Incidental Mutation 'R7594:Mtus2'
ID |
587619 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus2
|
Ensembl Gene |
ENSMUSG00000029651 |
Gene Name |
microtubule associated tumor suppressor candidate 2 |
Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
MMRRC Submission |
045670-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R7594 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 148014216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 336
(R336S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085558]
[ENSMUST00000129092]
|
AlphaFold |
Q3UHD3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085558
AA Change: R336S
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000082694 Gene: ENSMUSG00000029651 AA Change: R336S
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 benign
Transcript: ENSMUST00000129092
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,384,213 (GRCm39) |
|
probably null |
Het |
Acvr2a |
T |
A |
2: 48,784,749 (GRCm39) |
L345* |
probably null |
Het |
App |
T |
C |
16: 84,876,890 (GRCm39) |
D167G |
unknown |
Het |
Arhgef33 |
A |
G |
17: 80,677,734 (GRCm39) |
D427G |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,288,875 (GRCm39) |
S1675P |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,808,935 (GRCm39) |
Y985C |
|
Het |
AW209491 |
A |
G |
13: 14,811,831 (GRCm39) |
D228G |
probably benign |
Het |
Casc3 |
G |
A |
11: 98,712,311 (GRCm39) |
A117T |
probably benign |
Het |
Cass4 |
C |
T |
2: 172,271,568 (GRCm39) |
P645S |
probably benign |
Het |
Ccar2 |
A |
T |
14: 70,379,243 (GRCm39) |
Y553* |
probably null |
Het |
Cox16 |
A |
T |
12: 81,521,352 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
A |
T |
19: 37,151,551 (GRCm39) |
V275E |
possibly damaging |
Het |
Dido1 |
A |
G |
2: 180,316,905 (GRCm39) |
V634A |
probably benign |
Het |
Dnajb1 |
G |
A |
8: 84,336,473 (GRCm39) |
S81N |
probably benign |
Het |
Dst |
A |
G |
1: 34,252,094 (GRCm39) |
K2262E |
probably damaging |
Het |
Eya3 |
T |
C |
4: 132,422,136 (GRCm39) |
V237A |
probably benign |
Het |
Fbxo31 |
T |
A |
8: 122,279,107 (GRCm39) |
D460V |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
Gabrg3 |
A |
T |
7: 56,632,443 (GRCm39) |
N168K |
possibly damaging |
Het |
Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
Gm10134 |
T |
C |
2: 28,396,372 (GRCm39) |
M89T |
unknown |
Het |
Kif17 |
T |
C |
4: 138,005,236 (GRCm39) |
L267P |
probably damaging |
Het |
Ksr2 |
C |
A |
5: 117,693,131 (GRCm39) |
T193N |
possibly damaging |
Het |
Lmtk2 |
T |
C |
5: 144,110,564 (GRCm39) |
L428P |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,696,359 (GRCm39) |
L1247F |
probably benign |
Het |
Med24 |
T |
C |
11: 98,605,923 (GRCm39) |
Y323C |
probably damaging |
Het |
Mthfd2 |
A |
G |
6: 83,283,665 (GRCm39) |
V339A |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,556,358 (GRCm39) |
T3312A |
unknown |
Het |
Nacad |
A |
G |
11: 6,552,457 (GRCm39) |
S245P |
probably damaging |
Het |
Nacc1 |
T |
C |
8: 85,401,631 (GRCm39) |
D394G |
probably damaging |
Het |
Nfatc2 |
A |
G |
2: 168,365,268 (GRCm39) |
V582A |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,818,791 (GRCm39) |
D428E |
probably benign |
Het |
Or10ag57 |
A |
G |
2: 87,218,613 (GRCm39) |
H188R |
probably damaging |
Het |
Or4a80 |
T |
A |
2: 89,582,906 (GRCm39) |
T89S |
probably benign |
Het |
Or56a4 |
A |
G |
7: 104,806,880 (GRCm39) |
L3S |
probably benign |
Het |
Osbpl5 |
A |
T |
7: 143,247,534 (GRCm39) |
L768Q |
probably benign |
Het |
Plch2 |
C |
T |
4: 155,091,484 (GRCm39) |
V210I |
probably damaging |
Het |
Plekhh1 |
C |
T |
12: 79,123,277 (GRCm39) |
T1153I |
possibly damaging |
Het |
Ppp1r14c |
T |
C |
10: 3,316,670 (GRCm39) |
S2P |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,286 (GRCm39) |
I69N |
probably damaging |
Het |
Psmd5 |
G |
T |
2: 34,750,741 (GRCm39) |
H239Q |
probably benign |
Het |
Ptcd2 |
C |
A |
13: 99,456,790 (GRCm39) |
A345S |
possibly damaging |
Het |
Sap30l |
G |
A |
11: 57,700,947 (GRCm39) |
|
probably null |
Het |
Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
Slc2a9 |
A |
G |
5: 38,508,634 (GRCm39) |
I470T |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,165,190 (GRCm39) |
|
probably null |
Het |
Tg |
T |
A |
15: 66,601,432 (GRCm39) |
D1766E |
probably benign |
Het |
Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
Tlr6 |
T |
C |
5: 65,110,594 (GRCm39) |
Y771C |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,508 (GRCm39) |
V670E |
possibly damaging |
Het |
Top2b |
A |
G |
14: 16,428,587 (GRCm38) |
T1522A |
probably benign |
Het |
Tpcn1 |
A |
G |
5: 120,694,595 (GRCm39) |
M158T |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,557,186 (GRCm39) |
I29940V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,581,698 (GRCm39) |
T23065I |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,173,779 (GRCm39) |
S20G |
probably benign |
Het |
Uts2r |
G |
T |
11: 121,052,191 (GRCm39) |
V352F |
possibly damaging |
Het |
Vmn1r67 |
T |
A |
7: 10,181,342 (GRCm39) |
M202K |
possibly damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,580,635 (GRCm39) |
V524A |
probably benign |
Het |
Zc3h12d |
C |
A |
10: 7,738,382 (GRCm39) |
D229E |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,810,311 (GRCm39) |
D116G |
probably damaging |
Het |
Zfp971 |
A |
G |
2: 177,675,793 (GRCm39) |
E464G |
possibly 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 |
R7001:Mtus2
|
UTSW |
5 |
148,214,438 (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 |
|
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'- GACTCCCAGTTCAGCTTCAG -3'
(R):5'- ACCGGCTGACATTTTACCGG -3'
Sequencing Primer
(F):5'- GCTTCAGCGTCGAAGGAAAACC -3'
(R):5'- GACATTTTACCGGTGAGTCTAGTACC -3'
|
Posted On |
2019-10-24 |