Incidental Mutation 'IGL02991:Mtus2'
| ID |
452918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
IGL02991 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 148250310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 310
(V310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071878]
[ENSMUST00000085554]
[ENSMUST00000085558]
[ENSMUST00000110514]
[ENSMUST00000110515]
[ENSMUST00000146425]
[ENSMUST00000152105]
|
| AlphaFold |
Q3UHD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071878
|
| SMART Domains |
Protein: ENSMUSP00000071775
Gene: ENSMUSG00000029651
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085554
AA Change: V147G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082690
Gene: ENSMUSG00000029651
AA Change: V147G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085558
AA Change: V1348G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: V1348G
| 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 damaging
Transcript: ENSMUST00000110514
AA Change: V310G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106143
Gene: ENSMUSG00000029651
AA Change: V310G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110515
AA Change: V343G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106144
Gene: ENSMUSG00000029651
AA Change: V343G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
144 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152105
|
| SMART Domains |
Protein: ENSMUSP00000123055
Gene: ENSMUSG00000029651
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
52 |
155 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1207 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (73/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Adam23 |
T |
C |
1: 63,586,978 (GRCm39) |
|
probably null |
Het |
| Aptx |
C |
A |
4: 40,686,687 (GRCm39) |
G199C |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,299,294 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,881,140 (GRCm39) |
T566A |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,348,713 (GRCm39) |
Q202* |
probably null |
Het |
| Cacna1h |
C |
A |
17: 25,610,286 (GRCm39) |
R740L |
possibly damaging |
Het |
| Casp8 |
T |
A |
1: 58,866,438 (GRCm39) |
N146K |
probably benign |
Het |
| Ccdc63 |
T |
C |
5: 122,246,275 (GRCm39) |
M549V |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,861,972 (GRCm39) |
S51P |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,828,398 (GRCm39) |
M1113T |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
ACC |
AC |
1: 139,164,822 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Cxcl11 |
C |
T |
5: 92,509,169 (GRCm39) |
R28H |
probably damaging |
Het |
| Defb40 |
C |
T |
8: 19,025,119 (GRCm39) |
C29Y |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fen1 |
A |
T |
19: 10,178,026 (GRCm39) |
D139E |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,511 (GRCm39) |
E1846G |
probably damaging |
Het |
| Gria2 |
T |
A |
3: 80,615,116 (GRCm39) |
K455* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,614,409 (GRCm39) |
N1332K |
possibly damaging |
Het |
| Htr5b |
C |
T |
1: 121,455,756 (GRCm39) |
V55M |
probably benign |
Het |
| Ighv6-5 |
A |
T |
12: 114,380,315 (GRCm39) |
N86K |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,174,833 (GRCm39) |
V347A |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,256,162 (GRCm39) |
E876G |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,155,279 (GRCm39) |
|
probably benign |
Het |
| Lbr |
T |
C |
1: 181,649,117 (GRCm39) |
Y334C |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,377,732 (GRCm39) |
L271P |
probably damaging |
Het |
| Lss |
T |
A |
10: 76,379,745 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,132,091 (GRCm39) |
V731A |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mob3b |
T |
A |
4: 35,083,805 (GRCm39) |
Q128L |
probably benign |
Het |
| Mog |
T |
C |
17: 37,334,091 (GRCm39) |
M1V |
probably null |
Het |
| Mrpl4 |
A |
G |
9: 20,919,901 (GRCm39) |
Y284C |
probably damaging |
Het |
| Mup11 |
ACAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCA |
4: 60,618,275 (GRCm39) |
|
probably benign |
Het |
| Odad4 |
A |
G |
11: 100,444,698 (GRCm39) |
S285G |
probably benign |
Het |
| Or10g9 |
T |
C |
9: 39,911,698 (GRCm39) |
Y275C |
probably damaging |
Het |
| Or8g55 |
T |
A |
9: 39,785,362 (GRCm39) |
S264T |
probably benign |
Het |
| Orc3 |
T |
G |
4: 34,593,083 (GRCm39) |
Q328P |
probably damaging |
Het |
| Otulinl |
T |
C |
15: 27,658,388 (GRCm39) |
S211G |
possibly damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,264 (GRCm39) |
G597C |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,675,260 (GRCm39) |
I334T |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Proz |
G |
A |
8: 13,123,490 (GRCm39) |
E254K |
probably benign |
Het |
| Psma6 |
T |
C |
12: 55,454,357 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,192 (GRCm39) |
V1115A |
probably damaging |
Het |
| Sfxn5 |
G |
T |
6: 85,266,190 (GRCm39) |
N102K |
possibly damaging |
Het |
| Sgo2a |
G |
T |
1: 58,054,514 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,249,049 (GRCm39) |
M1K |
probably null |
Het |
| Spag5 |
T |
A |
11: 78,205,077 (GRCm39) |
L621M |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,533 (GRCm39) |
Y227C |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Supt6 |
T |
C |
11: 78,116,179 (GRCm39) |
E728G |
probably damaging |
Het |
| Sympk |
T |
A |
7: 18,764,502 (GRCm39) |
L69Q |
probably damaging |
Het |
| Timd4 |
T |
A |
11: 46,732,974 (GRCm39) |
|
probably benign |
Het |
| Trh |
G |
A |
6: 92,220,719 (GRCm39) |
R48W |
probably damaging |
Het |
| Trip12 |
C |
A |
1: 84,716,536 (GRCm39) |
D383Y |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,757,014 (GRCm39) |
I23F |
possibly damaging |
Het |
| Tspyl5 |
A |
G |
15: 33,686,989 (GRCm39) |
S319P |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,717,201 (GRCm39) |
K403E |
probably damaging |
Het |
| Vmn2r34 |
C |
A |
7: 7,675,720 (GRCm39) |
C556F |
probably damaging |
Het |
| Vps13c |
C |
A |
9: 67,821,159 (GRCm39) |
A1223E |
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 |
|
|
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 |
|
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'- GTTCTCTTTCGTGCAGACAAC -3'
(R):5'- CAGGATGGTCTTGCACAAGG -3'
Sequencing Primer
(F):5'- CTGTCGGAGGAAAATGCAAACCTC -3'
(R):5'- ATGGTCTTGCACAAGGGTCAG -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation