Incidental Mutation 'R0729:Mtus2'
| ID |
67376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
038910-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R0729 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148014097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 297
(T297A)
|
| 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: T297A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: T297A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
A |
11: 72,050,281 (GRCm39) |
A828S |
probably benign |
Het |
| Acsm3 |
T |
C |
7: 119,383,207 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,255,769 (GRCm39) |
R446H |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,398 (GRCm39) |
N849S |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,408,235 (GRCm39) |
D228G |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,414,412 (GRCm39) |
V375A |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,147,555 (GRCm39) |
K5E |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,394,456 (GRCm39) |
N573D |
probably benign |
Het |
| Calhm2 |
C |
A |
19: 47,121,356 (GRCm39) |
G271V |
possibly damaging |
Het |
| Capn13 |
C |
T |
17: 73,629,064 (GRCm39) |
G581E |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,016,288 (GRCm39) |
|
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,619,753 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,634,111 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crx |
A |
G |
7: 15,605,058 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,994 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
T |
A |
1: 172,000,221 (GRCm39) |
D126E |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,764,186 (GRCm39) |
I464T |
probably damaging |
Het |
| Dhx32 |
G |
A |
7: 133,339,150 (GRCm39) |
T155I |
probably benign |
Het |
| Elac2 |
C |
A |
11: 64,889,349 (GRCm39) |
P567T |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,054,444 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
T |
G |
1: 175,442,383 (GRCm39) |
N156H |
probably damaging |
Het |
| Gm10064 |
T |
C |
5: 122,835,584 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14137 |
A |
G |
2: 119,005,834 (GRCm39) |
E131G |
probably benign |
Het |
| Gpr22 |
T |
A |
12: 31,759,312 (GRCm39) |
K233M |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,480 (GRCm39) |
N68S |
probably benign |
Het |
| Gypa |
C |
T |
8: 81,223,421 (GRCm39) |
P66S |
unknown |
Het |
| Htr2a |
A |
T |
14: 74,879,587 (GRCm39) |
Q72L |
probably benign |
Het |
| Klhdc7b |
C |
T |
15: 89,271,598 (GRCm39) |
R827* |
probably null |
Het |
| Leo1 |
G |
A |
9: 75,364,420 (GRCm39) |
R520Q |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,757 (GRCm39) |
M429V |
probably benign |
Het |
| Lrrc74a |
C |
T |
12: 86,792,353 (GRCm39) |
Q225* |
probably null |
Het |
| Mamdc4 |
T |
A |
2: 25,460,048 (GRCm39) |
N68Y |
probably damaging |
Het |
| Map3k10 |
G |
A |
7: 27,360,992 (GRCm39) |
P507L |
probably damaging |
Het |
| Methig1 |
T |
A |
15: 100,272,870 (GRCm39) |
C68S |
probably benign |
Het |
| Metrn |
C |
T |
17: 26,015,202 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
C |
T |
9: 7,358,290 (GRCm39) |
T392I |
possibly damaging |
Het |
| Mss51 |
A |
T |
14: 20,533,160 (GRCm39) |
I437N |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,722,243 (GRCm39) |
|
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,567,575 (GRCm39) |
P319S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,111,612 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,923,535 (GRCm39) |
S6455P |
probably damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,259 (GRCm39) |
N295S |
probably damaging |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Pcdh12 |
A |
G |
18: 38,415,517 (GRCm39) |
I536T |
probably benign |
Het |
| Pex5l |
G |
T |
3: 33,008,685 (GRCm39) |
|
probably benign |
Het |
| Pla2g2e |
A |
C |
4: 138,608,046 (GRCm39) |
K43Q |
possibly damaging |
Het |
| Rasa4 |
T |
C |
5: 136,130,924 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,328,234 (GRCm39) |
R1079W |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,867,411 (GRCm39) |
T803A |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,297 (GRCm39) |
N602Y |
probably benign |
Het |
| Slc16a13 |
G |
A |
11: 70,109,857 (GRCm39) |
P215S |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,734,527 (GRCm39) |
Q54R |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,745,512 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,797,156 (GRCm39) |
N110D |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,060,902 (GRCm39) |
S2010T |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,223,619 (GRCm39) |
|
probably benign |
Het |
| Sytl5 |
A |
G |
X: 9,860,736 (GRCm39) |
E717G |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,044,679 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,985,060 (GRCm39) |
S179P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,965,153 (GRCm39) |
F1549L |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,212,631 (GRCm39) |
Y5063F |
possibly damaging |
Het |
| Uroc1 |
T |
A |
6: 90,313,937 (GRCm39) |
Y75N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,215,112 (GRCm39) |
T141A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,868,931 (GRCm39) |
K3128E |
probably damaging |
Het |
| Wdr26 |
T |
C |
1: 181,013,470 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
A |
8: 33,738,946 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
C |
T |
2: 120,385,729 (GRCm39) |
V13M |
probably damaging |
Het |
| Zfp456 |
G |
A |
13: 67,514,663 (GRCm39) |
H348Y |
probably damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,063,398 (GRCm39) |
R819H |
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 |
|
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'- CAAATTGGCGAAGACCCTTGACAAC -3'
(R):5'- CGGTGACTGCTATTCCCTTGACTTG -3'
Sequencing Primer
(F):5'- GGGAACAGTGTGTATCTTCCTAAAC -3'
(R):5'- CCTTGACTTGTGGCTTCTCG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation