Incidental Mutation 'R5372:Mtus2'
ID |
428781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus2
|
Ensembl Gene |
ENSMUSG00000029651 |
Gene Name |
microtubule associated tumor suppressor candidate 2 |
Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
MMRRC Submission |
042948-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.174)
|
Stock # |
R5372 (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 148250222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1319
(T1319A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082694
(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 |
probably benign
Transcript: ENSMUST00000085554
AA Change: T118A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000082690 Gene: ENSMUSG00000029651 AA Change: T118A
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: T1319A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000082694 Gene: ENSMUSG00000029651 AA Change: T1319A
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: T281A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106143 Gene: ENSMUSG00000029651 AA Change: T281A
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 |
possibly damaging
Transcript: ENSMUST00000110515
AA Change: T314A
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106144 Gene: ENSMUSG00000029651 AA Change: T314A
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 |
possibly damaging
Transcript: ENSMUST00000152105
AA Change: T155A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123055 Gene: ENSMUSG00000029651 AA Change: T155A
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 |
0.2467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
96% (89/93) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,848,988 (GRCm39) |
D108E |
probably damaging |
Het |
Abhd12b |
A |
G |
12: 70,227,800 (GRCm39) |
D194G |
probably damaging |
Het |
Adck5 |
A |
G |
15: 76,478,707 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
C |
T |
1: 25,167,940 (GRCm39) |
V792I |
probably benign |
Het |
Anxa8 |
G |
A |
14: 33,815,868 (GRCm39) |
V174M |
probably damaging |
Het |
Apol9b |
A |
T |
15: 77,619,920 (GRCm39) |
R239W |
probably benign |
Het |
Arhgap26 |
A |
G |
18: 38,775,509 (GRCm39) |
|
noncoding transcript |
Het |
Atrnl1 |
A |
G |
19: 57,743,968 (GRCm39) |
Y1190C |
probably benign |
Het |
Brinp3 |
T |
G |
1: 146,707,464 (GRCm39) |
L376R |
probably damaging |
Het |
Btbd2 |
A |
T |
10: 80,484,475 (GRCm39) |
M132K |
probably damaging |
Het |
C130073F10Rik |
A |
T |
4: 101,747,684 (GRCm39) |
I115K |
probably damaging |
Het |
C1ra |
T |
A |
6: 124,498,584 (GRCm39) |
Y426N |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,623,971 (GRCm39) |
V203E |
probably damaging |
Het |
Catsperg1 |
T |
A |
7: 28,910,137 (GRCm39) |
D68V |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,419 (GRCm39) |
S885A |
possibly damaging |
Het |
Cdc42bpa |
T |
C |
1: 179,892,544 (GRCm39) |
V236A |
probably damaging |
Het |
Cdca7 |
A |
T |
2: 72,312,793 (GRCm39) |
E176D |
probably damaging |
Het |
Cdk17 |
A |
G |
10: 93,061,901 (GRCm39) |
D211G |
probably benign |
Het |
Clca3a2 |
A |
C |
3: 144,503,286 (GRCm39) |
M888R |
probably benign |
Het |
Clcn7 |
T |
A |
17: 25,376,153 (GRCm39) |
M568K |
possibly damaging |
Het |
Clip1 |
G |
T |
5: 123,768,303 (GRCm39) |
N811K |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,585,648 (GRCm39) |
Y1243F |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,167,192 (GRCm39) |
D315E |
probably damaging |
Het |
Dgcr2 |
T |
C |
16: 17,690,508 (GRCm39) |
T41A |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,176,962 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,521,031 (GRCm39) |
I1264V |
unknown |
Het |
Fam167b |
A |
T |
4: 129,472,092 (GRCm39) |
L26Q |
possibly damaging |
Het |
Fam178b |
T |
A |
1: 36,603,929 (GRCm39) |
I457F |
possibly damaging |
Het |
Fgd4 |
A |
T |
16: 16,302,155 (GRCm39) |
N133K |
probably benign |
Het |
Fndc1 |
C |
G |
17: 7,984,042 (GRCm39) |
V1295L |
unknown |
Het |
Gad2 |
A |
T |
2: 22,580,255 (GRCm39) |
D552V |
possibly damaging |
Het |
Hars2 |
T |
C |
18: 36,923,534 (GRCm39) |
Y361H |
possibly damaging |
Het |
Heca |
T |
A |
10: 17,790,887 (GRCm39) |
S390C |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 15,009,195 (GRCm39) |
Y132* |
probably null |
Het |
Hormad1 |
T |
A |
3: 95,483,735 (GRCm39) |
D182E |
probably damaging |
Het |
Ifna15 |
G |
A |
4: 88,476,338 (GRCm39) |
P49S |
probably damaging |
Het |
Khsrp |
T |
C |
17: 57,331,292 (GRCm39) |
T429A |
possibly damaging |
Het |
Magi2 |
A |
G |
5: 20,907,108 (GRCm39) |
Q1094R |
possibly damaging |
Het |
Map3k11 |
T |
A |
19: 5,740,990 (GRCm39) |
I239K |
probably damaging |
Het |
Nup54 |
A |
G |
5: 92,565,716 (GRCm39) |
I406T |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,250,819 (GRCm39) |
T43A |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,105,948 (GRCm39) |
E889G |
probably benign |
Het |
Opa1 |
A |
C |
16: 29,404,937 (GRCm39) |
H45P |
probably benign |
Het |
Or14c44 |
T |
A |
7: 86,062,176 (GRCm39) |
I202N |
possibly damaging |
Het |
Or4f60 |
A |
G |
2: 111,902,454 (GRCm39) |
I158T |
probably benign |
Het |
Or56b2j |
A |
G |
7: 104,353,002 (GRCm39) |
D76G |
probably benign |
Het |
Or8a1b |
T |
C |
9: 37,623,234 (GRCm39) |
M114V |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Papola |
A |
G |
12: 105,793,309 (GRCm39) |
K543R |
probably benign |
Het |
Plcxd3 |
G |
A |
15: 4,604,270 (GRCm39) |
V293I |
probably benign |
Het |
Polr2g |
T |
C |
19: 8,774,667 (GRCm39) |
Y72C |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,858,103 (GRCm39) |
K205E |
probably benign |
Het |
Ptpre |
A |
G |
7: 135,255,669 (GRCm39) |
K53E |
possibly damaging |
Het |
Rasal3 |
T |
C |
17: 32,610,318 (GRCm39) |
K990E |
probably benign |
Het |
Rgs3 |
A |
T |
4: 62,570,934 (GRCm39) |
|
probably benign |
Het |
Rhd |
A |
G |
4: 134,611,943 (GRCm39) |
T254A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scube3 |
G |
T |
17: 28,371,456 (GRCm39) |
C57F |
probably damaging |
Het |
Sh2d5 |
A |
G |
4: 137,982,010 (GRCm39) |
D57G |
possibly damaging |
Het |
Slc12a6 |
T |
A |
2: 112,177,705 (GRCm39) |
L608* |
probably null |
Het |
Slk |
A |
T |
19: 47,613,832 (GRCm39) |
N896I |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,332,431 (GRCm39) |
D211G |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,149,386 (GRCm39) |
Y371* |
probably null |
Het |
Srcap |
G |
A |
7: 127,156,785 (GRCm39) |
|
probably null |
Het |
Stard5 |
T |
A |
7: 83,282,428 (GRCm39) |
D80E |
probably damaging |
Het |
Supv3l1 |
C |
T |
10: 62,268,136 (GRCm39) |
V570M |
probably damaging |
Het |
Syt7 |
G |
T |
19: 10,403,985 (GRCm39) |
V180L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,224,990 (GRCm39) |
H558Q |
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,446 (GRCm39) |
M176K |
possibly damaging |
Het |
Tmem135 |
A |
T |
7: 88,814,382 (GRCm39) |
|
probably null |
Het |
Trim35 |
T |
C |
14: 66,534,715 (GRCm39) |
V66A |
possibly damaging |
Het |
Tspan12 |
A |
G |
6: 21,772,698 (GRCm39) |
S284P |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,378,382 (GRCm39) |
K257* |
probably null |
Het |
Uggt1 |
C |
A |
1: 36,283,141 (GRCm39) |
|
probably benign |
Het |
Vmn2r7 |
T |
A |
3: 64,623,745 (GRCm39) |
I283F |
probably damaging |
Het |
Wdfy2 |
T |
G |
14: 63,192,334 (GRCm39) |
H363Q |
probably damaging |
Het |
Wdr4 |
T |
A |
17: 31,729,554 (GRCm39) |
K95N |
probably damaging |
Het |
Zfp141 |
T |
C |
7: 42,126,620 (GRCm39) |
N91S |
possibly damaging |
Het |
Zfp383 |
C |
T |
7: 29,614,695 (GRCm39) |
R317* |
probably null |
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 |
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'- GTCAGCCTCAGTTGCGTTAG -3'
(R):5'- CTTGCACAAGGGTCAGAGAG -3'
Sequencing Primer
(F):5'- CCTCAGTTGCGTTAGTAGGCC -3'
(R):5'- ACGCTGCCTAAGATGCATTG -3'
|
Posted On |
2016-09-06 |