Incidental Mutation 'R2378:Mtss2'
| ID |
248350 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2378 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111448108-111468032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111464981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 474
(F474L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052457]
[ENSMUST00000076846]
[ENSMUST00000144041]
[ENSMUST00000150680]
|
| AlphaFold |
Q6P9S0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052457
AA Change: F474L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: F474L
| 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: F412L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: F412L
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AK157302 |
T |
C |
13: 21,679,732 (GRCm39) |
I86T |
possibly damaging |
Het |
| Akr1cl |
A |
T |
1: 65,061,147 (GRCm39) |
M124K |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,304,319 (GRCm39) |
L745P |
possibly damaging |
Het |
| B3gnt9 |
G |
A |
8: 105,981,116 (GRCm39) |
R91C |
probably damaging |
Het |
| Capg |
C |
T |
6: 72,532,474 (GRCm39) |
P13L |
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,151,497 (GRCm39) |
R609H |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,993 (GRCm39) |
H152R |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,042 (GRCm39) |
D580G |
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,059,918 (GRCm39) |
Y97H |
probably damaging |
Het |
| Ip6k2 |
A |
G |
9: 108,673,500 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
A |
2: 10,099,698 (GRCm39) |
D907V |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,510,537 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,569,114 (GRCm39) |
C732R |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,876 (GRCm39) |
E1175G |
probably damaging |
Het |
| Pgm3 |
A |
T |
9: 86,444,720 (GRCm39) |
C272S |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,551,912 (GRCm39) |
I303N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,105,924 (GRCm39) |
|
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,959,018 (GRCm39) |
T132I |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 44,038,925 (GRCm39) |
E223V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
G |
17: 19,914,930 (GRCm39) |
L832V |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCTAGGCCTTCACAGCC -3'
(R):5'- TGTAGAAGACGCACTCCTCAC -3'
Sequencing Primer
(F):5'- CTTCACAGCCCCGGGAC -3'
(R):5'- TCTTCACAGGGACGATGGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation