Incidental Mutation 'R7001:Mtus2'
| ID |
544537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
045106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R7001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148214438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 28
(E28G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071878]
[ENSMUST00000085558]
[ENSMUST00000110514]
[ENSMUST00000110515]
[ENSMUST00000146425]
|
| AlphaFold |
Q3UHD3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071878
AA Change: E28G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071775
Gene: ENSMUSG00000029651
AA Change: E28G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085558
AA Change: E1033G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: E1033G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
57 |
290 |
2.46e-5 |
PROSPERO |
|
internal_repeat_1
|
312 |
525 |
2.46e-5 |
PROSPERO |
|
low complexity region
|
530 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
818 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
|
coiled coil region
|
1029 |
1080 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
1167 |
1294 |
3e-4 |
SMART |
|
low complexity region
|
1332 |
1349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110514
AA Change: E28G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106143
Gene: ENSMUSG00000029651
AA Change: E28G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110515
AA Change: E28G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106144
Gene: ENSMUSG00000029651
AA Change: E28G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146425
|
| Meta Mutation Damage Score |
0.1966 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,771,272 (GRCm39) |
Q154K |
probably benign |
Het |
| Aldh6a1 |
T |
G |
12: 84,488,662 (GRCm39) |
T75P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,871,230 (GRCm39) |
H98L |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,744,781 (GRCm39) |
F800S |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,091,717 (GRCm39) |
M434K |
possibly damaging |
Het |
| Cap1 |
A |
T |
4: 122,758,408 (GRCm39) |
F257L |
probably benign |
Het |
| Cdt1 |
T |
A |
8: 123,299,249 (GRCm39) |
H510Q |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,533,733 (GRCm39) |
D547E |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,627 (GRCm39) |
V35A |
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,112 (GRCm39) |
N305K |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,712,844 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Ddc |
T |
C |
11: 11,774,870 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,601,681 (GRCm39) |
Y3713F |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,077,041 (GRCm39) |
S504T |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,547,906 (GRCm39) |
F941L |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,547,952 (GRCm39) |
N956S |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,569 (GRCm39) |
H300Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,466 (GRCm39) |
T131A |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,904,798 (GRCm39) |
E890G |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,269 (GRCm39) |
P4334H |
probably damaging |
Het |
| Gcdh |
C |
A |
8: 85,617,540 (GRCm39) |
V227L |
probably benign |
Het |
| Gm8267 |
A |
C |
14: 44,960,385 (GRCm39) |
M120R |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Lasp1 |
T |
G |
11: 97,697,659 (GRCm39) |
H26Q |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,605,155 (GRCm39) |
I297N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,101 (GRCm39) |
N1873K |
unknown |
Het |
| Map2 |
A |
G |
1: 66,454,646 (GRCm39) |
I1179V |
probably benign |
Het |
| Mtss1 |
A |
C |
15: 58,820,183 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,217,320 (GRCm39) |
T2386I |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,337,188 (GRCm39) |
V362L |
probably benign |
Het |
| N6amt1 |
G |
A |
16: 87,151,180 (GRCm39) |
V14M |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,349 (GRCm39) |
|
probably null |
Het |
| Nol6 |
A |
G |
4: 41,121,279 (GRCm39) |
S326P |
probably benign |
Het |
| Olr1 |
T |
A |
6: 129,465,074 (GRCm39) |
E100V |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,428 (GRCm39) |
S56G |
possibly damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,495 (GRCm39) |
S186T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,479 (GRCm39) |
Y119H |
probably damaging |
Het |
| Prb1b |
C |
T |
6: 132,289,527 (GRCm39) |
G99E |
unknown |
Het |
| Ryr2 |
A |
T |
13: 11,809,491 (GRCm39) |
M778K |
probably damaging |
Het |
| Serpina3n |
G |
T |
12: 104,375,184 (GRCm39) |
M85I |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,040,205 (GRCm39) |
V591A |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,053,640 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
C |
T |
5: 22,016,334 (GRCm39) |
V646I |
probably damaging |
Het |
| Slitrk3 |
T |
A |
3: 72,957,942 (GRCm39) |
K277* |
probably null |
Het |
| Sv2c |
A |
G |
13: 96,118,461 (GRCm39) |
S463P |
probably benign |
Het |
| Tbc1d4 |
G |
A |
14: 101,696,185 (GRCm39) |
T858M |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,609,457 (GRCm39) |
I193F |
probably damaging |
Het |
| Tm6sf2 |
A |
C |
8: 70,530,982 (GRCm39) |
D245A |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,239,380 (GRCm39) |
Y234H |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,842,157 (GRCm39) |
S46T |
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,768,468 (GRCm39) |
I587K |
probably benign |
Het |
| Zfp872 |
C |
A |
9: 22,111,912 (GRCm39) |
H464N |
probably damaging |
Het |
|
| Other mutations in Mtus2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Mtus2
|
APN |
5 |
148,013,819 (GRCm39) |
splice site |
probably null |
|
|
IGL01911:Mtus2
|
APN |
5 |
148,015,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01973:Mtus2
|
APN |
5 |
148,240,286 (GRCm39) |
splice site |
probably benign |
|
|
IGL02452:Mtus2
|
APN |
5 |
148,014,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02476:Mtus2
|
APN |
5 |
148,014,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02716:Mtus2
|
APN |
5 |
148,173,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03194:Mtus2
|
APN |
5 |
148,043,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rumblado
|
UTSW |
5 |
148,243,518 (GRCm39) |
nonsense |
probably null |
|
|
IGL02991:Mtus2
|
UTSW |
5 |
148,250,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Mtus2
|
UTSW |
5 |
148,013,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0101:Mtus2
|
UTSW |
5 |
148,019,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Mtus2
|
UTSW |
5 |
148,019,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Mtus2
|
UTSW |
5 |
148,043,829 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0729:Mtus2
|
UTSW |
5 |
148,014,097 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0968:Mtus2
|
UTSW |
5 |
148,014,994 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1231:Mtus2
|
UTSW |
5 |
148,014,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1253:Mtus2
|
UTSW |
5 |
148,240,380 (GRCm39) |
nonsense |
probably null |
|
|
R1556:Mtus2
|
UTSW |
5 |
148,014,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1561:Mtus2
|
UTSW |
5 |
148,013,362 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1574:Mtus2
|
UTSW |
5 |
148,013,362 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1750:Mtus2
|
UTSW |
5 |
148,214,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2318:Mtus2
|
UTSW |
5 |
148,043,892 (GRCm39) |
nonsense |
probably null |
|
|
R2327:Mtus2
|
UTSW |
5 |
148,014,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3153:Mtus2
|
UTSW |
5 |
148,019,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Mtus2
|
UTSW |
5 |
148,240,083 (GRCm39) |
intron |
probably benign |
|
|
R3158:Mtus2
|
UTSW |
5 |
148,168,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Mtus2
|
UTSW |
5 |
148,232,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Mtus2
|
UTSW |
5 |
148,250,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4395:Mtus2
|
UTSW |
5 |
148,013,432 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4396:Mtus2
|
UTSW |
5 |
148,140,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4667:Mtus2
|
UTSW |
5 |
148,235,070 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4887:Mtus2
|
UTSW |
5 |
148,013,913 (GRCm39) |
nonsense |
probably null |
|
|
R4931:Mtus2
|
UTSW |
5 |
148,014,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5097:Mtus2
|
UTSW |
5 |
148,232,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5318:Mtus2
|
UTSW |
5 |
148,013,382 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5372:Mtus2
|
UTSW |
5 |
148,250,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Mtus2
|
UTSW |
5 |
148,243,518 (GRCm39) |
nonsense |
probably null |
|
|
R5622:Mtus2
|
UTSW |
5 |
148,015,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6009:Mtus2
|
UTSW |
5 |
148,243,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Mtus2
|
UTSW |
5 |
148,014,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6409:Mtus2
|
UTSW |
5 |
148,014,425 (GRCm39) |
missense |
probably benign |
|
|
R6527:Mtus2
|
UTSW |
5 |
148,214,408 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6853:Mtus2
|
UTSW |
5 |
148,043,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Mtus2
|
UTSW |
5 |
148,013,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7276:Mtus2
|
UTSW |
5 |
148,013,368 (GRCm39) |
missense |
probably benign |
|
|
R7594:Mtus2
|
UTSW |
5 |
148,014,216 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7790:Mtus2
|
UTSW |
5 |
148,014,998 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7967:Mtus2
|
UTSW |
5 |
148,014,656 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7987:Mtus2
|
UTSW |
5 |
148,168,836 (GRCm39) |
splice site |
probably null |
|
|
R8112:Mtus2
|
UTSW |
5 |
148,013,713 (GRCm39) |
nonsense |
probably null |
|
|
R8273:Mtus2
|
UTSW |
5 |
148,043,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Mtus2
|
UTSW |
5 |
148,240,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Mtus2
|
UTSW |
5 |
148,240,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Mtus2
|
UTSW |
5 |
148,019,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Mtus2
|
UTSW |
5 |
148,015,303 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9204:Mtus2
|
UTSW |
5 |
148,238,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Mtus2
|
UTSW |
5 |
148,014,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9261:Mtus2
|
UTSW |
5 |
148,243,453 (GRCm39) |
nonsense |
probably null |
|
|
R9419:Mtus2
|
UTSW |
5 |
148,243,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Mtus2
|
UTSW |
5 |
148,014,740 (GRCm39) |
missense |
probably benign |
|
|
R9483:Mtus2
|
UTSW |
5 |
148,232,300 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9563:Mtus2
|
UTSW |
5 |
148,250,217 (GRCm39) |
missense |
|
|
|
R9643:Mtus2
|
UTSW |
5 |
148,014,025 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9716:Mtus2
|
UTSW |
5 |
148,013,464 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9745:Mtus2
|
UTSW |
5 |
148,013,311 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
X0017:Mtus2
|
UTSW |
5 |
148,214,410 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0028:Mtus2
|
UTSW |
5 |
148,014,128 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Mtus2
|
UTSW |
5 |
148,240,073 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Mtus2
|
UTSW |
5 |
148,014,068 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Mtus2
|
UTSW |
5 |
148,013,552 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Mtus2
|
UTSW |
5 |
148,140,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACAAATGGATGAGTCTGAC -3'
(R):5'- CGGTAAATGGTCTTCATGTAGGTC -3'
Sequencing Primer
(F):5'- CACAAATGGATGAGTCTGACTTGGTC -3'
(R):5'- GGTCTTCATGTAGGTCCCGCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation