Incidental Mutation 'R1574:Mtus2'
| ID |
171023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
045014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R1574 (G1)
|
| Quality Score |
165 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 148013362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 52
(K52Q)
|
| 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: K52Q
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: K52Q
| 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: 98.3%
- 3x: 96.3%
- 10x: 84.0%
- 20x: 52.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,935,296 (GRCm39) |
N1276K |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,713,128 (GRCm39) |
E6G |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,293,269 (GRCm39) |
D721E |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,155 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,040,839 (GRCm39) |
I655L |
possibly damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,832,810 (GRCm39) |
L437Q |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,073,779 (GRCm39) |
R222S |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,384,910 (GRCm39) |
D2457N |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,265,433 (GRCm39) |
|
probably null |
Het |
| Ces2b |
G |
T |
8: 105,562,521 (GRCm39) |
A284S |
probably benign |
Het |
| Clock |
T |
C |
5: 76,390,679 (GRCm39) |
D311G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,257 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
GTGATGATGATGATGATGATG |
GTGATGATGATGATGATG |
2: 104,051,553 (GRCm39) |
|
probably benign |
Het |
| Dbil5 |
A |
G |
11: 76,109,308 (GRCm39) |
M71V |
probably benign |
Het |
| Ddhd1 |
A |
C |
14: 45,833,004 (GRCm39) |
L864R |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,024,052 (GRCm39) |
C1900R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,405,514 (GRCm39) |
V666A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,252,569 (GRCm39) |
M754K |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,063,854 (GRCm39) |
S145T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,474,285 (GRCm39) |
F25S |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Fbxo48 |
G |
T |
11: 16,903,368 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,793,997 (GRCm39) |
I892N |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,753,611 (GRCm39) |
T2321A |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,554,997 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,294,899 (GRCm39) |
T2563P |
probably damaging |
Het |
| Iqcd |
A |
T |
5: 120,738,300 (GRCm39) |
K39N |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,685,871 (GRCm39) |
S668P |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,110,961 (GRCm39) |
N68Y |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,633 (GRCm39) |
|
probably null |
Het |
| Lama2 |
T |
A |
10: 27,200,750 (GRCm39) |
I533F |
possibly damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,002,131 (GRCm39) |
I132N |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,851,428 (GRCm39) |
I807T |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,722,315 (GRCm39) |
I2366V |
probably benign |
Het |
| Moxd1 |
T |
C |
10: 24,176,217 (GRCm39) |
W558R |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,202,851 (GRCm39) |
D141G |
probably damaging |
Het |
| Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,570,097 (GRCm39) |
I249M |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,558 (GRCm39) |
V171A |
probably damaging |
Het |
| Or13e8 |
A |
T |
4: 43,697,134 (GRCm39) |
V13D |
possibly damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,521 (GRCm39) |
I228T |
probably damaging |
Het |
| Or5ak20 |
A |
T |
2: 85,184,243 (GRCm39) |
V9E |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,379 (GRCm39) |
L69P |
probably damaging |
Het |
| Or7a36 |
C |
A |
10: 78,819,820 (GRCm39) |
N32K |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,839,752 (GRCm39) |
T487A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,729,845 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,500,669 (GRCm39) |
R1474C |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
| Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
| Sart1 |
G |
A |
19: 5,430,287 (GRCm39) |
P788L |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,984,634 (GRCm39) |
T740A |
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,072,979 (GRCm39) |
D61G |
possibly damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
A |
2: 124,922,782 (GRCm39) |
G152S |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,910,022 (GRCm39) |
I426F |
possibly damaging |
Het |
| Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
| Stk33 |
C |
T |
7: 108,879,027 (GRCm39) |
V441I |
probably benign |
Het |
| Sult1c2 |
A |
G |
17: 54,143,927 (GRCm39) |
|
probably null |
Het |
| Tdpoz4 |
T |
A |
3: 93,703,835 (GRCm39) |
V44E |
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
| Tmprss13 |
C |
A |
9: 45,254,529 (GRCm39) |
T432K |
probably damaging |
Het |
| Traf7 |
A |
G |
17: 24,729,527 (GRCm39) |
L428P |
probably damaging |
Het |
| Tubb1 |
T |
C |
2: 174,299,215 (GRCm39) |
I299T |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,489,772 (GRCm39) |
W146R |
probably damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,822,059 (GRCm39) |
I170T |
possibly damaging |
Het |
| Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,606,063 (GRCm39) |
H325L |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 83,011,300 (GRCm39) |
L1111H |
possibly damaging |
Het |
| Zfp61 |
C |
G |
7: 23,990,635 (GRCm39) |
K505N |
probably damaging |
Het |
| Zfp653 |
C |
A |
9: 21,969,274 (GRCm39) |
E331* |
probably null |
Het |
| Zfp949 |
A |
T |
9: 88,451,830 (GRCm39) |
K467* |
probably null |
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 |
|
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 |
|
|
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'- TGAAGACGTGACCATGAGTGTCCC -3'
(R):5'- GCTGGAAAGACTTGGTCCCTGAAC -3'
Sequencing Primer
(F):5'- CATGAGTGTCCCACTCGC -3'
(R):5'- TTGGTCCCTGAACACACTGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation