2
|
| Ensembl Gene |
ENSMUSG00000033763 |
| Gene Name |
MTSS I-BAR domain containing 2 |
| Synonyms |
Mtss1l, ABBA |
| MMRRC Submission |
041595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111448108-111468032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111465137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 464
(T464A)
|
| 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: T526A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: T526A
| 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 benign
Transcript: ENSMUST00000141302
|
| SMART Domains |
Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763
| 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: T464A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: T464A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763
| 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
|
| Meta Mutation Damage Score |
0.1610 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
T |
C |
5: 114,951,254 (GRCm39) |
Y49C |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,716,912 (GRCm39) |
T32A |
probably damaging |
Het |
| Adra2a |
T |
C |
19: 54,035,166 (GRCm39) |
V174A |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| Cand2 |
C |
A |
6: 115,769,172 (GRCm39) |
R661S |
probably damaging |
Het |
| Cd274 |
T |
C |
19: 29,357,848 (GRCm39) |
V180A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,298,229 (GRCm39) |
T157A |
probably benign |
Het |
| Cts6 |
G |
A |
13: 61,345,407 (GRCm39) |
P230L |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,130,877 (GRCm39) |
Y3C |
possibly damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Garin1a |
A |
G |
6: 29,287,705 (GRCm39) |
I210M |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,200,200 (GRCm39) |
C130S |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,717 (GRCm39) |
V188A |
probably damaging |
Het |
| Iqsec2 |
A |
G |
X: 150,994,277 (GRCm39) |
H585R |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,622,910 (GRCm39) |
L842P |
probably damaging |
Het |
| Kif3a |
C |
A |
11: 53,469,745 (GRCm39) |
L119I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,629 (GRCm39) |
D910G |
probably benign |
Het |
| Lyve1 |
T |
C |
7: 110,451,567 (GRCm39) |
|
probably null |
Het |
| Mx2 |
A |
G |
16: 97,353,205 (GRCm39) |
T398A |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,404 (GRCm39) |
M297T |
probably benign |
Het |
| Nog |
A |
G |
11: 89,192,248 (GRCm39) |
L200P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Phf11b |
G |
A |
14: 59,578,734 (GRCm39) |
P11S |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Pld1 |
G |
T |
3: 28,178,851 (GRCm39) |
R915L |
probably benign |
Het |
| Sell |
C |
T |
1: 163,899,685 (GRCm39) |
T34I |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,559,874 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,667,663 (GRCm39) |
V432A |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,661,015 (GRCm39) |
T700A |
probably benign |
Het |
|
| Other mutations in Mtss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02124:Mtss2
|
APN |
8 |
111,464,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTACGACTGCTACTCTGTGAATG -3'
(R):5'- AAAGGTGAGGCCACTTCGTC -3'
Sequencing Primer
(F):5'- CTACTCTGTGAATGGGGATGCAGAC -3'
(R):5'- TCTGTGTAGAAGACGCACTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation