Incidental Mutation 'R9087:Mast3'
ID |
690690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast3
|
Ensembl Gene |
ENSMUSG00000031833 |
Gene Name |
microtubule associated serine/threonine kinase 3 |
Synonyms |
|
MMRRC Submission |
068906-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9087 (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 71242330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 90
(D90G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166004]
[ENSMUST00000211948]
[ENSMUST00000212001]
[ENSMUST00000212038]
[ENSMUST00000212551]
[ENSMUST00000212673]
[ENSMUST00000212757]
[ENSMUST00000212875]
|
AlphaFold |
Q3U214 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166004
|
SMART Domains |
Protein: ENSMUSP00000128703 Gene: ENSMUSG00000031833
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 benign
Transcript: ENSMUST00000211948
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212001
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212038
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212551
AA Change: D90G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212673
AA Change: D62G
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212757
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212875
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
G |
8: 111,768,169 (GRCm39) |
D180G |
probably damaging |
Het |
Abcb6 |
A |
T |
1: 75,150,211 (GRCm39) |
I649K |
probably damaging |
Het |
Ace |
T |
C |
11: 105,872,745 (GRCm39) |
F969S |
probably damaging |
Het |
Ankrd26 |
A |
G |
6: 118,536,230 (GRCm39) |
|
probably null |
Het |
Apobec1 |
A |
T |
6: 122,558,700 (GRCm39) |
L9* |
probably null |
Het |
Atp13a1 |
A |
G |
8: 70,256,457 (GRCm39) |
D865G |
probably damaging |
Het |
Barhl1 |
T |
C |
2: 28,805,231 (GRCm39) |
Y154C |
probably damaging |
Het |
Bbx |
T |
C |
16: 50,094,998 (GRCm39) |
D106G |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,365,432 (GRCm39) |
A2192T |
probably benign |
Het |
Cacnb1 |
T |
C |
11: 97,893,833 (GRCm39) |
N563S |
possibly damaging |
Het |
Capn5 |
A |
T |
7: 97,775,531 (GRCm39) |
I470N |
probably damaging |
Het |
Cd300c |
T |
C |
11: 114,850,591 (GRCm39) |
T71A |
probably damaging |
Het |
Celf4 |
T |
A |
18: 25,637,327 (GRCm39) |
S223C |
probably damaging |
Het |
Cftr |
A |
C |
6: 18,214,180 (GRCm39) |
I119L |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,233,711 (GRCm39) |
E459G |
possibly damaging |
Het |
Cntn2 |
A |
G |
1: 132,453,108 (GRCm39) |
Y395H |
probably damaging |
Het |
Cntnap3 |
T |
C |
13: 64,899,532 (GRCm39) |
D987G |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,481,818 (GRCm39) |
D102V |
unknown |
Het |
Cpeb2 |
T |
C |
5: 43,438,461 (GRCm39) |
F812L |
|
Het |
Cpsf3 |
T |
A |
12: 21,358,995 (GRCm39) |
L565Q |
probably damaging |
Het |
Ctnnd1 |
A |
C |
2: 84,439,922 (GRCm39) |
L796R |
probably damaging |
Het |
Dach1 |
A |
G |
14: 98,406,267 (GRCm39) |
L160P |
probably benign |
Het |
Dennd1a |
A |
C |
2: 37,911,366 (GRCm39) |
|
probably null |
Het |
Dnah12 |
T |
C |
14: 26,546,503 (GRCm39) |
I2431T |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,815,430 (GRCm39) |
Y2887* |
probably null |
Het |
Erich1 |
T |
C |
8: 14,083,623 (GRCm39) |
D149G |
probably damaging |
Het |
Fut2 |
T |
C |
7: 45,300,493 (GRCm39) |
N93S |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,568,304 (GRCm39) |
A688T |
probably benign |
Het |
Gcm2 |
C |
G |
13: 41,263,406 (GRCm39) |
E9Q |
|
Het |
Gfod1 |
T |
C |
13: 43,353,838 (GRCm39) |
E379G |
probably damaging |
Het |
Gfod2 |
A |
G |
8: 106,454,851 (GRCm39) |
F10L |
probably damaging |
Het |
Gm4871 |
T |
G |
5: 144,969,088 (GRCm39) |
H75P |
possibly damaging |
Het |
Gtpbp3 |
T |
A |
8: 71,944,999 (GRCm39) |
V418E |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,989,099 (GRCm39) |
I688K |
probably benign |
Het |
Ifi44 |
G |
T |
3: 151,451,517 (GRCm39) |
S196R |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,902,606 (GRCm39) |
|
probably null |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kl |
A |
G |
5: 150,911,957 (GRCm39) |
K569E |
probably benign |
Het |
Klkb1 |
G |
A |
8: 45,728,515 (GRCm39) |
Q415* |
probably null |
Het |
L1td1 |
A |
G |
4: 98,624,699 (GRCm39) |
D298G |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,749,131 (GRCm39) |
R252Q |
probably benign |
Het |
Lipc |
C |
G |
9: 70,709,390 (GRCm39) |
K452N |
probably benign |
Het |
Lrp10 |
C |
A |
14: 54,705,621 (GRCm39) |
S270R |
probably damaging |
Het |
Ly6e |
T |
G |
15: 74,829,649 (GRCm39) |
L14R |
probably benign |
Het |
Mmp27 |
T |
C |
9: 7,579,858 (GRCm39) |
F444S |
probably damaging |
Het |
Mrgpra2b |
A |
T |
7: 47,114,518 (GRCm39) |
N71K |
probably benign |
Het |
Nbea |
C |
A |
3: 55,550,157 (GRCm39) |
|
probably null |
Het |
Ndufb10 |
A |
G |
17: 24,943,159 (GRCm39) |
|
probably null |
Het |
Ndufb9 |
C |
T |
15: 58,811,151 (GRCm39) |
P146S |
probably benign |
Het |
Nhsl1 |
T |
C |
10: 18,407,030 (GRCm39) |
V1388A |
probably damaging |
Het |
Nomo1 |
C |
A |
7: 45,732,748 (GRCm39) |
D1170E |
probably benign |
Het |
Nop2 |
G |
T |
6: 125,114,391 (GRCm39) |
R254L |
probably benign |
Het |
Nup160 |
A |
T |
2: 90,514,429 (GRCm39) |
T126S |
probably benign |
Het |
Opa1 |
A |
G |
16: 29,437,053 (GRCm39) |
D654G |
probably damaging |
Het |
Or1j15 |
T |
C |
2: 36,459,345 (GRCm39) |
L245P |
probably damaging |
Het |
Or2j6 |
A |
T |
7: 139,980,547 (GRCm39) |
C137* |
probably null |
Het |
Or51h1 |
A |
G |
7: 102,308,964 (GRCm39) |
K312R |
probably benign |
Het |
Or52e8b |
C |
T |
7: 104,673,910 (GRCm39) |
W92* |
probably null |
Het |
Or5aq1b |
A |
G |
2: 86,902,299 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p68 |
A |
G |
7: 107,945,958 (GRCm39) |
S77P |
probably damaging |
Het |
Or8b52 |
A |
G |
9: 38,576,711 (GRCm39) |
L143P |
probably damaging |
Het |
Or8k18 |
A |
G |
2: 86,085,380 (GRCm39) |
M219T |
probably benign |
Het |
Osbp2 |
T |
A |
11: 3,667,976 (GRCm39) |
D7V |
probably damaging |
Het |
Osr2 |
A |
T |
15: 35,301,010 (GRCm39) |
I189F |
probably damaging |
Het |
Pdlim5 |
A |
G |
3: 142,058,594 (GRCm39) |
V50A |
possibly damaging |
Het |
Pik3r3 |
A |
G |
4: 116,148,931 (GRCm39) |
N334S |
probably benign |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,240,326 (GRCm39) |
I889T |
probably damaging |
Het |
Prpf38b |
T |
C |
3: 108,811,657 (GRCm39) |
K403E |
unknown |
Het |
Rgs20 |
T |
G |
1: 4,994,190 (GRCm39) |
E31A |
possibly damaging |
Het |
Rpl11 |
A |
T |
4: 135,780,000 (GRCm39) |
M12K |
possibly damaging |
Het |
Rreb1 |
C |
A |
13: 38,115,644 (GRCm39) |
T1001K |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,474,355 (GRCm39) |
K453E |
probably benign |
Het |
Sdc4 |
A |
T |
2: 164,270,959 (GRCm39) |
V100D |
probably benign |
Het |
Simc1 |
C |
A |
13: 54,672,147 (GRCm39) |
T165K |
probably benign |
Het |
Slc2a3 |
A |
G |
6: 122,717,408 (GRCm39) |
V16A |
probably benign |
Het |
Smbd1 |
A |
T |
16: 32,627,130 (GRCm39) |
S53T |
possibly damaging |
Het |
Smndc1 |
A |
T |
19: 53,372,074 (GRCm39) |
N113K |
possibly damaging |
Het |
Tas2r139 |
T |
G |
6: 42,118,168 (GRCm39) |
F100C |
probably damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,467,106 (GRCm39) |
Y692C |
probably damaging |
Het |
Ube2d2a |
T |
C |
18: 35,933,197 (GRCm39) |
I78T |
probably benign |
Het |
Ugt2b37 |
C |
T |
5: 87,401,996 (GRCm39) |
V212I |
probably benign |
Het |
Wars2 |
A |
G |
3: 99,124,063 (GRCm39) |
D308G |
possibly damaging |
Het |
Yeats2 |
G |
A |
16: 20,030,500 (GRCm39) |
|
probably null |
Het |
Zfp385a |
G |
T |
15: 103,224,318 (GRCm39) |
H219N |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,227,982 (GRCm39) |
T1876A |
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 |
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 |
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 |
|
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'- CAACTCAGGGATATCCAAGGGG -3'
(R):5'- TCGGAACTTCTCTGCTGCAG -3'
Sequencing Primer
(F):5'- TGGTGGAATTAAAGGCCC -3'
(R):5'- GCAGCAGCCATCAGTTTCC -3'
|
Posted On |
2021-12-30 |