Incidental Mutation 'R5318:Mtus2'
ID |
405915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus2
|
Ensembl Gene |
ENSMUSG00000029651 |
Gene Name |
microtubule associated tumor suppressor candidate 2 |
Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
MMRRC Submission |
042901-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R5318 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 148013382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 58
(D58E)
|
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: D58E
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000082694 Gene: ENSMUSG00000029651 AA Change: D58E
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
G |
A |
17: 35,878,883 (GRCm39) |
E74K |
possibly damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Ankfn1 |
A |
G |
11: 89,282,754 (GRCm39) |
S298P |
probably damaging |
Het |
Arfgef2 |
A |
C |
2: 166,715,891 (GRCm39) |
K1393N |
probably damaging |
Het |
Atp4a |
T |
A |
7: 30,414,754 (GRCm39) |
V181E |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,371,961 (GRCm39) |
D134G |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,128,425 (GRCm39) |
T359A |
possibly damaging |
Het |
Cblb |
A |
T |
16: 52,006,561 (GRCm39) |
K754N |
possibly damaging |
Het |
Ccdc153 |
A |
T |
9: 44,157,062 (GRCm39) |
R135* |
probably null |
Het |
Cel |
T |
C |
2: 28,447,720 (GRCm39) |
E398G |
possibly damaging |
Het |
Clip1 |
G |
A |
5: 123,751,147 (GRCm39) |
|
probably benign |
Het |
Dnase2b |
C |
A |
3: 146,288,210 (GRCm39) |
R295L |
probably benign |
Het |
Dnm3 |
G |
A |
1: 161,839,376 (GRCm39) |
Q194* |
probably null |
Het |
Dtx2 |
T |
A |
5: 136,040,954 (GRCm39) |
S120T |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 16,287,925 (GRCm39) |
S533T |
probably damaging |
Het |
Foxred2 |
T |
C |
15: 77,836,598 (GRCm39) |
I306V |
probably benign |
Het |
Gdpd5 |
A |
T |
7: 99,102,234 (GRCm39) |
T278S |
probably benign |
Het |
Gli2 |
T |
A |
1: 118,772,200 (GRCm39) |
T502S |
probably damaging |
Het |
Gm21830 |
A |
T |
2: 67,263,158 (GRCm39) |
|
probably null |
Het |
Gm5617 |
T |
A |
9: 48,407,211 (GRCm39) |
I115N |
possibly damaging |
Het |
Gpr75 |
G |
T |
11: 30,842,459 (GRCm39) |
A455S |
probably benign |
Het |
Grik3 |
A |
G |
4: 125,587,929 (GRCm39) |
E683G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,916 (GRCm39) |
I877V |
probably damaging |
Het |
Gsg1l2 |
G |
T |
11: 67,673,347 (GRCm39) |
C109F |
possibly damaging |
Het |
H2-Q4 |
G |
A |
17: 35,602,287 (GRCm39) |
V341I |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Kif5c |
A |
G |
2: 49,561,840 (GRCm39) |
K68R |
probably benign |
Het |
Lct |
T |
A |
1: 128,232,109 (GRCm39) |
H580L |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,999,495 (GRCm39) |
I302M |
probably damaging |
Het |
Mef2b |
A |
T |
8: 70,619,493 (GRCm39) |
R228W |
probably damaging |
Het |
Myh15 |
T |
G |
16: 48,930,834 (GRCm39) |
S603A |
probably damaging |
Het |
Or1x2 |
T |
C |
11: 50,918,420 (GRCm39) |
V197A |
probably benign |
Het |
Or8d1 |
C |
T |
9: 38,766,744 (GRCm39) |
P129S |
probably damaging |
Het |
Or8s2 |
A |
G |
15: 98,276,523 (GRCm39) |
I156T |
possibly damaging |
Het |
P2rx4 |
G |
A |
5: 122,857,211 (GRCm39) |
C149Y |
probably null |
Het |
Pramel51 |
A |
T |
12: 88,142,998 (GRCm39) |
C207S |
probably benign |
Het |
Proca1 |
T |
A |
11: 78,092,683 (GRCm39) |
V43E |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,301,486 (GRCm39) |
N454K |
probably benign |
Het |
Rrp15 |
T |
C |
1: 186,453,743 (GRCm39) |
T235A |
probably benign |
Het |
Serpina6 |
T |
C |
12: 103,620,221 (GRCm39) |
E176G |
possibly damaging |
Het |
Shprh |
T |
G |
10: 11,042,301 (GRCm39) |
I761M |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,759,427 (GRCm39) |
|
probably benign |
Het |
Snupn |
T |
C |
9: 56,864,345 (GRCm39) |
S15P |
probably damaging |
Het |
Tbc1d15 |
A |
T |
10: 115,044,874 (GRCm39) |
Y509* |
probably null |
Het |
Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
Tdrd3 |
T |
C |
14: 87,714,899 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,029,576 (GRCm39) |
V175D |
probably benign |
Het |
Vmn1r201 |
T |
C |
13: 22,659,092 (GRCm39) |
L102P |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,800,300 (GRCm39) |
N1788I |
possibly damaging |
Het |
Xpc |
A |
C |
6: 91,469,992 (GRCm39) |
V744G |
probably damaging |
Het |
Xrcc6 |
T |
C |
15: 81,921,708 (GRCm39) |
F178L |
probably damaging |
Het |
Zbed6 |
A |
G |
1: 133,585,853 (GRCm39) |
S495P |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,317,624 (GRCm39) |
V1196A |
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 |
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 |
|
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'- CTGAAGACGTGACCATGAGTG -3'
(R):5'- CTTGGTCCCTGAACACACTG -3'
Sequencing Primer
(F):5'- ACGTGACCATGAGTGTCCCAC -3'
(R):5'- GCATGTTCTTCACTCAGC -3'
|
Posted On |
2016-07-22 |