Incidental Mutation 'PIT4431001:Mtus2'
| ID |
555230 |
| 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 # |
PIT4431001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148013515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 103
(T103A)
|
| 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: T103A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: T103A
| 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
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 90.7%
- 10x: 84.7%
- 20x: 71.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
A |
G |
5: 146,439,322 (GRCm39) |
I29V |
probably benign |
Het |
| 5730455P16Rik |
C |
A |
11: 80,254,750 (GRCm39) |
C357F |
probably damaging |
Het |
| Actr1a |
A |
T |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
C |
G |
11: 7,014,089 (GRCm39) |
Q164E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,295,536 (GRCm39) |
S1176R |
possibly damaging |
Het |
| Atad2b |
A |
G |
12: 5,081,795 (GRCm39) |
T1235A |
possibly damaging |
Het |
| Atosb |
C |
A |
4: 43,036,024 (GRCm39) |
G236C |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 59,892,075 (GRCm39) |
D1091G |
probably benign |
Het |
| Bmp6 |
T |
C |
13: 38,669,906 (GRCm39) |
S397P |
probably benign |
Het |
| C3 |
A |
T |
17: 57,513,242 (GRCm39) |
N1468K |
probably benign |
Het |
| Ccnjl |
CGCG |
CGCGGCG |
11: 43,470,534 (GRCm39) |
|
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,764,231 (GRCm39) |
I100V |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,126,398 (GRCm39) |
R171S |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,455,706 (GRCm39) |
H994R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,441,527 (GRCm39) |
K6N |
probably benign |
Het |
| Cope |
A |
G |
8: 70,765,417 (GRCm39) |
E289G |
probably damaging |
Het |
| Cpne8 |
T |
G |
15: 90,436,178 (GRCm39) |
E279A |
probably damaging |
Het |
| Cyp11a1 |
A |
T |
9: 57,923,555 (GRCm39) |
|
probably null |
Het |
| Dcp2 |
A |
G |
18: 44,545,638 (GRCm39) |
K333R |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,836,496 (GRCm39) |
V329F |
probably benign |
Het |
| Drc1 |
T |
A |
5: 30,504,417 (GRCm39) |
D186E |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,334 (GRCm39) |
Q245* |
probably null |
Het |
| Eef1e1 |
T |
C |
13: 38,842,938 (GRCm39) |
E11G |
probably damaging |
Het |
| Emilin2 |
G |
A |
17: 71,562,990 (GRCm39) |
P915S |
probably benign |
Het |
| Fpgt |
A |
G |
3: 154,792,422 (GRCm39) |
M535T |
possibly damaging |
Het |
| Fxyd3 |
G |
A |
7: 30,770,780 (GRCm39) |
L37F |
probably damaging |
Het |
| Gal3st2c |
T |
A |
1: 93,935,834 (GRCm39) |
I62N |
probably damaging |
Het |
| Gdpd3 |
T |
C |
7: 126,365,647 (GRCm39) |
I2T |
probably benign |
Het |
| Gm9611 |
T |
C |
14: 42,115,888 (GRCm39) |
M169V |
|
Het |
| Ints3 |
G |
A |
3: 90,303,767 (GRCm39) |
T720I |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,256,218 (GRCm39) |
M992L |
probably benign |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,508 (GRCm39) |
H256Q |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,977,426 (GRCm39) |
T1918A |
probably damaging |
Het |
| Lpcat2b |
G |
A |
5: 107,581,997 (GRCm39) |
G442D |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,894,767 (GRCm39) |
V2268M |
|
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
| Mtr |
C |
T |
13: 12,227,329 (GRCm39) |
V772M |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,159,853 (GRCm39) |
I294V |
possibly damaging |
Het |
| Ncam1 |
A |
T |
9: 49,709,993 (GRCm39) |
F13I |
probably benign |
Het |
| Or4a75 |
T |
C |
2: 89,448,201 (GRCm39) |
I112V |
probably benign |
Het |
| Paqr6 |
A |
T |
3: 88,273,084 (GRCm39) |
I52F |
possibly damaging |
Het |
| Pde2a |
T |
G |
7: 101,151,104 (GRCm39) |
V271G |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,276,291 (GRCm39) |
H405R |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,929,786 (GRCm39) |
Y214C |
probably damaging |
Het |
| Pmp22 |
T |
C |
11: 63,042,067 (GRCm39) |
F101L |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,188,318 (GRCm39) |
L520P |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,124,960 (GRCm39) |
T295A |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,475 (GRCm39) |
I415N |
probably damaging |
Het |
| Ptcd2 |
T |
A |
13: 99,476,527 (GRCm39) |
R71* |
probably null |
Het |
| Ptgs1 |
A |
T |
2: 36,130,692 (GRCm39) |
N197I |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,386,047 (GRCm39) |
D333G |
probably damaging |
Het |
| Rfx7 |
T |
A |
9: 72,525,253 (GRCm39) |
H814Q |
probably benign |
Het |
| Rptn |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG |
3: 93,304,704 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,432 (GRCm39) |
H23L |
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,290 (GRCm39) |
V860E |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,124 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,927,467 (GRCm39) |
F120S |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,339 (GRCm39) |
F740S |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,765,396 (GRCm39) |
Y242C |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,195,509 (GRCm39) |
K288R |
probably benign |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,498 (GRCm39) |
S246P |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,688,642 (GRCm39) |
T2315M |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
| Thumpd3 |
T |
A |
6: 113,036,939 (GRCm39) |
N279K |
probably benign |
Het |
| Tmed5 |
T |
A |
5: 108,277,887 (GRCm39) |
H95L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,674 (GRCm39) |
L443P |
probably damaging |
Het |
| Ttc38 |
C |
A |
15: 85,720,328 (GRCm39) |
Q97K |
probably benign |
Het |
| Unc13c |
C |
A |
9: 73,656,829 (GRCm39) |
C1124F |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,896,958 (GRCm39) |
T102A |
possibly damaging |
Het |
| Vwce |
G |
A |
19: 10,641,946 (GRCm39) |
E891K |
possibly damaging |
Het |
| Xkr5 |
A |
T |
8: 18,984,361 (GRCm39) |
S394T |
possibly damaging |
Het |
| Zan |
C |
T |
5: 137,390,326 (GRCm39) |
C4747Y |
unknown |
Het |
| Zfp804a |
T |
C |
2: 82,089,536 (GRCm39) |
F1122L |
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 |
|
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 |
|
| Posted On |
2019-06-07 |
Incidental Mutation