Incidental Mutation 'R9716:Mtus2'
| ID |
730442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R9716 (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 148013464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 86
(K86E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085558]
[ENSMUST00000129092]
|
| AlphaFold |
Q3UHD3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085558
AA Change: K86E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: K86E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,204,274 (GRCm39) |
K178I |
possibly damaging |
Het |
| Adarb1 |
T |
A |
10: 77,131,539 (GRCm39) |
H650L |
possibly damaging |
Het |
| Alms1 |
G |
T |
6: 85,578,234 (GRCm39) |
L187F |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,601,376 (GRCm39) |
N294I |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,460 (GRCm39) |
M360K |
probably benign |
Het |
| Atp6v0d2 |
T |
C |
4: 19,890,834 (GRCm39) |
I109V |
probably benign |
Het |
| C9 |
A |
T |
15: 6,526,430 (GRCm39) |
|
probably null |
Het |
| Calcr |
A |
T |
6: 3,687,468 (GRCm39) |
I510N |
probably benign |
Het |
| Cdc5l |
G |
A |
17: 45,744,500 (GRCm39) |
|
probably benign |
Het |
| Cdca3 |
T |
A |
6: 124,809,172 (GRCm39) |
I104N |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,339,446 (GRCm39) |
|
probably null |
Het |
| Chrna5 |
A |
G |
9: 54,911,919 (GRCm39) |
I240V |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,612 (GRCm39) |
V412A |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,024,148 (GRCm39) |
M1868L |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,742,418 (GRCm39) |
V269A |
probably benign |
Het |
| Eif4b |
T |
C |
15: 101,990,443 (GRCm39) |
S16P |
probably benign |
Het |
| Eppk1 |
G |
A |
15: 75,994,526 (GRCm39) |
T785I |
probably benign |
Het |
| Ezh2 |
T |
C |
6: 47,531,141 (GRCm39) |
Y181C |
possibly damaging |
Het |
| Fem1c |
T |
C |
18: 46,657,561 (GRCm39) |
Y51C |
probably damaging |
Het |
| Garin5a |
A |
T |
7: 44,150,405 (GRCm39) |
E199V |
probably damaging |
Het |
| Glt8d2 |
T |
C |
10: 82,496,644 (GRCm39) |
N138S |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,808,470 (GRCm39) |
*210Q |
probably null |
Het |
| Gm10318 |
T |
A |
10: 77,689,102 (GRCm39) |
V123D |
unknown |
Het |
| Gm5134 |
C |
T |
10: 75,821,943 (GRCm39) |
T259I |
probably benign |
Het |
| Gm6526 |
T |
A |
14: 43,988,309 (GRCm39) |
C187S |
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,189,287 (GRCm39) |
S273T |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,234,348 (GRCm39) |
E238G |
probably benign |
Het |
| Htt |
G |
A |
5: 35,012,019 (GRCm39) |
V1565M |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,625,191 (GRCm39) |
D457V |
possibly damaging |
Het |
| Itpk1 |
C |
T |
12: 102,572,347 (GRCm39) |
|
probably null |
Het |
| Kif20a |
T |
C |
18: 34,762,228 (GRCm39) |
C414R |
possibly damaging |
Het |
| Klra3 |
T |
C |
6: 130,300,602 (GRCm39) |
I256V |
probably damaging |
Het |
| Klrb1a |
T |
C |
6: 128,597,239 (GRCm39) |
T60A |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,741,283 (GRCm39) |
K4592E |
unknown |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,050,446 (GRCm39) |
I360T |
probably damaging |
Het |
| Lmod2 |
G |
A |
6: 24,604,182 (GRCm39) |
V386I |
possibly damaging |
Het |
| Med29 |
T |
C |
7: 28,086,308 (GRCm39) |
I167V |
possibly damaging |
Het |
| Mis18bp1 |
T |
A |
12: 65,205,337 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,232,211 (GRCm39) |
L260Q |
probably damaging |
Het |
| Neurod2 |
T |
C |
11: 98,218,444 (GRCm39) |
Y240C |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,458,313 (GRCm39) |
V2142A |
possibly damaging |
Het |
| Or10ag55-ps1 |
T |
A |
2: 87,115,491 (GRCm39) |
S286T |
probably damaging |
Het |
| Or10c1 |
G |
T |
17: 37,522,355 (GRCm39) |
R130S |
possibly damaging |
Het |
| Or1q1 |
C |
T |
2: 36,887,290 (GRCm39) |
A156V |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,641 (GRCm39) |
S216T |
probably benign |
Het |
| Pcm1 |
T |
A |
8: 41,728,168 (GRCm39) |
S542T |
probably damaging |
Het |
| Pde7a |
C |
T |
3: 19,285,167 (GRCm39) |
G340D |
probably benign |
Het |
| Phkb |
T |
G |
8: 86,604,798 (GRCm39) |
C68G |
probably null |
Het |
| Ppif |
A |
G |
14: 25,695,921 (GRCm39) |
T73A |
possibly damaging |
Het |
| Prkacb |
T |
C |
3: 146,463,475 (GRCm39) |
E79G |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 22,959,650 (GRCm39) |
W49L |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,240,420 (GRCm39) |
E386G |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,212,833 (GRCm39) |
|
probably null |
Het |
| Rrm2 |
T |
C |
12: 24,760,446 (GRCm39) |
Y177H |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGAGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Scn4b |
T |
A |
9: 45,060,639 (GRCm39) |
I180N |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,765 (GRCm39) |
|
probably null |
Het |
| Spa17 |
C |
T |
9: 37,518,921 (GRCm39) |
A73T |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,437 (GRCm39) |
R636Q |
probably benign |
Het |
| Sugp2 |
C |
A |
8: 70,712,370 (GRCm39) |
T995K |
probably damaging |
Het |
| Sumo3 |
T |
A |
10: 77,442,792 (GRCm39) |
V4E |
unknown |
Het |
| Svil |
C |
A |
18: 5,062,370 (GRCm39) |
Q810K |
probably damaging |
Het |
| Tbr1 |
C |
T |
2: 61,635,077 (GRCm39) |
P9L |
probably benign |
Het |
| Tmem26 |
C |
T |
10: 68,576,790 (GRCm39) |
P78L |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,818,136 (GRCm39) |
H42R |
probably benign |
Het |
| Usb1 |
T |
C |
8: 96,070,685 (GRCm39) |
Y204H |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,948 (GRCm39) |
Y812H |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,224 (GRCm39) |
R67G |
possibly damaging |
Het |
| Wdr64 |
A |
T |
1: 175,622,658 (GRCm39) |
I802L |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,725,114 (GRCm39) |
S100P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,392 (GRCm39) |
I128V |
probably benign |
Het |
| Xrn1 |
C |
T |
9: 95,927,632 (GRCm39) |
S1472F |
possibly damaging |
Het |
| Zscan12 |
A |
T |
13: 21,547,938 (GRCm39) |
Y40F |
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 |
|
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 |
|
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'- AAATCCTGTTTTGGTCAGCTGC -3'
(R):5'- TGGACTGGCTTGACCTACTG -3'
Sequencing Primer
(F):5'- TTGGTCAGCTGCGAGATCAC -3'
(R):5'- TGCATTCCTCCAGCTGGAAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation