Incidental Mutation 'R5622:Mtus2'
| ID |
441624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
043161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148015244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 679
(N679I)
|
| 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: N679I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: N679I
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149336
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,546,642 (GRCm39) |
S320T |
probably benign |
Het |
| Alg8 |
T |
A |
7: 97,036,006 (GRCm39) |
|
probably benign |
Het |
| Anp32b |
G |
A |
4: 46,469,930 (GRCm39) |
E202K |
unknown |
Het |
| Apcdd1 |
A |
G |
18: 63,069,973 (GRCm39) |
|
probably null |
Het |
| Apobec2 |
A |
G |
17: 48,730,444 (GRCm39) |
V74A |
possibly damaging |
Het |
| Arid3c |
A |
T |
4: 41,729,959 (GRCm39) |
C79S |
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,118,994 (GRCm39) |
|
probably benign |
Het |
| B2m |
A |
T |
2: 121,981,471 (GRCm39) |
N62I |
probably damaging |
Het |
| Borcs5 |
T |
C |
6: 134,663,086 (GRCm39) |
|
probably null |
Het |
| Ccn1 |
A |
G |
3: 145,355,075 (GRCm39) |
L60P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,714,674 (GRCm39) |
K127E |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,563,433 (GRCm39) |
H726R |
possibly damaging |
Het |
| Col5a2 |
A |
C |
1: 45,466,219 (GRCm39) |
S190A |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,990 (GRCm39) |
D5G |
probably damaging |
Het |
| Cyp2a5 |
T |
G |
7: 26,535,299 (GRCm39) |
V87G |
probably damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,013,965 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,404,500 (GRCm39) |
S2681P |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
| Deptor |
T |
A |
15: 55,044,428 (GRCm39) |
I198N |
probably damaging |
Het |
| Ebf2 |
T |
C |
14: 67,628,007 (GRCm39) |
I334T |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,020,134 (GRCm39) |
R870G |
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,109,871 (GRCm39) |
H633P |
unknown |
Het |
| Gm11938 |
T |
A |
11: 99,494,119 (GRCm39) |
|
probably null |
Het |
| Gm6370 |
A |
G |
5: 146,430,708 (GRCm39) |
T298A |
probably benign |
Het |
| H60b |
C |
A |
10: 22,159,441 (GRCm39) |
|
probably benign |
Het |
| Hsbp1 |
A |
G |
8: 120,071,324 (GRCm39) |
T4A |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,524 (GRCm39) |
D266E |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,440,426 (GRCm39) |
Y287C |
probably damaging |
Het |
| Il20rb |
T |
A |
9: 100,368,371 (GRCm39) |
Q4L |
probably benign |
Het |
| Krt5 |
T |
C |
15: 101,617,470 (GRCm39) |
D421G |
probably damaging |
Het |
| Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,445,871 (GRCm39) |
D196G |
probably damaging |
Het |
| Mfsd12 |
T |
A |
10: 81,199,461 (GRCm39) |
V451E |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,794,503 (GRCm39) |
N663S |
possibly damaging |
Het |
| Myt1 |
A |
G |
2: 181,438,915 (GRCm39) |
T146A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,160,281 (GRCm39) |
H2244L |
probably damaging |
Het |
| Or51l4 |
T |
C |
7: 103,404,376 (GRCm39) |
T139A |
probably damaging |
Het |
| Or5b21 |
A |
C |
19: 12,839,663 (GRCm39) |
I175L |
probably benign |
Het |
| Or5p81 |
C |
T |
7: 108,267,289 (GRCm39) |
T222I |
probably benign |
Het |
| Pabpc4 |
A |
G |
4: 123,185,524 (GRCm39) |
|
probably null |
Het |
| Padi1 |
C |
A |
4: 140,552,266 (GRCm39) |
V393L |
probably damaging |
Het |
| Pax2 |
A |
T |
19: 44,806,905 (GRCm39) |
D300V |
probably damaging |
Het |
| Pcgf2 |
T |
C |
11: 97,581,078 (GRCm39) |
E71G |
probably damaging |
Het |
| Pi4kb |
A |
G |
3: 94,906,172 (GRCm39) |
Q573R |
possibly damaging |
Het |
| Pitpna |
T |
A |
11: 75,511,153 (GRCm39) |
M242K |
possibly damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,014 (GRCm39) |
E1567G |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,545,210 (GRCm39) |
S630R |
probably damaging |
Het |
| Prrt2 |
A |
T |
7: 126,618,937 (GRCm39) |
V176D |
probably benign |
Het |
| Prss1l |
A |
C |
6: 41,373,084 (GRCm39) |
N119H |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,628,490 (GRCm39) |
|
probably null |
Het |
| Rhoq |
A |
G |
17: 87,304,459 (GRCm39) |
R197G |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,702,299 (GRCm39) |
T332S |
probably benign |
Het |
| Rnps1-ps |
C |
T |
6: 7,982,605 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,900,700 (GRCm39) |
Y989F |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
| Slc35f5 |
G |
A |
1: 125,517,693 (GRCm39) |
R497Q |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,198,090 (GRCm39) |
K728R |
probably benign |
Het |
| Tiparp |
T |
G |
3: 65,454,946 (GRCm39) |
S364A |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,296,969 (GRCm39) |
Q409* |
probably null |
Het |
| Trp73 |
A |
T |
4: 154,145,049 (GRCm39) |
I526N |
possibly damaging |
Het |
| Ttc9c |
G |
A |
19: 8,793,332 (GRCm39) |
R103* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,702 (GRCm39) |
I704F |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,348,216 (GRCm39) |
R63G |
probably damaging |
Het |
| Zc3h3 |
T |
A |
15: 75,648,928 (GRCm39) |
S735C |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,611,615 (GRCm39) |
V32M |
probably damaging |
Het |
| Zfp810 |
T |
A |
9: 22,190,392 (GRCm39) |
Y172F |
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 |
|
|
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'- AACACGTGAGGCCCAAGATC -3'
(R):5'- GGACATTTTGTTTCCAAGTTTCACC -3'
Sequencing Primer
(F):5'- GTGAGGCCCAAGATCATCACTTAC -3'
(R):5'- TGTTTCCAAGTTTCACCAAGAAAG -3'
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| Posted On |
2016-11-08 |
Incidental Mutation