Incidental Mutation 'R6853:Mtus2'
| ID |
535086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
044956-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R6853 (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 148043821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 803
(K803R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085558]
|
| AlphaFold |
Q3UHD3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085558
AA Change: K803R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: K803R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
G |
T |
15: 12,818,031 (GRCm39) |
D138E |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,140,480 (GRCm39) |
S359P |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,494,331 (GRCm39) |
D355G |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,236,476 (GRCm39) |
W9L |
unknown |
Het |
| Cacul1 |
A |
T |
19: 60,517,904 (GRCm39) |
Y334* |
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,242,933 (GRCm39) |
N227K |
probably benign |
Het |
| Ceacam2 |
T |
C |
7: 25,217,561 (GRCm39) |
N318S |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,019,833 (GRCm39) |
S553R |
possibly damaging |
Het |
| Ctsa |
T |
A |
2: 164,679,284 (GRCm39) |
M331K |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,426,748 (GRCm39) |
Q184H |
probably benign |
Het |
| Cyp2c70 |
C |
T |
19: 40,172,364 (GRCm39) |
E93K |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,071,500 (GRCm39) |
V1267M |
probably damaging |
Het |
| Ddias |
C |
T |
7: 92,508,773 (GRCm39) |
A381T |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,935 (GRCm39) |
C2696Y |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,497,738 (GRCm39) |
F256S |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,938,219 (GRCm39) |
Y198C |
probably damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,387 (GRCm39) |
C421S |
probably damaging |
Het |
| Gm21798 |
A |
T |
15: 64,689,714 (GRCm39) |
|
probably benign |
Het |
| Gm21798 |
A |
T |
15: 64,689,716 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
A |
C |
1: 117,913,874 (GRCm39) |
N252T |
possibly damaging |
Het |
| H2-Q6 |
T |
C |
17: 35,647,335 (GRCm39) |
*327R |
probably null |
Het |
| H6pd |
T |
C |
4: 150,066,919 (GRCm39) |
D489G |
probably benign |
Het |
| Htra2 |
A |
G |
6: 83,030,812 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
T |
G |
13: 70,751,421 (GRCm39) |
E1555A |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,609,402 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
C |
2: 10,120,077 (GRCm39) |
D320G |
probably damaging |
Het |
| Kif1a |
T |
G |
1: 92,967,524 (GRCm39) |
H1129P |
possibly damaging |
Het |
| Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 69,084,915 (GRCm39) |
D609N |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,856,832 (GRCm39) |
D248E |
probably benign |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Msh3 |
A |
G |
13: 92,449,080 (GRCm39) |
|
probably null |
Het |
| Oas1a |
T |
A |
5: 121,045,491 (GRCm39) |
I17L |
possibly damaging |
Het |
| Or2h2c |
G |
A |
17: 37,422,400 (GRCm39) |
T158I |
probably benign |
Het |
| Or5b121 |
T |
A |
19: 13,507,295 (GRCm39) |
I130K |
possibly damaging |
Het |
| Or5k15 |
C |
T |
16: 58,710,121 (GRCm39) |
S154N |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,122 (GRCm39) |
S154C |
probably damaging |
Het |
| Or7g32 |
T |
G |
9: 19,408,102 (GRCm39) |
Y19* |
probably null |
Het |
| Otof |
T |
C |
5: 30,545,583 (GRCm39) |
D539G |
probably damaging |
Het |
| Pabpc4 |
T |
C |
4: 123,188,536 (GRCm39) |
Y382H |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,566 (GRCm39) |
T859A |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,159,751 (GRCm39) |
R504H |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,671,755 (GRCm39) |
F2131S |
probably damaging |
Het |
| Sik1 |
A |
T |
17: 32,073,180 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,798,759 (GRCm39) |
I1763T |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,732,376 (GRCm39) |
I304T |
possibly damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,454,539 (GRCm39) |
S367G |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,743,738 (GRCm39) |
W476R |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,920,551 (GRCm39) |
Y429H |
possibly damaging |
Het |
| Stt3a |
G |
A |
9: 36,653,023 (GRCm39) |
S553F |
possibly damaging |
Het |
| Sult2a1 |
C |
T |
7: 13,535,412 (GRCm39) |
V214I |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,123,656 (GRCm39) |
E38G |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,486,502 (GRCm39) |
G990R |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,911,495 (GRCm39) |
|
probably null |
Het |
| Thumpd2 |
C |
A |
17: 81,372,459 (GRCm39) |
D11Y |
possibly damaging |
Het |
| Tmf1 |
T |
G |
6: 97,145,810 (GRCm39) |
I574L |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,879,499 (GRCm39) |
V623A |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
G |
1: 188,643,434 (GRCm39) |
Y4265* |
probably null |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,771 (GRCm39) |
L114Q |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,063 (GRCm39) |
Y187F |
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 |
|
|
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 |
|
|
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'- GAAGTTGCTTGACCTTATCAGTG -3'
(R):5'- GCACAGGCATCTCCTCTAAC -3'
Sequencing Primer
(F):5'- GCTTGACCTTATCAGTGAAAACC -3'
(R):5'- TTTGCCCCACTCACGGGTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation