Incidental Mutation 'R6186:Mast3'
| ID |
502174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
044326-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71238127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 521
(T521A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166004]
[ENSMUST00000211948]
[ENSMUST00000212001]
[ENSMUST00000212038]
[ENSMUST00000212673]
[ENSMUST00000212757]
[ENSMUST00000212875]
[ENSMUST00000212551]
|
| AlphaFold |
Q3U214 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166004
AA Change: T521A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: T521A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF1908
|
64 |
337 |
4.4e-128 |
PFAM |
|
S_TKc
|
373 |
646 |
2.77e-99 |
SMART |
|
S_TK_X
|
647 |
710 |
2.39e-1 |
SMART |
|
low complexity region
|
820 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
942 |
N/A |
INTRINSIC |
|
PDZ
|
958 |
1038 |
3.8e-15 |
SMART |
|
low complexity region
|
1053 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1204 |
N/A |
INTRINSIC |
|
low complexity region
|
1231 |
1248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211841
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211948
AA Change: T505A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212875
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212551
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,298,502 (GRCm39) |
S409P |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,552,018 (GRCm39) |
V420I |
probably benign |
Het |
| Ankrd36 |
T |
G |
11: 5,593,812 (GRCm39) |
D472E |
possibly damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,933 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,258,650 (GRCm39) |
E579K |
possibly damaging |
Het |
| Capn7 |
G |
T |
14: 31,092,875 (GRCm39) |
G780W |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,805,394 (GRCm39) |
E2419G |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,705,407 (GRCm39) |
S363R |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,862,340 (GRCm39) |
I581F |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,273,425 (GRCm39) |
T588N |
probably damaging |
Het |
| Cyp2a5 |
T |
C |
7: 26,542,813 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,291,203 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,845,206 (GRCm39) |
H346R |
unknown |
Het |
| Fam53b |
T |
A |
7: 132,317,445 (GRCm39) |
D399V |
possibly damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,591 (GRCm39) |
N9I |
probably benign |
Het |
| Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,865,153 (GRCm39) |
F307S |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,676,449 (GRCm39) |
I594T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,772,863 (GRCm39) |
V719E |
probably damaging |
Het |
| Ldlr |
C |
T |
9: 21,635,055 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,377,968 (GRCm39) |
V1419A |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,453,126 (GRCm39) |
T340A |
possibly damaging |
Het |
| Mark2 |
A |
G |
19: 7,260,567 (GRCm39) |
V403A |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,853 (GRCm39) |
K546R |
probably damaging |
Het |
| Myo1h |
C |
T |
5: 114,457,864 (GRCm39) |
T125I |
possibly damaging |
Het |
| Ndufa8 |
A |
G |
2: 35,929,752 (GRCm39) |
V118A |
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,165,059 (GRCm39) |
T551A |
probably damaging |
Het |
| Or2k2 |
T |
C |
4: 58,784,948 (GRCm39) |
Y258C |
probably damaging |
Het |
| Or4k15c |
T |
A |
14: 50,321,982 (GRCm39) |
D52V |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,746,830 (GRCm39) |
L1343P |
probably benign |
Het |
| Pdcd1 |
T |
A |
1: 93,967,846 (GRCm39) |
R202* |
probably null |
Het |
| Pramel52-ps |
T |
A |
5: 94,531,835 (GRCm39) |
Y240N |
probably benign |
Het |
| Prkab2 |
A |
G |
3: 97,571,307 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
C |
7: 140,734,862 (GRCm39) |
|
probably benign |
Het |
| Rap1b |
G |
T |
10: 117,656,457 (GRCm39) |
F78L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,833,358 (GRCm39) |
T711I |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,693 (GRCm39) |
I126T |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,851 (GRCm39) |
D238Y |
possibly damaging |
Het |
| Rnf123 |
A |
C |
9: 107,947,157 (GRCm39) |
S210A |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 44,001,990 (GRCm39) |
F1228L |
probably benign |
Het |
| Spata31f3 |
T |
C |
4: 42,872,000 (GRCm39) |
K125R |
possibly damaging |
Het |
| Sumo1 |
C |
A |
1: 59,683,729 (GRCm39) |
V38L |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 178,025,353 (GRCm39) |
S363N |
probably damaging |
Het |
| Tbx2 |
G |
T |
11: 85,728,672 (GRCm39) |
E352* |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,316,824 (GRCm39) |
N270D |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,577,891 (GRCm39) |
Q267L |
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,695,483 (GRCm39) |
|
probably benign |
Het |
| Ushbp1 |
T |
A |
8: 71,843,647 (GRCm39) |
T264S |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,423,383 (GRCm39) |
Y334C |
probably damaging |
Het |
| Wdr36 |
G |
C |
18: 32,985,954 (GRCm39) |
A553P |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,300,617 (GRCm39) |
I2378K |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,982,672 (GRCm39) |
Y145* |
probably null |
Het |
| Zfp458 |
T |
C |
13: 67,405,701 (GRCm39) |
E246G |
probably damaging |
Het |
| Zfp526 |
A |
G |
7: 24,925,561 (GRCm39) |
T607A |
probably benign |
Het |
|
| Other mutations in Mast3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Mast3
|
APN |
8 |
71,233,327 (GRCm39) |
splice site |
probably benign |
|
|
IGL01411:Mast3
|
APN |
8 |
71,232,227 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01475:Mast3
|
APN |
8 |
71,232,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Mast3
|
APN |
8 |
71,234,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02104:Mast3
|
APN |
8 |
71,240,550 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02236:Mast3
|
APN |
8 |
71,241,888 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02437:Mast3
|
APN |
8 |
71,233,202 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02704:Mast3
|
APN |
8 |
71,239,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Mast3
|
APN |
8 |
71,241,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Mast3
|
APN |
8 |
71,234,207 (GRCm39) |
nonsense |
probably null |
|
|
gravy
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stuffing
|
UTSW |
8 |
71,237,441 (GRCm39) |
frame shift |
probably null |
|
|
turkey
|
UTSW |
8 |
71,238,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Mast3
|
UTSW |
8 |
71,236,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0280:Mast3
|
UTSW |
8 |
71,240,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0280:Mast3
|
UTSW |
8 |
71,236,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Mast3
|
UTSW |
8 |
71,233,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Mast3
|
UTSW |
8 |
71,239,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Mast3
|
UTSW |
8 |
71,232,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Mast3
|
UTSW |
8 |
71,240,916 (GRCm39) |
splice site |
probably null |
|
|
R1208:Mast3
|
UTSW |
8 |
71,240,916 (GRCm39) |
splice site |
probably null |
|
|
R1333:Mast3
|
UTSW |
8 |
71,233,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Mast3
|
UTSW |
8 |
71,244,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1544:Mast3
|
UTSW |
8 |
71,238,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Mast3
|
UTSW |
8 |
71,237,200 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1842:Mast3
|
UTSW |
8 |
71,233,037 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1936:Mast3
|
UTSW |
8 |
71,237,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Mast3
|
UTSW |
8 |
71,240,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Mast3
|
UTSW |
8 |
71,233,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2220:Mast3
|
UTSW |
8 |
71,233,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3711:Mast3
|
UTSW |
8 |
71,232,251 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3919:Mast3
|
UTSW |
8 |
71,232,066 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4027:Mast3
|
UTSW |
8 |
71,240,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Mast3
|
UTSW |
8 |
71,233,251 (GRCm39) |
nonsense |
probably null |
|
|
R4672:Mast3
|
UTSW |
8 |
71,237,441 (GRCm39) |
frame shift |
probably null |
|
|
R4770:Mast3
|
UTSW |
8 |
71,238,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Mast3
|
UTSW |
8 |
71,233,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Mast3
|
UTSW |
8 |
71,241,559 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5196:Mast3
|
UTSW |
8 |
71,240,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Mast3
|
UTSW |
8 |
71,236,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5428:Mast3
|
UTSW |
8 |
71,237,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5656:Mast3
|
UTSW |
8 |
71,238,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Mast3
|
UTSW |
8 |
71,240,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6177:Mast3
|
UTSW |
8 |
71,242,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6407:Mast3
|
UTSW |
8 |
71,234,772 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6614:Mast3
|
UTSW |
8 |
71,234,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6804:Mast3
|
UTSW |
8 |
71,239,376 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6873:Mast3
|
UTSW |
8 |
71,239,236 (GRCm39) |
nonsense |
probably null |
|
|
R6930:Mast3
|
UTSW |
8 |
71,252,115 (GRCm39) |
nonsense |
probably null |
|
|
R6948:Mast3
|
UTSW |
8 |
71,238,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Mast3
|
UTSW |
8 |
71,232,117 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7253:Mast3
|
UTSW |
8 |
71,242,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7316:Mast3
|
UTSW |
8 |
71,232,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Mast3
|
UTSW |
8 |
71,237,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Mast3
|
UTSW |
8 |
71,238,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Mast3
|
UTSW |
8 |
71,232,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Mast3
|
UTSW |
8 |
71,232,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7521:Mast3
|
UTSW |
8 |
71,241,412 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7576:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7998:Mast3
|
UTSW |
8 |
71,236,214 (GRCm39) |
missense |
probably benign |
|
|
R8021:Mast3
|
UTSW |
8 |
71,240,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8204:Mast3
|
UTSW |
8 |
71,240,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8327:Mast3
|
UTSW |
8 |
71,232,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Mast3
|
UTSW |
8 |
71,233,085 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8415:Mast3
|
UTSW |
8 |
71,233,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Mast3
|
UTSW |
8 |
71,233,085 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8530:Mast3
|
UTSW |
8 |
71,240,877 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8891:Mast3
|
UTSW |
8 |
71,233,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Mast3
|
UTSW |
8 |
71,234,377 (GRCm39) |
splice site |
probably benign |
|
|
R9002:Mast3
|
UTSW |
8 |
71,233,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Mast3
|
UTSW |
8 |
71,249,361 (GRCm39) |
missense |
unknown |
|
|
R9087:Mast3
|
UTSW |
8 |
71,242,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9148:Mast3
|
UTSW |
8 |
71,233,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9364:Mast3
|
UTSW |
8 |
71,238,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Mast3
|
UTSW |
8 |
71,238,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mast3
|
UTSW |
8 |
71,241,682 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACACACATGGGAAATGAGGC -3'
(R):5'- CAACCACAGAGTGAGAGGTC -3'
Sequencing Primer
(F):5'- CACATGGGAAATGAGGCTAGCC -3'
(R):5'- GCCACATGAGCAAGACAGTTTTTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation