Incidental Mutation 'R4005:Mtss2'
| ID |
311432 |
| 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 # |
R4005 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
111448108-111468032 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CG to CGG
at 111465673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115220
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052457]
[ENSMUST00000076846]
[ENSMUST00000144041]
[ENSMUST00000150680]
|
| AlphaFold |
Q6P9S0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052457
|
| SMART Domains |
Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
| 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 null
Transcript: ENSMUST00000144041
|
| SMART Domains |
Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
| 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: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,868 (GRCm39) |
T348A |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,875,390 (GRCm39) |
A530T |
probably damaging |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Ddx28 |
C |
G |
8: 106,737,560 (GRCm39) |
R166P |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mcm10 |
G |
T |
2: 5,005,814 (GRCm39) |
S440R |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,245,774 (GRCm39) |
D490E |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
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 |
|
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'- CAGCCTAGTAGAGAAGCTTGG -3'
(R):5'- AAAACAGGCTCTGTCCTGGC -3'
Sequencing Primer
(F):5'- CTTGGGGAGCTGGTGGCC -3'
(R):5'- CAGCCTGGTTGTCTTTCCGTAAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation