Incidental Mutation 'R2327:Mtus2'
| ID |
245685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
040318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R2327 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148014725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 506
(N506S)
|
| 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: N506S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: N506S
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,569 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
T |
G |
4: 111,383,798 (GRCm39) |
S218A |
probably benign |
Het |
| Apol11b |
T |
C |
15: 77,522,153 (GRCm39) |
E48G |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,419,666 (GRCm39) |
N676K |
probably benign |
Het |
| Capn5 |
T |
A |
7: 97,775,574 (GRCm39) |
S456C |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,600,161 (GRCm39) |
Y590C |
probably damaging |
Het |
| Ccdc188 |
G |
T |
16: 18,037,070 (GRCm39) |
G283W |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,248,351 (GRCm39) |
V45A |
probably damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,771 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
T |
19: 10,564,166 (GRCm39) |
T169S |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,397 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,344 (GRCm39) |
T236A |
possibly damaging |
Het |
| Efs |
A |
G |
14: 55,154,961 (GRCm39) |
V426A |
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,113,157 (GRCm39) |
L136S |
probably damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,535,872 (GRCm39) |
K312* |
probably null |
Het |
| Fbxl12 |
A |
G |
9: 20,553,530 (GRCm39) |
L19P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,110,913 (GRCm39) |
Y980* |
probably null |
Het |
| Fscn2 |
T |
A |
11: 120,257,527 (GRCm39) |
I296N |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,384,835 (GRCm39) |
V242A |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,817,315 (GRCm39) |
H368R |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,657,893 (GRCm39) |
S92N |
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,336,031 (GRCm39) |
S196T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,168,804 (GRCm39) |
M773L |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,405,247 (GRCm39) |
T92A |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,111,218 (GRCm39) |
D303G |
probably damaging |
Het |
| Kpna2rt |
C |
A |
17: 90,217,697 (GRCm39) |
R16S |
probably benign |
Het |
| Krtap5-2 |
T |
G |
7: 141,728,748 (GRCm39) |
S311R |
unknown |
Het |
| Krtdap |
T |
A |
7: 30,489,185 (GRCm39) |
|
probably null |
Het |
| Lce1g |
G |
T |
3: 92,658,140 (GRCm39) |
S56Y |
unknown |
Het |
| Lrrn1 |
G |
A |
6: 107,545,794 (GRCm39) |
V531I |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,861,358 (GRCm39) |
E429G |
probably damaging |
Het |
| Mrgpra2b |
T |
G |
7: 47,113,793 (GRCm39) |
D287A |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,076,258 (GRCm39) |
T150A |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,963,313 (GRCm39) |
V1085L |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,048 (GRCm39) |
N51S |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,771,304 (GRCm39) |
L196Q |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,074,747 (GRCm39) |
N816I |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,767,700 (GRCm39) |
V218A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,673 (GRCm39) |
E339G |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,611,331 (GRCm39) |
V135I |
probably benign |
Het |
| Or51b6b |
A |
G |
7: 103,309,779 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,165 (GRCm39) |
L285* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,284,828 (GRCm39) |
I619T |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,759,118 (GRCm39) |
D118G |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,314 (GRCm39) |
D168G |
possibly damaging |
Het |
| Preb |
T |
C |
5: 31,115,849 (GRCm39) |
E198G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,386,378 (GRCm39) |
T203A |
possibly damaging |
Het |
| Rbm17 |
A |
G |
2: 11,602,942 (GRCm39) |
V54A |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,574 (GRCm39) |
D276E |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,439,471 (GRCm39) |
L77P |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scarf1 |
A |
C |
11: 75,416,854 (GRCm39) |
E765D |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,803,890 (GRCm39) |
N363Y |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,990,041 (GRCm39) |
M113I |
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,980,165 (GRCm39) |
C60Y |
probably damaging |
Het |
| Slc22a21 |
T |
A |
11: 53,842,130 (GRCm39) |
K549N |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,947,004 (GRCm39) |
M684T |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,668,666 (GRCm39) |
Y198C |
possibly damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,833 (GRCm39) |
V210E |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,893,475 (GRCm39) |
E1604K |
possibly damaging |
Het |
| Tspan31 |
T |
C |
10: 126,904,365 (GRCm39) |
D143G |
probably benign |
Het |
| Tspan5 |
T |
A |
3: 138,603,903 (GRCm39) |
Y131* |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,795,189 (GRCm39) |
D1070G |
probably damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,016,708 (GRCm39) |
P391S |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,464 (GRCm39) |
I700T |
probably damaging |
Het |
| Vps13c |
A |
C |
9: 67,821,102 (GRCm39) |
N1204T |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
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 |
|
|
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'- TGATGTCGGACAAGCAGCTC -3'
(R):5'- GGGATGTGTTCAATACCTGCCC -3'
Sequencing Primer
(F):5'- ACAAGCAGCTCCTGTTCG -3'
(R):5'- ATACCTGCCCACCATCCGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation