Incidental Mutation 'R0731:Mast3'
| ID |
67560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
038912-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0731 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71233965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 178
(S178P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034296]
[ENSMUST00000166004]
[ENSMUST00000211948]
|
| AlphaFold |
Q3U214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034296
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
7 |
79 |
4e-7 |
SMART |
|
RhoGAP
|
122 |
286 |
2.36e-18 |
SMART |
|
low complexity region
|
291 |
311 |
N/A |
INTRINSIC |
|
SH2
|
322 |
405 |
4.51e-26 |
SMART |
|
Pfam:PI3K_P85_iSH2
|
422 |
590 |
1.7e-64 |
PFAM |
|
SH2
|
614 |
696 |
9.96e-28 |
SMART |
|
low complexity region
|
713 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166004
AA Change: S943P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: S943P
| 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: ENSMUST00000191396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211948
AA Change: S927P
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212140
AA Change: S178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212172
|
| Meta Mutation Damage Score |
0.1250 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
T |
7: 119,367,247 (GRCm39) |
R27* |
probably null |
Het |
| Actg1 |
A |
G |
11: 120,237,775 (GRCm39) |
F255S |
probably damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,262 (GRCm39) |
V501E |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,461 (GRCm39) |
D1444E |
probably damaging |
Het |
| Btaf1 |
T |
G |
19: 36,974,895 (GRCm39) |
|
probably null |
Het |
| Cacnb2 |
A |
G |
2: 14,990,517 (GRCm39) |
H489R |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,455,139 (GRCm39) |
K398N |
probably damaging |
Het |
| Cd79b |
G |
T |
11: 106,203,259 (GRCm39) |
S145R |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,394,651 (GRCm39) |
N264Y |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,785,798 (GRCm39) |
D2892G |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,092,205 (GRCm39) |
|
probably benign |
Het |
| Clk3 |
T |
C |
9: 57,658,409 (GRCm39) |
|
probably benign |
Het |
| Dcaf8 |
A |
T |
1: 172,000,076 (GRCm39) |
D78V |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,160,071 (GRCm39) |
T87A |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,028 (GRCm39) |
N732D |
unknown |
Het |
| Dnah5 |
A |
T |
15: 28,311,289 (GRCm39) |
Y1756F |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,847,055 (GRCm39) |
V858E |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,865,990 (GRCm39) |
F1566S |
probably benign |
Het |
| Fpr-rs7 |
T |
C |
17: 20,334,116 (GRCm39) |
I125V |
probably benign |
Het |
| Fuca2 |
C |
T |
10: 13,381,771 (GRCm39) |
P228L |
probably benign |
Het |
| Galntl6 |
A |
G |
8: 58,989,018 (GRCm39) |
F57L |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,335,449 (GRCm39) |
|
probably benign |
Het |
| Gm16505 |
A |
T |
13: 3,411,329 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4781 |
T |
C |
10: 100,232,639 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9956 |
T |
A |
10: 56,621,639 (GRCm39) |
Y100* |
probably null |
Het |
| Gpr137c |
T |
A |
14: 45,483,806 (GRCm39) |
C178S |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,779,940 (GRCm39) |
R331G |
probably benign |
Het |
| Hlcs |
T |
A |
16: 93,932,711 (GRCm39) |
H851L |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,107 (GRCm39) |
S615G |
probably benign |
Het |
| Kbtbd6 |
C |
A |
14: 79,689,324 (GRCm39) |
Y6* |
probably null |
Het |
| Kif23 |
T |
C |
9: 61,832,314 (GRCm39) |
R610G |
possibly damaging |
Het |
| Kifc3 |
G |
A |
8: 95,832,361 (GRCm39) |
T487I |
probably damaging |
Het |
| Klra5 |
A |
C |
6: 129,885,759 (GRCm39) |
D133E |
possibly damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,668 (GRCm39) |
E100G |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,562,531 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,049,069 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,228,167 (GRCm39) |
I146V |
possibly damaging |
Het |
| Map4k5 |
T |
A |
12: 69,921,038 (GRCm39) |
|
probably benign |
Het |
| Mau2 |
A |
G |
8: 70,476,262 (GRCm39) |
|
probably null |
Het |
| Mgat4f |
A |
C |
1: 134,317,713 (GRCm39) |
M162L |
probably benign |
Het |
| Mkrn2 |
A |
T |
6: 115,591,612 (GRCm39) |
N312Y |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,093,359 (GRCm39) |
E150G |
probably damaging |
Het |
| Myo7b |
T |
A |
18: 32,094,878 (GRCm39) |
|
probably null |
Het |
| Nyap1 |
A |
G |
5: 137,733,560 (GRCm39) |
V491A |
probably damaging |
Het |
| Or10a3 |
A |
T |
7: 108,480,740 (GRCm39) |
N24K |
probably damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,638 (GRCm39) |
M98V |
probably damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,941 (GRCm39) |
I176M |
probably benign |
Het |
| Or8g34 |
T |
C |
9: 39,372,828 (GRCm39) |
F34L |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,240,893 (GRCm38) |
H385Q |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,892,590 (GRCm39) |
S242P |
probably damaging |
Het |
| Pdzd7 |
T |
C |
19: 45,017,744 (GRCm39) |
Y675C |
probably damaging |
Het |
| Pnkd |
T |
A |
1: 74,390,700 (GRCm39) |
H266Q |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 76,983,479 (GRCm39) |
S141P |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,979,518 (GRCm39) |
T214A |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,864,627 (GRCm39) |
E219V |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,422,065 (GRCm39) |
T66A |
probably damaging |
Het |
| Rufy2 |
G |
A |
10: 62,847,623 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,964,165 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
G |
T |
2: 127,068,065 (GRCm39) |
|
probably benign |
Het |
| Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Tacr3 |
G |
A |
3: 134,560,761 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
C |
T |
18: 42,704,905 (GRCm39) |
T978M |
probably damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,252 (GRCm39) |
P126Q |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,556 (GRCm39) |
D860G |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,301 (GRCm39) |
L81P |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,476 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
G |
A |
5: 87,568,311 (GRCm39) |
A328V |
probably damaging |
Het |
| Wfikkn1 |
T |
A |
17: 26,096,991 (GRCm39) |
R444S |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,246,537 (GRCm39) |
T875A |
probably benign |
Het |
| Zfp11 |
A |
G |
5: 129,734,328 (GRCm39) |
S378P |
probably damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,689 (GRCm39) |
N54I |
probably damaging |
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 |
|
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 |
|
R6186:Mast3
|
UTSW |
8 |
71,238,127 (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'- CGTCACTATCACCCATGTAGACACG -3'
(R):5'- TGTCAAGCTCACCCAAGTTGTCCC -3'
Sequencing Primer
(F):5'- CCCATGTAGACACGAATGGC -3'
(R):5'- TCATCATCACGGCAGGTGATATG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation