Incidental Mutation 'R9779:Mast3'
| ID |
733912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9779 (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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
G |
11: 53,263,734 (GRCm39) |
Y251* |
probably null |
Het |
| Amdhd1 |
G |
T |
10: 93,370,474 (GRCm39) |
F121L |
possibly damaging |
Het |
| Apon |
A |
T |
10: 128,091,065 (GRCm39) |
T248S |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,152,764 (GRCm39) |
I719K |
probably benign |
Het |
| Atf7ip2 |
A |
T |
16: 10,055,044 (GRCm39) |
K270N |
possibly damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,291,919 (GRCm39) |
V881A |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,924,938 (GRCm39) |
T341M |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,968,348 (GRCm39) |
V944A |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,230,786 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,552,113 (GRCm39) |
T342A |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,998,323 (GRCm39) |
E405G |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,460,525 (GRCm39) |
S478P |
probably benign |
Het |
| Diablo |
A |
G |
5: 123,662,132 (GRCm39) |
|
probably null |
Het |
| Dnajc8 |
A |
G |
4: 132,277,737 (GRCm39) |
E174G |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,251 (GRCm39) |
V336A |
probably damaging |
Het |
| Eif5a |
C |
T |
11: 69,810,021 (GRCm39) |
V41I |
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,545,093 (GRCm39) |
|
probably null |
Het |
| F12 |
A |
C |
13: 55,566,012 (GRCm39) |
V565G |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,717,353 (GRCm39) |
T389N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,623,062 (GRCm39) |
D69E |
probably benign |
Het |
| Golph3l |
C |
T |
3: 95,499,041 (GRCm39) |
T61I |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,561,656 (GRCm39) |
N731K |
possibly damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,750,629 (GRCm39) |
S484F |
possibly damaging |
Het |
| Hsd17b11 |
C |
A |
5: 104,157,771 (GRCm39) |
V114F |
probably damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,778 (GRCm39) |
V42M |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,654,065 (GRCm39) |
Y201C |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,574,786 (GRCm39) |
P786T |
unknown |
Het |
| Ints12 |
T |
G |
3: 132,812,752 (GRCm39) |
V236G |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,348,147 (GRCm39) |
N818S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,882,485 (GRCm39) |
L853P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,829,006 (GRCm39) |
V42A |
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,751,807 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra2 |
G |
A |
6: 131,198,801 (GRCm39) |
P247S |
unknown |
Het |
| Lrba |
T |
C |
3: 86,233,078 (GRCm39) |
I813T |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,816,886 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,789 (GRCm39) |
T4046I |
probably benign |
Het |
| Meox1 |
T |
C |
11: 101,769,470 (GRCm39) |
E242G |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,886,009 (GRCm39) |
L316* |
probably null |
Het |
| Notch3 |
A |
G |
17: 32,372,757 (GRCm39) |
Y605H |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,719,352 (GRCm39) |
D650G |
probably damaging |
Het |
| Obscn |
C |
A |
11: 59,026,441 (GRCm39) |
R254L |
probably benign |
Het |
| Odam |
G |
A |
5: 88,037,327 (GRCm39) |
|
probably null |
Het |
| Or5v1b |
A |
T |
17: 37,841,048 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,900,135 (GRCm39) |
M284L |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,253 (GRCm39) |
M416L |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,947,882 (GRCm39) |
I500N |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,854,318 (GRCm39) |
S285P |
possibly damaging |
Het |
| Rab14 |
G |
A |
2: 35,080,047 (GRCm39) |
T50I |
|
Het |
| Rag1 |
A |
T |
2: 101,474,153 (GRCm39) |
Y330N |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rasgrf1 |
G |
T |
9: 89,873,551 (GRCm39) |
C620F |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,214,317 (GRCm39) |
T143A |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,767,965 (GRCm39) |
M609R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,543,186 (GRCm39) |
D316G |
probably benign |
Het |
| Sod3 |
G |
A |
5: 52,525,435 (GRCm39) |
V45I |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,802 (GRCm39) |
D647G |
probably benign |
Het |
| Tmem119 |
G |
A |
5: 113,933,204 (GRCm39) |
S199L |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,104,419 (GRCm39) |
I80N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,066,469 (GRCm39) |
D752E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,570 (GRCm39) |
S31571P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,667,146 (GRCm39) |
S11487T |
unknown |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,111 (GRCm39) |
M1T |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,308 (GRCm39) |
S279T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,798,972 (GRCm39) |
V3635A |
|
Het |
| Wdr95 |
A |
G |
5: 149,505,293 (GRCm39) |
D358G |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,108,064 (GRCm39) |
D8G |
possibly damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,469 (GRCm39) |
C173S |
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 |
|
|
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 |
|
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 |
2022-11-14 |
Incidental Mutation