Incidental Mutation 'R4931:Mtus2'
| ID |
380554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
042532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R4931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 148014226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 340
(L340F)
|
| 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: L340F
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: L340F
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (78/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,643,875 (GRCm39) |
D21G |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,678,910 (GRCm39) |
L68P |
possibly damaging |
Het |
| Ache |
A |
G |
5: 137,290,176 (GRCm39) |
I414V |
probably benign |
Het |
| Acy1 |
G |
A |
9: 106,310,390 (GRCm39) |
H308Y |
probably damaging |
Het |
| Aldh1b1 |
A |
C |
4: 45,803,661 (GRCm39) |
I400L |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,225,647 (GRCm39) |
L226Q |
probably benign |
Het |
| B3gnt9 |
T |
C |
8: 105,980,876 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,977,134 (GRCm39) |
Y289C |
probably damaging |
Het |
| Cd209f |
A |
T |
8: 4,153,688 (GRCm39) |
I187N |
probably damaging |
Het |
| Cers6 |
T |
G |
2: 68,935,456 (GRCm39) |
S319A |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,665 (GRCm39) |
S364P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,884,258 (GRCm39) |
S317P |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,774 (GRCm39) |
V1129A |
probably benign |
Het |
| Dhx9 |
G |
A |
1: 153,348,419 (GRCm39) |
P302L |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,583,793 (GRCm39) |
F496L |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,127,236 (GRCm39) |
N147S |
probably benign |
Het |
| Dytn |
T |
G |
1: 63,672,837 (GRCm39) |
E522A |
probably benign |
Het |
| E130114P18Rik |
T |
C |
4: 97,608,524 (GRCm39) |
D27G |
unknown |
Het |
| Egf |
A |
G |
3: 129,505,117 (GRCm39) |
F118S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,082,128 (GRCm39) |
F73L |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,240 (GRCm39) |
E237G |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,214,165 (GRCm39) |
E664G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,526,895 (GRCm39) |
S373T |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,784,699 (GRCm39) |
F894Y |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,372,050 (GRCm39) |
E496G |
unknown |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,588 (GRCm39) |
K465E |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,297 (GRCm39) |
T459A |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,803,797 (GRCm39) |
I64F |
probably damaging |
Het |
| Itgb2l |
T |
A |
16: 96,238,649 (GRCm39) |
N50I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,962,531 (GRCm39) |
I478T |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,940,983 (GRCm39) |
T109I |
probably benign |
Het |
| Ltbr |
G |
T |
6: 125,284,437 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
G |
7: 62,030,372 (GRCm39) |
D1092G |
unknown |
Het |
| Minar1 |
T |
C |
9: 89,483,705 (GRCm39) |
H564R |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,024 (GRCm39) |
N231K |
probably damaging |
Het |
| Mpnd |
T |
G |
17: 56,319,362 (GRCm39) |
|
probably benign |
Het |
| Nanog |
G |
A |
6: 122,684,865 (GRCm39) |
A17T |
possibly damaging |
Het |
| Ndufa9 |
G |
T |
6: 126,813,283 (GRCm39) |
A181E |
probably damaging |
Het |
| Or52z14 |
T |
G |
7: 103,253,581 (GRCm39) |
L240R |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,858 (GRCm39) |
I149F |
probably benign |
Het |
| Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,766,367 (GRCm39) |
V17A |
possibly damaging |
Het |
| Prkacb |
T |
C |
3: 146,453,732 (GRCm39) |
I211V |
possibly damaging |
Het |
| Ptpn14 |
C |
G |
1: 189,583,474 (GRCm39) |
L774V |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,492,848 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,573,028 (GRCm39) |
P391Q |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sf3b3 |
C |
T |
8: 111,542,961 (GRCm39) |
R832Q |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,068,035 (GRCm39) |
D975G |
possibly damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,811 (GRCm39) |
L632P |
probably damaging |
Het |
| Spire2 |
A |
G |
8: 124,095,523 (GRCm39) |
D542G |
possibly damaging |
Het |
| Sppl3 |
A |
T |
5: 115,220,373 (GRCm39) |
Q95L |
probably damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Tcl1 |
G |
T |
12: 105,188,872 (GRCm39) |
H14N |
probably damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,555 (GRCm39) |
F70L |
probably benign |
Het |
| Tnfrsf13b |
A |
T |
11: 61,031,763 (GRCm39) |
T35S |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,821,046 (GRCm39) |
P336L |
probably benign |
Het |
| Trf |
C |
A |
9: 103,105,247 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,136,943 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,031 (GRCm39) |
I602F |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,541 (GRCm39) |
Y227C |
probably damaging |
Het |
| Zfp599 |
A |
T |
9: 22,169,419 (GRCm39) |
W18R |
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 |
|
|
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'- ATTGACTCCCAGTTCAGCTTCAG -3'
(R):5'- CGGCTGACATTTTACCGGTG -3'
Sequencing Primer
(F):5'- GCTTCAGCGTCGAAGGAAAACC -3'
(R):5'- GACATTTTACCGGTGAGTCTAGTACC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation