Incidental Mutation 'R2378:Mtss1l'
| ID | 248350 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Mtss1l
|
|---|
| Ensembl Gene |
ENSMUSG00000033763 |
|---|
| Gene Name | metastasis suppressor 1-like |
|---|
| Synonyms | ABBA |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R2378 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 8 |
|---|
| Chromosomal Location | 110721476-110741400 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 110738349 bp
|
|---|
| 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]
|
|---|
| 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: 21,495,562 |
I86T |
possibly damaging |
Het |
| Akr1cl |
A |
T |
1: 65,021,988 |
M124K |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,254,318 |
L745P |
possibly damaging |
Het |
| B3gnt9 |
G |
A |
8: 105,254,484 |
R91C |
probably damaging |
Het |
| Capg |
C |
T |
6: 72,555,491 |
P13L |
probably benign |
Het |
| Eif3c |
C |
T |
7: 126,552,325 |
R609H |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,218,243 |
H152R |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,080,176 |
D580G |
probably benign |
Het |
| Gm884 |
A |
G |
11: 103,619,711 |
|
probably benign |
Het |
| Iars2 |
A |
G |
1: 185,327,721 |
Y97H |
probably damaging |
Het |
| Ip6k2 |
A |
G |
9: 108,796,301 |
|
probably null |
Het |
| Itih2 |
T |
A |
2: 10,094,887 |
D907V |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,863,477 |
C732R |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,630,808 |
E1175G |
probably damaging |
Het |
| Pgm3 |
A |
T |
9: 86,562,667 |
C272S |
probably damaging |
Het |
| R3hcc1l |
T |
A |
19: 42,563,473 |
I303N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,875,942 |
R137C |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 24,886,950 |
|
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 116,129,950 |
T132I |
probably benign |
Het |
| Tpp2 |
A |
T |
1: 43,999,765 |
E223V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,889,450 |
|
probably benign |
Het |
| Vmn2r102 |
T |
G |
17: 19,694,668 |
L832V |
probably damaging |
Het |
|
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| Other mutations in Mtss1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02124:Mtss1l
|
APN |
8 |
110737624 |
missense |
probably damaging |
1.00 |
|
R0620:Mtss1l
|
UTSW |
8 |
110737948 |
missense |
probably damaging |
0.98 |
|
R0685:Mtss1l
|
UTSW |
8 |
110727397 |
critical splice donor site |
probably null |
|
|
R2082:Mtss1l
|
UTSW |
8 |
110726257 |
critical splice donor site |
probably null |
|
|
R2149:Mtss1l
|
UTSW |
8 |
110726383 |
missense |
possibly damaging |
0.58 |
|
R2266:Mtss1l
|
UTSW |
8 |
110728730 |
missense |
possibly damaging |
0.80 |
|
R2267:Mtss1l
|
UTSW |
8 |
110728730 |
missense |
possibly damaging |
0.80 |
|
R2269:Mtss1l
|
UTSW |
8 |
110728730 |
missense |
possibly damaging |
0.80 |
|
R3756:Mtss1l
|
UTSW |
8 |
110730060 |
missense |
probably damaging |
1.00 |
|
R4005:Mtss1l
|
UTSW |
8 |
110739041 |
frame shift |
probably null |
|
|
R4552:Mtss1l
|
UTSW |
8 |
110738505 |
missense |
probably damaging |
1.00 |
|
R4553:Mtss1l
|
UTSW |
8 |
110738505 |
missense |
probably damaging |
1.00 |
|
R4849:Mtss1l
|
UTSW |
8 |
110726243 |
missense |
possibly damaging |
0.92 |
|
R5212:Mtss1l
|
UTSW |
8 |
110729218 |
missense |
probably damaging |
1.00 |
|
R6294:Mtss1l
|
UTSW |
8 |
110727328 |
missense |
possibly damaging |
0.89 |
|
R6336:Mtss1l
|
UTSW |
8 |
110732164 |
missense |
probably damaging |
1.00 |
|
R7090:Mtss1l
|
UTSW |
8 |
110730024 |
missense |
probably damaging |
1.00 |
|
R7580:Mtss1l
|
UTSW |
8 |
110737636 |
missense |
possibly damaging |
0.95 |
|
R7581:Mtss1l
|
UTSW |
8 |
110726213 |
missense |
possibly damaging |
0.92 |
|
R7810:Mtss1l
|
UTSW |
8 |
110726201 |
missense |
probably damaging |
0.99 |
|
R8497:Mtss1l
|
UTSW |
8 |
110738590 |
missense |
possibly damaging |
0.95 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCTAGGCCTTCACAGCC -3'
(R):5'- TGTAGAAGACGCACTCCTCAC -3'
Sequencing Primer
(F):5'- CTTCACAGCCCCGGGAC -3'
(R):5'- TCTTCACAGGGACGATGGG -3'
|
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| Posted On | 2014-11-11 |
|---|
