Incidental Mutation 'R8167:Mast1'
| ID |
633844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
067593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85647987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 498
(R498L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
| AlphaFold |
Q9R1L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109741
AA Change: R498L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: R498L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
337 |
1.4e-136 |
PFAM |
|
S_TKc
|
376 |
649 |
4.07e-97 |
SMART |
|
S_TK_X
|
650 |
710 |
6.23e-2 |
SMART |
|
low complexity region
|
820 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
961 |
N/A |
INTRINSIC |
|
PDZ
|
977 |
1057 |
3.49e-14 |
SMART |
|
low complexity region
|
1104 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1174 |
N/A |
INTRINSIC |
|
low complexity region
|
1212 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1252 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1492 |
N/A |
INTRINSIC |
|
low complexity region
|
1519 |
1535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119820
AA Change: R498L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: R498L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
338 |
5.1e-148 |
PFAM |
|
S_TKc
|
376 |
644 |
2.79e-86 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
A |
7: 43,147,288 (GRCm39) |
I315F |
possibly damaging |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,632 (GRCm39) |
D368E |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,902,337 (GRCm39) |
T485I |
probably benign |
Het |
| Adamts2 |
A |
T |
11: 50,670,541 (GRCm39) |
I552F |
probably damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,112 (GRCm39) |
N9K |
probably benign |
Het |
| Arhgef18 |
A |
T |
8: 3,403,636 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
C |
18: 80,890,398 (GRCm39) |
T314A |
|
Het |
| Birc6 |
T |
A |
17: 74,950,389 (GRCm39) |
I3214N |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,557,714 (GRCm39) |
I762V |
probably benign |
Het |
| Cblb |
T |
A |
16: 51,986,365 (GRCm39) |
M536K |
probably benign |
Het |
| Ccdc85c |
C |
A |
12: 108,240,759 (GRCm39) |
A212S |
unknown |
Het |
| Cdh23 |
T |
A |
10: 60,150,162 (GRCm39) |
D2561V |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,173,472 (GRCm39) |
Y1672F |
probably damaging |
Het |
| Cep83 |
T |
C |
10: 94,564,579 (GRCm39) |
S173P |
possibly damaging |
Het |
| Ctc1 |
C |
T |
11: 68,918,584 (GRCm39) |
P530S |
probably damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,167,484 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,292,671 (GRCm39) |
I3019F |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,230,258 (GRCm39) |
D349G |
probably damaging |
Het |
| Ehd2 |
C |
G |
7: 15,697,917 (GRCm39) |
G107R |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,388,804 (GRCm39) |
W816R |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,404,840 (GRCm39) |
S69C |
probably null |
Het |
| Fbxo43 |
A |
G |
15: 36,151,917 (GRCm39) |
F600S |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,455,921 (GRCm39) |
D2117V |
probably damaging |
Het |
| Gas2l3 |
T |
A |
10: 89,262,342 (GRCm39) |
T127S |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,900,228 (GRCm39) |
L1205R |
probably benign |
Het |
| Gm17093 |
A |
T |
14: 44,758,139 (GRCm39) |
I107F |
|
Het |
| Gm7298 |
T |
A |
6: 121,761,414 (GRCm39) |
C1323* |
probably null |
Het |
| H2-D1 |
A |
G |
17: 35,485,741 (GRCm39) |
T89A |
|
Het |
| Hira |
T |
G |
16: 18,715,259 (GRCm39) |
D52E |
probably benign |
Het |
| Ighv6-6 |
G |
C |
12: 114,398,525 (GRCm39) |
Y80* |
probably null |
Het |
| Kat6b |
C |
T |
14: 21,719,953 (GRCm39) |
T1435I |
probably damaging |
Het |
| Kcna1 |
C |
A |
6: 126,620,443 (GRCm39) |
|
probably benign |
Het |
| Kif24 |
C |
A |
4: 41,392,957 (GRCm39) |
R1284L |
possibly damaging |
Het |
| Kremen2 |
A |
C |
17: 23,962,314 (GRCm39) |
C173G |
probably damaging |
Het |
| Krtap24-1 |
G |
C |
16: 88,408,707 (GRCm39) |
Q140E |
probably benign |
Het |
| Lrrc66 |
C |
A |
5: 73,786,952 (GRCm39) |
G133* |
probably null |
Het |
| Myom3 |
T |
C |
4: 135,534,504 (GRCm39) |
I1231T |
possibly damaging |
Het |
| Nid2 |
G |
A |
14: 19,860,131 (GRCm39) |
V1350I |
possibly damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,789 (GRCm39) |
V196D |
possibly damaging |
Het |
| Or8j3c |
A |
G |
2: 86,253,484 (GRCm39) |
C179R |
probably damaging |
Het |
| Or9r3 |
T |
C |
10: 129,948,350 (GRCm39) |
Q103R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,469 (GRCm39) |
D577G |
possibly damaging |
Het |
| Pde4d |
T |
A |
13: 109,578,855 (GRCm39) |
N36K |
probably benign |
Het |
| Plekhg1 |
A |
T |
10: 3,907,452 (GRCm39) |
S845C |
|
Het |
| Plekhg1 |
G |
A |
10: 3,907,453 (GRCm39) |
S845N |
|
Het |
| Plod1 |
C |
T |
4: 148,004,658 (GRCm39) |
D481N |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,493,981 (GRCm39) |
M212L |
probably damaging |
Het |
| Ppip5k1 |
C |
A |
2: 121,173,282 (GRCm39) |
E464* |
probably null |
Het |
| Raph1 |
T |
A |
1: 60,529,270 (GRCm39) |
M664L |
unknown |
Het |
| Rbm11 |
A |
C |
16: 75,395,673 (GRCm39) |
M115L |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,034,869 (GRCm39) |
H45R |
possibly damaging |
Het |
| Rnf43 |
A |
G |
11: 87,618,232 (GRCm39) |
E47G |
probably benign |
Het |
| Rsph1 |
A |
G |
17: 31,496,260 (GRCm39) |
|
probably benign |
Het |
| Safb |
A |
G |
17: 56,892,286 (GRCm39) |
E42G |
unknown |
Het |
| Scn1a |
A |
T |
2: 66,155,182 (GRCm39) |
D592E |
probably damaging |
Het |
| Sdf4 |
T |
G |
4: 156,093,379 (GRCm39) |
V237G |
possibly damaging |
Het |
| Slc44a2 |
C |
A |
9: 21,258,068 (GRCm39) |
H439Q |
possibly damaging |
Het |
| Smg7 |
A |
T |
1: 152,720,123 (GRCm39) |
N761K |
possibly damaging |
Het |
| Snrpb2 |
A |
G |
2: 142,910,284 (GRCm39) |
E114G |
probably benign |
Het |
| Spmip11 |
A |
G |
15: 98,486,548 (GRCm39) |
H106R |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,090,051 (GRCm39) |
D346G |
possibly damaging |
Het |
| Svopl |
T |
A |
6: 37,993,979 (GRCm39) |
I351F |
probably damaging |
Het |
| Tgfb2 |
A |
G |
1: 186,422,942 (GRCm39) |
S136P |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,317,400 (GRCm39) |
L1636* |
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,083,488 (GRCm39) |
T482A |
probably benign |
Het |
| Tnk2 |
C |
A |
16: 32,499,080 (GRCm39) |
P798T |
probably damaging |
Het |
| Trim5 |
T |
C |
7: 103,927,630 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,129,213 (GRCm39) |
M310V |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,904,819 (GRCm39) |
D795V |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,949,148 (GRCm39) |
V914E |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,547,558 (GRCm39) |
C1627* |
probably null |
Het |
| Vmn1r28 |
C |
A |
6: 58,243,052 (GRCm39) |
F298L |
noncoding transcript |
Het |
| Vps29 |
T |
C |
5: 122,500,877 (GRCm39) |
S69P |
possibly damaging |
Het |
| Zfp703 |
T |
A |
8: 27,469,782 (GRCm39) |
L482H |
probably damaging |
Het |
|
| Other mutations in Mast1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Mast1
|
APN |
8 |
85,639,444 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01862:Mast1
|
APN |
8 |
85,639,875 (GRCm39) |
splice site |
probably null |
|
|
IGL01918:Mast1
|
APN |
8 |
85,647,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Mast1
|
APN |
8 |
85,648,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02221:Mast1
|
APN |
8 |
85,645,384 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02370:Mast1
|
APN |
8 |
85,638,883 (GRCm39) |
missense |
probably benign |
|
|
IGL02470:Mast1
|
APN |
8 |
85,647,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Mast1
|
APN |
8 |
85,644,400 (GRCm39) |
missense |
probably benign |
|
|
IGL02716:Mast1
|
APN |
8 |
85,662,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02987:Mast1
|
APN |
8 |
85,652,348 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03287:Mast1
|
APN |
8 |
85,639,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0255:Mast1
|
UTSW |
8 |
85,638,650 (GRCm39) |
missense |
probably benign |
|
|
R0388:Mast1
|
UTSW |
8 |
85,642,166 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0480:Mast1
|
UTSW |
8 |
85,639,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0727:Mast1
|
UTSW |
8 |
85,648,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Mast1
|
UTSW |
8 |
85,651,956 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1297:Mast1
|
UTSW |
8 |
85,639,345 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1328:Mast1
|
UTSW |
8 |
85,644,617 (GRCm39) |
intron |
probably benign |
|
|
R1454:Mast1
|
UTSW |
8 |
85,647,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1532:Mast1
|
UTSW |
8 |
85,655,238 (GRCm39) |
nonsense |
probably null |
|
|
R1752:Mast1
|
UTSW |
8 |
85,651,965 (GRCm39) |
missense |
probably benign |
|
|
R1777:Mast1
|
UTSW |
8 |
85,638,697 (GRCm39) |
missense |
probably benign |
|
|
R1905:Mast1
|
UTSW |
8 |
85,642,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Mast1
|
UTSW |
8 |
85,642,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Mast1
|
UTSW |
8 |
85,642,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Mast1
|
UTSW |
8 |
85,646,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2071:Mast1
|
UTSW |
8 |
85,647,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Mast1
|
UTSW |
8 |
85,648,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2318:Mast1
|
UTSW |
8 |
85,647,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Mast1
|
UTSW |
8 |
85,650,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Mast1
|
UTSW |
8 |
85,645,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3895:Mast1
|
UTSW |
8 |
85,662,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Mast1
|
UTSW |
8 |
85,645,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Mast1
|
UTSW |
8 |
85,647,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Mast1
|
UTSW |
8 |
85,647,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Mast1
|
UTSW |
8 |
85,655,635 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4770:Mast1
|
UTSW |
8 |
85,655,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4776:Mast1
|
UTSW |
8 |
85,663,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4835:Mast1
|
UTSW |
8 |
85,650,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Mast1
|
UTSW |
8 |
85,647,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Mast1
|
UTSW |
8 |
85,645,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4960:Mast1
|
UTSW |
8 |
85,644,500 (GRCm39) |
missense |
probably benign |
|
|
R4978:Mast1
|
UTSW |
8 |
85,662,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5164:Mast1
|
UTSW |
8 |
85,640,147 (GRCm39) |
unclassified |
probably benign |
|
|
R5235:Mast1
|
UTSW |
8 |
85,640,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Mast1
|
UTSW |
8 |
85,639,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5463:Mast1
|
UTSW |
8 |
85,652,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Mast1
|
UTSW |
8 |
85,642,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Mast1
|
UTSW |
8 |
85,655,597 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Mast1
|
UTSW |
8 |
85,651,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6213:Mast1
|
UTSW |
8 |
85,642,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Mast1
|
UTSW |
8 |
85,644,383 (GRCm39) |
missense |
probably benign |
|
|
R7000:Mast1
|
UTSW |
8 |
85,655,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Mast1
|
UTSW |
8 |
85,638,574 (GRCm39) |
nonsense |
probably null |
|
|
R7164:Mast1
|
UTSW |
8 |
85,661,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7695:Mast1
|
UTSW |
8 |
85,647,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7845:Mast1
|
UTSW |
8 |
85,651,954 (GRCm39) |
nonsense |
probably null |
|
|
R7882:Mast1
|
UTSW |
8 |
85,639,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8197:Mast1
|
UTSW |
8 |
85,639,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8773:Mast1
|
UTSW |
8 |
85,642,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Mast1
|
UTSW |
8 |
85,638,779 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9526:Mast1
|
UTSW |
8 |
85,647,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Mast1
|
UTSW |
8 |
85,657,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Mast1
|
UTSW |
8 |
85,650,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Mast1
|
UTSW |
8 |
85,647,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mast1
|
UTSW |
8 |
85,645,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mast1
|
UTSW |
8 |
85,639,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Mast1
|
UTSW |
8 |
85,647,075 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAAAATCCGTGAGCTTG -3'
(R):5'- CTTCTGCAAAATGGGTACAAGG -3'
Sequencing Primer
(F):5'- CCAAAATCCGTGAGCTTGATGTG -3'
(R):5'- ACAGTGAATGTTGTGTGCCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation