Incidental Mutation 'R9477:Mtus2'
| ID |
715851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R9477 (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 G
at 148014740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 511
(V511G)
|
| 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: V511G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: V511G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
T |
1: 89,765,485 (GRCm39) |
M618L |
probably benign |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,282 (GRCm39) |
I89N |
probably damaging |
Het |
| App |
C |
A |
16: 84,853,392 (GRCm39) |
A229S |
unknown |
Het |
| B020011L13Rik |
G |
T |
1: 117,728,903 (GRCm39) |
E137* |
probably null |
Het |
| BC034090 |
C |
T |
1: 155,102,087 (GRCm39) |
G59E |
probably damaging |
Het |
| C1ra |
A |
G |
6: 124,499,455 (GRCm39) |
D547G |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,755,212 (GRCm39) |
D774E |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,201 (GRCm39) |
N1104D |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,720,743 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
T |
8: 105,560,556 (GRCm39) |
N124Y |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,985,032 (GRCm39) |
T959A |
probably benign |
Het |
| Chaf1a |
A |
T |
17: 56,369,244 (GRCm39) |
K492* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,620 (GRCm39) |
V334A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,706,621 (GRCm39) |
I2771T |
unknown |
Het |
| Creb3 |
T |
C |
4: 43,566,298 (GRCm39) |
L244P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,816,956 (GRCm39) |
V171A |
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,446,182 (GRCm39) |
Y613H |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,819 (GRCm39) |
V416I |
probably benign |
Het |
| Dhrs1 |
A |
G |
14: 55,976,868 (GRCm39) |
V272A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 99,936,784 (GRCm39) |
S32P |
probably damaging |
Het |
| Dpp10 |
G |
T |
1: 123,304,370 (GRCm39) |
T510K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,205,292 (GRCm39) |
Y820C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,836,698 (GRCm39) |
H3562L |
unknown |
Het |
| Fam3c |
A |
T |
6: 22,308,479 (GRCm39) |
M238K |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,265 (GRCm39) |
F1263L |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,159,803 (GRCm39) |
C484S |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,295,720 (GRCm39) |
L97P |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,431,682 (GRCm39) |
I310V |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,314 (GRCm39) |
N23I |
probably benign |
Het |
| Gpr21 |
T |
A |
2: 37,408,386 (GRCm39) |
F311I |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,405 (GRCm39) |
E741G |
probably benign |
Het |
| Gsto2 |
G |
A |
19: 47,864,911 (GRCm39) |
R148H |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,368,813 (GRCm39) |
V27A |
probably benign |
Het |
| Hbp1 |
A |
G |
12: 31,980,766 (GRCm39) |
C446R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,286,031 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
G |
A |
1: 173,854,155 (GRCm39) |
T166I |
probably benign |
Het |
| Il23a |
T |
A |
10: 128,133,922 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,936,409 (GRCm39) |
C362S |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 66,993,734 (GRCm39) |
R72* |
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,716,361 (GRCm39) |
I176T |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,638,779 (GRCm39) |
K1517E |
probably benign |
Het |
| Mbnl1 |
A |
G |
3: 60,520,769 (GRCm39) |
D119G |
probably damaging |
Het |
| Mfsd8 |
A |
G |
3: 40,785,057 (GRCm39) |
|
probably null |
Het |
| Myot |
A |
C |
18: 44,470,333 (GRCm39) |
Q103H |
probably benign |
Het |
| Nrip2 |
G |
A |
6: 128,377,145 (GRCm39) |
D24N |
probably benign |
Het |
| Ntm |
T |
A |
9: 29,322,922 (GRCm39) |
S33C |
probably benign |
Het |
| Nus1 |
C |
T |
10: 52,294,001 (GRCm39) |
T55M |
possibly damaging |
Het |
| Or4c112 |
G |
A |
2: 88,853,615 (GRCm39) |
T244I |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,922,973 (GRCm39) |
|
probably null |
Het |
| Pogk |
T |
C |
1: 166,227,404 (GRCm39) |
N249S |
probably damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,320,503 (GRCm39) |
T66I |
possibly damaging |
Het |
| Ppp1r42 |
T |
G |
1: 10,055,854 (GRCm39) |
K211N |
probably damaging |
Het |
| Ppp2r3d |
C |
A |
9: 124,476,857 (GRCm38) |
D2Y |
|
Het |
| Prdm5 |
A |
T |
6: 65,771,342 (GRCm39) |
N51I |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 52,001,342 (GRCm39) |
A1599T |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,921,981 (GRCm39) |
A520T |
|
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spice1 |
T |
A |
16: 44,197,183 (GRCm39) |
N489K |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,132,624 (GRCm39) |
M116T |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,025,500 (GRCm39) |
N249Y |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,410,706 (GRCm39) |
|
probably null |
Het |
| Trhde |
T |
A |
10: 114,338,980 (GRCm39) |
E610V |
probably benign |
Het |
| Trmt12 |
T |
C |
15: 58,745,471 (GRCm39) |
S290P |
possibly damaging |
Het |
| Trpm2 |
C |
T |
10: 77,747,224 (GRCm39) |
V1425M |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,778,108 (GRCm39) |
S832P |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,128 (GRCm39) |
D1472V |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,261 (GRCm39) |
V53G |
possibly damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,168,910 (GRCm39) |
I740N |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,218,244 (GRCm39) |
C18Y |
possibly damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,188 (GRCm39) |
I177M |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,428 (GRCm39) |
I895T |
probably benign |
Het |
| Zfp58 |
C |
A |
13: 67,640,158 (GRCm39) |
C111F |
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 |
|
|
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 |
|
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'- TGATGTCGGACAAGCAGCTC -3'
(R):5'- ATGTGTTCAATACCTGCCCACC -3'
Sequencing Primer
(F):5'- AACTCGGGCAGTACCAAATTGTTG -3'
(R):5'- ATACCTGCCCACCATCCGTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation