Incidental Mutation 'R4770:Mast3'
ID |
367413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast3
|
Ensembl Gene |
ENSMUSG00000031833 |
Gene Name |
microtubule associated serine/threonine kinase 3 |
Synonyms |
|
MMRRC Submission |
042410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4770 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 71238864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 480
(T480M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166004]
[ENSMUST00000211948]
[ENSMUST00000212001]
[ENSMUST00000212038]
[ENSMUST00000212551]
[ENSMUST00000212757]
[ENSMUST00000212875]
[ENSMUST00000212673]
|
AlphaFold |
Q3U214 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166004
AA Change: T496M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128703 Gene: ENSMUSG00000031833 AA Change: T496M
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: T480M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: ENSMUST00000212551
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212757
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212875
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212673
|
Meta Mutation Damage Score |
0.4734 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
93% (89/96) |
Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,962,341 (GRCm39) |
V503A |
possibly damaging |
Het |
Agps |
T |
A |
2: 75,722,199 (GRCm39) |
F463Y |
possibly damaging |
Het |
Ajm1 |
G |
A |
2: 25,469,759 (GRCm39) |
R51C |
possibly damaging |
Het |
Amigo3 |
A |
T |
9: 107,930,734 (GRCm39) |
L52F |
probably damaging |
Het |
Anapc1 |
T |
C |
2: 128,527,980 (GRCm39) |
|
probably benign |
Het |
Ankrd36 |
G |
T |
11: 5,540,870 (GRCm39) |
C312F |
possibly damaging |
Het |
Asic2 |
A |
C |
11: 80,862,318 (GRCm39) |
D226E |
probably benign |
Het |
Atp8b2 |
T |
A |
3: 89,864,374 (GRCm39) |
Q197L |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,092,642 (GRCm39) |
Y495C |
probably damaging |
Het |
Ccdc51 |
A |
G |
9: 108,919,978 (GRCm39) |
T125A |
probably benign |
Het |
Ccser1 |
A |
G |
6: 61,288,485 (GRCm39) |
Y216C |
possibly damaging |
Het |
Cimap1b |
A |
G |
15: 89,263,326 (GRCm39) |
I19T |
probably damaging |
Het |
Cntfr |
A |
T |
4: 41,663,282 (GRCm39) |
I175N |
possibly damaging |
Het |
Cox10 |
G |
A |
11: 63,854,989 (GRCm39) |
R431W |
probably benign |
Het |
Cubn |
T |
C |
2: 13,319,578 (GRCm39) |
T2881A |
possibly damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,336,774 (GRCm39) |
V41E |
probably damaging |
Het |
Dmrtb1 |
C |
T |
4: 107,540,986 (GRCm39) |
G125D |
probably benign |
Het |
Dscaml1 |
C |
T |
9: 45,581,404 (GRCm39) |
R408C |
probably damaging |
Het |
Duox2 |
A |
T |
2: 122,115,397 (GRCm39) |
S1052T |
probably benign |
Het |
Ecm1 |
A |
G |
3: 95,645,273 (GRCm39) |
|
probably benign |
Het |
Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
Epb41l1 |
T |
A |
2: 156,371,344 (GRCm39) |
M727K |
probably benign |
Het |
Exosc9 |
T |
C |
3: 36,607,984 (GRCm39) |
V64A |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,517,630 (GRCm39) |
I564N |
probably damaging |
Het |
Fam89b |
C |
A |
19: 5,779,482 (GRCm39) |
R25L |
probably damaging |
Het |
Fgr |
C |
T |
4: 132,714,602 (GRCm39) |
T98M |
probably damaging |
Het |
Fhip2b |
T |
A |
14: 70,825,727 (GRCm39) |
D351V |
probably damaging |
Het |
Gapvd1 |
A |
G |
2: 34,581,193 (GRCm39) |
S1089P |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,213,837 (GRCm39) |
I544F |
possibly damaging |
Het |
Gli2 |
C |
A |
1: 118,910,318 (GRCm39) |
|
probably benign |
Het |
Gm9934 |
A |
G |
7: 92,702,192 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
A |
T |
12: 16,731,357 (GRCm39) |
D1660E |
probably benign |
Het |
Gtf2i |
T |
A |
5: 134,272,414 (GRCm39) |
N750I |
possibly damaging |
Het |
H2-DMb2 |
G |
C |
17: 34,367,698 (GRCm39) |
D171H |
probably damaging |
Het |
Il11ra1 |
A |
G |
4: 41,768,187 (GRCm39) |
E366G |
probably damaging |
Het |
Itga2b |
A |
G |
11: 102,351,582 (GRCm39) |
F581S |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,677,892 (GRCm39) |
M83K |
probably damaging |
Het |
Kif27 |
G |
A |
13: 58,492,191 (GRCm39) |
T316M |
probably damaging |
Het |
Lad1 |
A |
T |
1: 135,753,531 (GRCm39) |
Q26L |
probably damaging |
Het |
Lrrn3 |
T |
A |
12: 41,502,442 (GRCm39) |
H625L |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,655,875 (GRCm39) |
V155A |
probably benign |
Het |
Mpc1 |
C |
T |
17: 8,512,377 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,457,380 (GRCm39) |
M1606L |
probably benign |
Het |
Myo1c |
T |
A |
11: 75,551,139 (GRCm39) |
L238* |
probably null |
Het |
Nanog |
T |
G |
6: 122,688,550 (GRCm39) |
S44A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,039,165 (GRCm39) |
Q6958R |
probably benign |
Het |
Ngef |
C |
T |
1: 87,405,283 (GRCm39) |
R709H |
probably damaging |
Het |
Nr1d1 |
A |
G |
11: 98,661,471 (GRCm39) |
V265A |
probably benign |
Het |
Nr3c2 |
A |
G |
8: 77,634,872 (GRCm39) |
|
probably null |
Het |
Olfm5 |
A |
G |
7: 103,809,685 (GRCm39) |
S164P |
probably benign |
Het |
Parvb |
T |
C |
15: 84,188,106 (GRCm39) |
|
probably null |
Het |
Pde4dip |
G |
T |
3: 97,674,400 (GRCm39) |
A172D |
probably damaging |
Het |
Phf2 |
A |
G |
13: 48,957,079 (GRCm39) |
L1096P |
probably damaging |
Het |
Pik3r6 |
T |
A |
11: 68,420,720 (GRCm39) |
V155E |
probably damaging |
Het |
Pinx1 |
T |
G |
14: 64,109,820 (GRCm39) |
V124G |
probably damaging |
Het |
Poglut1 |
A |
G |
16: 38,355,119 (GRCm39) |
Y236H |
probably damaging |
Het |
Pou4f2 |
T |
A |
8: 79,163,030 (GRCm39) |
M2L |
unknown |
Het |
Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
Pramel26 |
C |
T |
4: 143,538,519 (GRCm39) |
E151K |
probably damaging |
Het |
Prkaca |
A |
G |
8: 84,717,499 (GRCm39) |
N209S |
probably benign |
Het |
Ring1 |
G |
A |
17: 34,242,361 (GRCm39) |
P49S |
probably damaging |
Het |
Rnf20 |
T |
A |
4: 49,633,412 (GRCm39) |
|
probably null |
Het |
Rnf25 |
G |
A |
1: 74,633,099 (GRCm39) |
R418C |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,808,707 (GRCm39) |
P462Q |
probably damaging |
Het |
Serpinb3d |
A |
G |
1: 107,006,008 (GRCm39) |
F360S |
probably damaging |
Het |
Setd7 |
T |
C |
3: 51,428,843 (GRCm39) |
E329G |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,320,156 (GRCm39) |
|
probably null |
Het |
Snap91 |
G |
A |
9: 86,655,654 (GRCm39) |
T844I |
possibly damaging |
Het |
Snhg5 |
C |
T |
9: 88,404,424 (GRCm39) |
|
noncoding transcript |
Het |
Son |
T |
A |
16: 91,455,756 (GRCm39) |
V1501E |
probably damaging |
Het |
Syncrip |
T |
A |
9: 88,361,905 (GRCm39) |
E70V |
probably damaging |
Het |
Tas2r125 |
A |
G |
6: 132,886,750 (GRCm39) |
D46G |
probably damaging |
Het |
Tmem115 |
G |
A |
9: 107,412,156 (GRCm39) |
R160Q |
probably benign |
Het |
Trerf1 |
G |
A |
17: 47,630,581 (GRCm39) |
|
noncoding transcript |
Het |
Tut7 |
A |
G |
13: 59,920,698 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,266,466 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
T |
1: 188,282,076 (GRCm39) |
V1864F |
probably benign |
Het |
Xkr4 |
A |
T |
1: 3,286,714 (GRCm39) |
V492D |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,482,649 (GRCm39) |
S1609T |
possibly damaging |
Het |
Zfp65 |
A |
T |
13: 67,856,477 (GRCm39) |
H277Q |
probably damaging |
Het |
Zfp69 |
A |
G |
4: 120,791,614 (GRCm39) |
S176P |
probably damaging |
Het |
Zfp747 |
C |
T |
7: 126,974,971 (GRCm39) |
A10T |
probably damaging |
Het |
Zfp850 |
T |
C |
7: 27,684,411 (GRCm39) |
|
probably null |
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 |
|
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'- TTCCACCCTAAAGGCAGAGC -3'
(R):5'- CATCTTAGAATGCTACCCTGCTG -3'
Sequencing Primer
(F):5'- GCAGGGTCTCTCTGTTGCC -3'
(R):5'- TGCTGGGCAGAACCTATAGACC -3'
|
Posted On |
2015-12-29 |