Incidental Mutation 'R7430:Mast3'
| ID |
576398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
045508-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 71232947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 1122
(C1122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148686
(fasta)
|
| 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 |
probably damaging
Transcript: ENSMUST00000166004
AA Change: C1138G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: C1138G
| 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 |
probably damaging
Transcript: ENSMUST00000211948
AA Change: C1122G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0739 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
C |
17: 24,583,932 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
C |
G |
5: 90,443,516 (GRCm39) |
E384Q |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,245,291 (GRCm39) |
V286E |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
| Brms1l |
T |
C |
12: 55,892,084 (GRCm39) |
L126P |
probably damaging |
Het |
| C2cd4d |
G |
A |
3: 94,271,657 (GRCm39) |
V308M |
possibly damaging |
Het |
| Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,128,682 (GRCm39) |
Q905K |
probably benign |
Het |
| Chka |
A |
G |
19: 3,942,787 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,921,834 (GRCm39) |
R30G |
probably benign |
Het |
| Cnih1 |
C |
T |
14: 47,017,679 (GRCm39) |
V52I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,770 (GRCm39) |
M145K |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,550,341 (GRCm39) |
E692G |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,925,363 (GRCm39) |
F1266S |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,618,216 (GRCm39) |
S1245P |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,587,848 (GRCm39) |
H14Q |
probably benign |
Het |
| Fam181b |
G |
A |
7: 92,729,403 (GRCm39) |
V59M |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,941,599 (GRCm39) |
I164N |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,063,793 (GRCm39) |
D4583G |
probably damaging |
Het |
| Fgb |
C |
T |
3: 82,954,014 (GRCm39) |
V75I |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,063,342 (GRCm39) |
D223G |
probably damaging |
Het |
| Gclm |
G |
A |
3: 122,039,729 (GRCm39) |
R32Q |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,811,086 (GRCm39) |
I428N |
possibly damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,357,276 (GRCm39) |
I247F |
probably damaging |
Het |
| Hscb |
T |
A |
5: 110,977,024 (GRCm39) |
I223L |
probably benign |
Het |
| Ifi204 |
C |
T |
1: 173,583,247 (GRCm39) |
A324T |
probably benign |
Het |
| Itgav |
G |
A |
2: 83,624,602 (GRCm39) |
V731M |
probably damaging |
Het |
| Loricrin |
C |
T |
3: 91,989,206 (GRCm39) |
G27S |
unknown |
Het |
| Lpin3 |
A |
G |
2: 160,740,586 (GRCm39) |
D377G |
probably benign |
Het |
| Marveld3 |
A |
G |
8: 110,675,100 (GRCm39) |
S239P |
possibly damaging |
Het |
| Ms4a4d |
A |
G |
19: 11,535,297 (GRCm39) |
I198M |
probably benign |
Het |
| Mup14 |
C |
T |
4: 61,259,447 (GRCm39) |
G35E |
probably damaging |
Het |
| Myh1 |
C |
T |
11: 67,096,393 (GRCm39) |
Q291* |
probably null |
Het |
| Myo1a |
T |
A |
10: 127,542,716 (GRCm39) |
V118E |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,835,035 (GRCm39) |
T794A |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,916 (GRCm39) |
T154A |
probably damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,969 (GRCm39) |
S77T |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,726,650 (GRCm39) |
*313W |
probably null |
Het |
| Ovgp1 |
G |
C |
3: 105,893,618 (GRCm39) |
A464P |
probably damaging |
Het |
| Ovgp1 |
C |
T |
3: 105,893,619 (GRCm39) |
A464V |
possibly damaging |
Het |
| Pde6c |
T |
A |
19: 38,129,887 (GRCm39) |
Y266N |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,351,705 (GRCm39) |
E934* |
probably null |
Het |
| Pgm1 |
T |
A |
4: 99,813,192 (GRCm39) |
M1K |
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,810,242 (GRCm39) |
Y626H |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,277,623 (GRCm39) |
V206D |
probably damaging |
Het |
| Prss29 |
T |
A |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ptges3l |
C |
A |
11: 101,314,641 (GRCm39) |
V85L |
possibly damaging |
Het |
| Riok2 |
T |
C |
17: 17,607,802 (GRCm39) |
L450S |
probably benign |
Het |
| Rpap3 |
A |
T |
15: 97,586,031 (GRCm39) |
L320Q |
possibly damaging |
Het |
| Rptor |
T |
C |
11: 119,737,654 (GRCm39) |
W576R |
probably damaging |
Het |
| Sgk3 |
A |
G |
1: 9,942,483 (GRCm39) |
D85G |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,510 (GRCm39) |
Y449C |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,194,438 (GRCm39) |
S402T |
probably benign |
Het |
| Smad2 |
T |
A |
18: 76,421,151 (GRCm39) |
V160E |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,183,357 (GRCm39) |
V760A |
possibly damaging |
Het |
| Sugt1 |
T |
A |
14: 79,857,241 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 75,980,770 (GRCm39) |
T1509M |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,087,184 (GRCm39) |
L214* |
probably null |
Het |
| Tmem120a |
T |
A |
5: 135,764,990 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
A |
G |
13: 84,430,866 (GRCm39) |
|
probably null |
Het |
| Trim33 |
T |
C |
3: 103,218,219 (GRCm39) |
I256T |
possibly damaging |
Het |
| Tspan17 |
G |
A |
13: 54,943,785 (GRCm39) |
E213K |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,704,888 (GRCm39) |
I631N |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,641,283 (GRCm39) |
L13574F |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,299 (GRCm39) |
D228G |
probably benign |
Het |
| Usf1 |
T |
A |
1: 171,245,295 (GRCm39) |
S236T |
probably benign |
Het |
| Usp39 |
T |
C |
6: 72,319,900 (GRCm39) |
Y106C |
probably damaging |
Het |
| Usp46 |
T |
A |
5: 74,163,849 (GRCm39) |
Y296F |
probably damaging |
Het |
| Vmn2r82 |
A |
G |
10: 79,217,087 (GRCm39) |
N473S |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,241,762 (GRCm39) |
Y51* |
probably null |
Het |
| Zbtb47 |
G |
A |
9: 121,592,732 (GRCm39) |
D351N |
probably benign |
Het |
| Zfp763 |
T |
A |
17: 33,238,506 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Zswim5 |
A |
G |
4: 116,833,054 (GRCm39) |
T596A |
possibly 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 |
|
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 |
|
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 |
|
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'- CCTTGGCCTTGCTTTAATGAAC -3'
(R):5'- TTACCATGTCTGTCCCCAGG -3'
Sequencing Primer
(F):5'- TTCAAAGCCAGGCCTCACTG -3'
(R):5'- TCTGTCCCCAGGCGGAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation