Incidental Mutation 'R6009:Mtus2'
| ID |
479644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
044186-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148243462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 94
(E94G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071878]
[ENSMUST00000085554]
[ENSMUST00000085558]
[ENSMUST00000110514]
[ENSMUST00000110515]
[ENSMUST00000146425]
[ENSMUST00000152105]
|
| AlphaFold |
Q3UHD3 |
| Predicted Effect |
silent
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 |
probably damaging
Transcript: ENSMUST00000085554
AA Change: E57G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082690
Gene: ENSMUSG00000029651
AA Change: E57G
| 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: E1258G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: E1258G
| 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: E220G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106143
Gene: ENSMUSG00000029651
AA Change: E220G
| 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: E253G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106144
Gene: ENSMUSG00000029651
AA Change: E253G
| 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 damaging
Transcript: ENSMUST00000152105
AA Change: E94G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123055
Gene: ENSMUSG00000029651
AA Change: E94G
| 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 |
0.2334 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,700,454 (GRCm39) |
|
probably benign |
Het |
| Afap1 |
T |
C |
5: 36,154,904 (GRCm39) |
S683P |
probably damaging |
Het |
| Chid1 |
T |
A |
7: 141,109,493 (GRCm39) |
D131V |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
| Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
| Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
| Flii |
A |
T |
11: 60,611,583 (GRCm39) |
L376* |
probably null |
Het |
| Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
| Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
| Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
| Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
| Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
| Kansl1l |
C |
T |
1: 66,774,759 (GRCm39) |
C689Y |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
| Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
| Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
| Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
| Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
| Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
| Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
| Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
| Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
| Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
| Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
| Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
| Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
| Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
| Ttll7 |
A |
T |
3: 146,640,290 (GRCm39) |
D503V |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
| Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
possibly 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 |
|
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'- AGTGCACTCCGGCATTTTCTG -3'
(R):5'- ACCAGGAGATGATTCAGACTGG -3'
Sequencing Primer
(F):5'- CTCTGACTTTCTGAAAAGGGCTATGC -3'
(R):5'- TTCAGACTGGATACTGCGAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation