Incidental Mutation 'R2056:Mast1'
| ID |
228195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
040061-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85646995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 677
(F677L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
| AlphaFold |
Q9R1L5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109741
AA Change: F677L
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: F677L
| 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 benign
Transcript: ENSMUST00000119820
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
338 |
5.1e-148 |
PFAM |
|
S_TKc
|
376 |
644 |
2.79e-86 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,667,525 (GRCm39) |
V129A |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,992,676 (GRCm39) |
D264G |
probably damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,748,626 (GRCm39) |
D407V |
probably benign |
Het |
| Alas1 |
T |
C |
9: 106,118,489 (GRCm39) |
E211G |
probably damaging |
Het |
| Alkbh1 |
C |
T |
12: 87,490,520 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,809,553 (GRCm39) |
I662V |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,201,789 (GRCm39) |
V334A |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,449,481 (GRCm39) |
R2092G |
probably damaging |
Het |
| Arhgap18 |
C |
T |
10: 26,730,904 (GRCm39) |
T122I |
probably benign |
Het |
| Atp2b4 |
G |
T |
1: 133,654,275 (GRCm39) |
Q777K |
probably benign |
Het |
| Brap |
G |
A |
5: 121,801,529 (GRCm39) |
G95S |
probably damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,377,077 (GRCm39) |
A587T |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,932,477 (GRCm39) |
I1308V |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,399,936 (GRCm39) |
|
probably null |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cmtm4 |
A |
C |
8: 105,081,920 (GRCm39) |
F156V |
probably damaging |
Het |
| Cntln |
G |
A |
4: 84,967,911 (GRCm39) |
R710K |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,819,387 (GRCm39) |
T15S |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,298 (GRCm39) |
T135A |
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,015 (GRCm39) |
I363F |
probably damaging |
Het |
| Dhx38 |
G |
T |
8: 110,289,352 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,336,251 (GRCm39) |
I85N |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,707,900 (GRCm39) |
A1381T |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,661,430 (GRCm39) |
D1776G |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,966,824 (GRCm39) |
S1209P |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,945,319 (GRCm39) |
M1404K |
possibly damaging |
Het |
| Fbxo45 |
G |
T |
16: 32,057,346 (GRCm39) |
Q183K |
possibly damaging |
Het |
| Frmd4b |
C |
T |
6: 97,389,448 (GRCm39) |
|
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,361 (GRCm39) |
S415G |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,229,025 (GRCm39) |
|
probably null |
Het |
| Gsk3b |
T |
A |
16: 38,008,271 (GRCm39) |
D192E |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,787,814 (GRCm39) |
I295V |
probably benign |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,592 (GRCm39) |
L132P |
possibly damaging |
Het |
| Il12b |
A |
C |
11: 44,298,727 (GRCm39) |
T61P |
probably damaging |
Het |
| Il7 |
A |
T |
3: 7,638,975 (GRCm39) |
N130K |
probably damaging |
Het |
| Itih3 |
A |
C |
14: 30,631,481 (GRCm39) |
|
probably null |
Het |
| Kdm5b |
T |
A |
1: 134,540,952 (GRCm39) |
D681E |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,390,660 (GRCm39) |
N408D |
probably benign |
Het |
| Kng2 |
TATGACCATGACCATGACCATGACCATGACCATGACCAT |
TATGACCATGACCATGACCATGACCATGACCAT |
16: 22,806,703 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,961,691 (GRCm39) |
E272G |
possibly damaging |
Het |
| Krt9 |
G |
T |
11: 100,082,321 (GRCm39) |
N201K |
probably damaging |
Het |
| Lmbr1 |
G |
A |
5: 29,438,092 (GRCm39) |
P304L |
probably benign |
Het |
| Lrrfip1 |
A |
G |
1: 91,043,539 (GRCm39) |
N648S |
probably benign |
Het |
| Mab21l3 |
C |
A |
3: 101,722,469 (GRCm39) |
V386L |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,454,180 (GRCm39) |
Q1149R |
probably benign |
Het |
| Mcoln3 |
A |
G |
3: 145,833,979 (GRCm39) |
D173G |
probably benign |
Het |
| Mmrn1 |
C |
T |
6: 60,921,789 (GRCm39) |
T82I |
probably benign |
Het |
| Mtcl2 |
C |
T |
2: 156,864,747 (GRCm39) |
G1154S |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,345,772 (GRCm39) |
T203A |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,812,334 (GRCm39) |
I2035T |
possibly damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,534 (GRCm39) |
N146S |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,950,172 (GRCm39) |
T21A |
possibly damaging |
Het |
| Nos1ap |
G |
A |
1: 170,155,215 (GRCm39) |
L267F |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,591 (GRCm39) |
K240N |
probably damaging |
Het |
| Or3a4 |
A |
T |
11: 73,944,819 (GRCm39) |
Y255* |
probably null |
Het |
| Or4p8 |
A |
G |
2: 88,727,105 (GRCm39) |
F279L |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,310,299 (GRCm39) |
N136S |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,545,469 (GRCm39) |
T1862A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,139,744 (GRCm39) |
D596G |
possibly damaging |
Het |
| Psmc3 |
T |
C |
2: 90,888,433 (GRCm39) |
F315L |
probably benign |
Het |
| Rerg |
G |
A |
6: 137,034,878 (GRCm39) |
T42I |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
| Sap30 |
T |
C |
8: 57,940,282 (GRCm39) |
|
probably null |
Het |
| Scn2b |
T |
C |
9: 45,036,815 (GRCm39) |
Y108H |
probably damaging |
Het |
| Senp2 |
C |
T |
16: 21,832,949 (GRCm39) |
T79I |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,451,543 (GRCm39) |
V232A |
probably damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,393,588 (GRCm39) |
L197Q |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,700,953 (GRCm39) |
W320R |
probably damaging |
Het |
| Spmip4 |
T |
C |
6: 50,550,725 (GRCm39) |
R575G |
possibly damaging |
Het |
| Tgm4 |
T |
C |
9: 122,890,835 (GRCm39) |
I54T |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,927,387 (GRCm39) |
D34V |
probably benign |
Het |
| Tlcd4 |
T |
G |
3: 121,001,070 (GRCm39) |
I188L |
probably benign |
Het |
| Tmem176b |
G |
A |
6: 48,813,267 (GRCm39) |
T64I |
probably damaging |
Het |
| Tmod2 |
T |
C |
9: 75,484,524 (GRCm39) |
E248G |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,784,479 (GRCm39) |
D1849E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,615,882 (GRCm39) |
D8360G |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,679,711 (GRCm39) |
E2094G |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,160 (GRCm39) |
D321E |
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 |
|
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 |
|
|
R8167:Mast1
|
UTSW |
8 |
85,647,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTTAGTCTCTGGGATGACAGGC -3'
(R):5'- TTCTGCAAAGACAGCTGAGATG -3'
Sequencing Primer
(F):5'- TCTGGGATGACAGGCCTGTAC -3'
(R):5'- CCTGGGGCAGTAATTGGGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation