Incidental Mutation 'R6379:Mtus2'
| ID |
515195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 148014008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 267
(I267T)
|
| 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: I267T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: I267T
| 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: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
T |
2: 152,269,912 (GRCm39) |
R21S |
probably benign |
Het |
| Aadacl4fm1 |
G |
T |
4: 144,248,912 (GRCm39) |
R93L |
probably benign |
Het |
| Adcy5 |
A |
T |
16: 35,114,369 (GRCm39) |
T991S |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,566,214 (GRCm39) |
|
probably null |
Het |
| Anxa1 |
T |
C |
19: 20,351,079 (GRCm39) |
*347W |
probably null |
Het |
| Aopep |
T |
A |
13: 63,216,057 (GRCm39) |
I443K |
probably damaging |
Het |
| Arid1a |
G |
T |
4: 133,408,238 (GRCm39) |
L2090I |
unknown |
Het |
| Armh3 |
A |
T |
19: 45,910,136 (GRCm39) |
V472D |
possibly damaging |
Het |
| Bambi |
T |
A |
18: 3,512,198 (GRCm39) |
L194Q |
probably damaging |
Het |
| Card9 |
A |
G |
2: 26,246,789 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,481,191 (GRCm39) |
I99F |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,269,082 (GRCm39) |
|
probably null |
Het |
| Ccdc71 |
A |
G |
9: 108,340,811 (GRCm39) |
K208R |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,492,743 (GRCm39) |
V254A |
probably benign |
Het |
| Cep295nl |
T |
A |
11: 118,224,556 (GRCm39) |
N96I |
probably benign |
Het |
| Ces1f |
C |
A |
8: 94,006,279 (GRCm39) |
C17F |
probably benign |
Het |
| Clic6 |
C |
A |
16: 92,336,423 (GRCm39) |
T577K |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,012,996 (GRCm39) |
M1019V |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,634,844 (GRCm39) |
S73Y |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 71,998,712 (GRCm39) |
L556F |
unknown |
Het |
| Dchs2 |
A |
C |
3: 83,262,453 (GRCm39) |
N2907T |
probably damaging |
Het |
| Dlgap3 |
A |
C |
4: 127,128,767 (GRCm39) |
E829A |
probably damaging |
Het |
| Dpysl5 |
A |
T |
5: 30,935,317 (GRCm39) |
|
probably null |
Het |
| Draxin |
C |
A |
4: 148,192,400 (GRCm39) |
C304F |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,878,005 (GRCm39) |
D131G |
possibly damaging |
Het |
| Fads1 |
T |
C |
19: 10,160,551 (GRCm39) |
Y46H |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,857,017 (GRCm39) |
T2122P |
probably damaging |
Het |
| Figla |
T |
A |
6: 85,995,562 (GRCm39) |
I72K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,581,468 (GRCm39) |
S174T |
probably benign |
Het |
| Foxn3 |
C |
A |
12: 99,162,537 (GRCm39) |
A455S |
probably benign |
Het |
| Fyn |
C |
T |
10: 39,331,070 (GRCm39) |
|
probably benign |
Het |
| Gtse1 |
G |
A |
15: 85,748,425 (GRCm39) |
G277S |
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,588 (GRCm39) |
V99E |
probably benign |
Het |
| Icam4 |
C |
A |
9: 20,941,078 (GRCm39) |
A110E |
probably damaging |
Het |
| Itih3 |
G |
A |
14: 30,631,681 (GRCm39) |
S802L |
probably damaging |
Het |
| Kcng4 |
T |
A |
8: 120,360,359 (GRCm39) |
R6* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,564,339 (GRCm39) |
C977S |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,960,675 (GRCm39) |
M362L |
probably benign |
Het |
| Nab1 |
A |
G |
1: 52,520,156 (GRCm39) |
V275A |
probably damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,280 (GRCm39) |
Q1308* |
probably null |
Het |
| Nop9 |
T |
C |
14: 55,983,249 (GRCm39) |
S7P |
possibly damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,987,438 (GRCm39) |
N25K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,490,252 (GRCm39) |
L227P |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 33,373,749 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,532,753 (GRCm39) |
C571* |
probably null |
Het |
| Nynrin |
T |
C |
14: 56,107,848 (GRCm39) |
L985P |
probably damaging |
Het |
| Obsl1 |
A |
C |
1: 75,479,787 (GRCm39) |
L341R |
probably damaging |
Het |
| Or1r1 |
T |
G |
11: 73,875,099 (GRCm39) |
S112R |
probably damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,381 (GRCm39) |
|
probably benign |
Het |
| Phip |
G |
T |
9: 82,795,910 (GRCm39) |
N570K |
probably damaging |
Het |
| Pigx |
A |
T |
16: 31,903,341 (GRCm39) |
I240N |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,854,051 (GRCm39) |
D37G |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,915,555 (GRCm39) |
M639K |
probably benign |
Het |
| Scnn1b |
T |
G |
7: 121,514,551 (GRCm39) |
M441R |
probably benign |
Het |
| Sh3gl1 |
A |
T |
17: 56,326,143 (GRCm39) |
M121K |
probably damaging |
Het |
| Slc30a4 |
A |
T |
2: 122,531,469 (GRCm39) |
V132D |
probably damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,575,155 (GRCm39) |
S42P |
probably benign |
Het |
| Slc66a1 |
G |
A |
4: 139,027,296 (GRCm39) |
L349F |
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,156,227 (GRCm39) |
C172R |
probably damaging |
Het |
| Suz12 |
A |
T |
11: 79,906,014 (GRCm39) |
D292V |
possibly damaging |
Het |
| Sv2b |
A |
T |
7: 74,786,048 (GRCm39) |
D457E |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,773 (GRCm39) |
V285A |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,866,102 (GRCm39) |
|
probably benign |
Het |
| Them7 |
G |
T |
2: 105,115,031 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,660,979 (GRCm39) |
T158A |
probably damaging |
Het |
| Tonsl |
C |
T |
15: 76,513,942 (GRCm39) |
R1209H |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,298 (GRCm39) |
L838* |
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,848,942 (GRCm39) |
I63V |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,814,828 (GRCm39) |
N90K |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,077,574 (GRCm39) |
S1433F |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,141 (GRCm39) |
D158G |
probably damaging |
Het |
| Zfhx2 |
T |
A |
14: 55,311,795 (GRCm39) |
T300S |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,513,085 (GRCm39) |
D23E |
probably benign |
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 |
|
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 |
|
|
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'- AGTGCAGCTGGATACCTTGG -3'
(R):5'- AGTAGCTCCTGCCTCTCTACAG -3'
Sequencing Primer
(F):5'- TGGATACCTTGGGGCCG -3'
(R):5'- TTTCCTCGTGACAGCCAGGAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation