Incidental Mutation 'R7011:Mast1'
| ID |
545021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
045112-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 85638574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 653
(Y653*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003910]
[ENSMUST00000109741]
[ENSMUST00000109744]
[ENSMUST00000119820]
[ENSMUST00000134569]
[ENSMUST00000145292]
|
| AlphaFold |
Q9R1L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003910
|
| SMART Domains |
Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
21 |
349 |
5.8e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109741
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
| 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: ENSMUST00000109744
|
| SMART Domains |
Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNase_II
|
9 |
328 |
4.8e-114 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119820
AA Change: Y653*
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: Y653*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
338 |
5.1e-148 |
PFAM |
|
S_TKc
|
376 |
644 |
2.79e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134569
|
| SMART Domains |
Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
20 |
119 |
6.6e-32 |
PFAM |
|
Pfam:DNase_II
|
115 |
182 |
4.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145292
|
| SMART Domains |
Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DNase_II
|
20 |
97 |
2.4e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,033,845 (GRCm39) |
P886S |
probably benign |
Het |
| Anapc1 |
C |
T |
2: 128,490,601 (GRCm39) |
|
probably null |
Het |
| Ankrd34c |
C |
A |
9: 89,611,001 (GRCm39) |
G447* |
probably null |
Het |
| Apbb1ip |
A |
T |
2: 22,725,943 (GRCm39) |
E238D |
probably damaging |
Het |
| Arfgap1 |
T |
C |
2: 180,613,935 (GRCm39) |
L110P |
probably damaging |
Het |
| Arhgap21 |
G |
A |
2: 20,853,689 (GRCm39) |
T1901I |
possibly damaging |
Het |
| Brpf1 |
C |
A |
6: 113,295,427 (GRCm39) |
Q679K |
probably benign |
Het |
| Btnl2 |
A |
G |
17: 34,582,487 (GRCm39) |
E351G |
probably damaging |
Het |
| Cd209f |
T |
A |
8: 4,154,859 (GRCm39) |
T80S |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,819,451 (GRCm39) |
E349G |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,462,564 (GRCm39) |
D436V |
probably benign |
Het |
| Crhr2 |
A |
T |
6: 55,076,195 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,388,887 (GRCm39) |
K226E |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,809,672 (GRCm39) |
D768E |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,632,346 (GRCm39) |
L435P |
probably damaging |
Het |
| Dnah11 |
AGGCC |
AGGCCGGCC |
12: 117,885,753 (GRCm39) |
|
probably null |
Het |
| Eif4ebp1 |
G |
A |
8: 27,763,372 (GRCm39) |
R55Q |
probably damaging |
Het |
| Fbh1 |
T |
A |
2: 11,767,774 (GRCm39) |
D358V |
probably damaging |
Het |
| Fra10ac1 |
T |
A |
19: 38,177,242 (GRCm39) |
E304D |
probably benign |
Het |
| Gabrb2 |
T |
C |
11: 42,517,488 (GRCm39) |
S399P |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gprin2 |
G |
T |
14: 33,917,393 (GRCm39) |
H126N |
probably null |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,422 (GRCm39) |
S189P |
probably damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,317 (GRCm39) |
M182T |
probably benign |
Het |
| Lipc |
A |
G |
9: 70,726,236 (GRCm39) |
F73L |
probably benign |
Het |
| Liph |
A |
G |
16: 21,802,847 (GRCm39) |
I74T |
probably damaging |
Het |
| Lrif1 |
T |
G |
3: 106,639,601 (GRCm39) |
Y229D |
probably damaging |
Het |
| Magel2 |
C |
T |
7: 62,028,281 (GRCm39) |
T395I |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 104,013,070 (GRCm39) |
N139S |
probably damaging |
Het |
| Man2c1 |
T |
A |
9: 57,045,117 (GRCm39) |
V336E |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,019,803 (GRCm39) |
Y135N |
probably damaging |
Het |
| Mapkapk3 |
C |
T |
9: 107,166,595 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,548,747 (GRCm39) |
I5849F |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,548,839 (GRCm39) |
H5818L |
probably benign |
Het |
| Ndufa10 |
A |
G |
1: 92,398,581 (GRCm39) |
S68P |
probably damaging |
Het |
| Nedd1 |
C |
A |
10: 92,526,635 (GRCm39) |
L503F |
probably benign |
Het |
| Nr1i3 |
A |
G |
1: 171,041,927 (GRCm39) |
M4V |
probably benign |
Het |
| Or12e9 |
G |
A |
2: 87,202,604 (GRCm39) |
A243T |
possibly damaging |
Het |
| Or2av9 |
T |
A |
11: 58,380,970 (GRCm39) |
I204F |
possibly damaging |
Het |
| Or4f14b |
A |
T |
2: 111,775,031 (GRCm39) |
F257I |
probably benign |
Het |
| Or9i2 |
T |
C |
19: 13,816,403 (GRCm39) |
I45V |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,709,231 (GRCm39) |
S695T |
probably benign |
Het |
| Pcdha1 |
T |
C |
18: 37,063,588 (GRCm39) |
I84T |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,944,760 (GRCm39) |
D90V |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,649,825 (GRCm39) |
C47R |
probably damaging |
Het |
| Psg27 |
G |
C |
7: 18,290,798 (GRCm39) |
N468K |
probably benign |
Het |
| Ptchd4 |
G |
A |
17: 42,814,759 (GRCm39) |
E887K |
probably benign |
Het |
| Rabgap1 |
C |
T |
2: 37,430,492 (GRCm39) |
L678F |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,968,904 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,056,272 (GRCm39) |
C73S |
probably damaging |
Het |
| Rtkn2 |
G |
A |
10: 67,815,495 (GRCm39) |
|
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,639,352 (GRCm39) |
S242P |
probably damaging |
Het |
| Smtnl1 |
T |
A |
2: 84,648,753 (GRCm39) |
D167V |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,724,610 (GRCm39) |
L511P |
probably benign |
Het |
| Stbd1 |
A |
T |
5: 92,752,977 (GRCm39) |
K156* |
probably null |
Het |
| Tenm4 |
G |
T |
7: 96,545,342 (GRCm39) |
G2453* |
probably null |
Het |
| Tent4a |
C |
T |
13: 69,648,199 (GRCm39) |
G489S |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,309,523 (GRCm39) |
K1760E |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,862,923 (GRCm39) |
L1427Q |
probably damaging |
Het |
| Uaca |
A |
G |
9: 60,777,650 (GRCm39) |
E679G |
probably damaging |
Het |
| Ucn3 |
T |
G |
13: 3,991,421 (GRCm39) |
H77P |
possibly damaging |
Het |
| Wnk2 |
T |
A |
13: 49,224,567 (GRCm39) |
D998V |
probably damaging |
Het |
| Xrcc3 |
A |
G |
12: 111,770,969 (GRCm39) |
V320A |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,345,925 (GRCm39) |
T1435A |
possibly damaging |
Het |
| Zfp36l2 |
G |
T |
17: 84,493,861 (GRCm39) |
H259N |
possibly damaging |
Het |
| Zfp619 |
A |
T |
7: 39,187,186 (GRCm39) |
H1072L |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,107,127 (GRCm39) |
E502D |
possibly damaging |
Het |
| Zfyve16 |
G |
A |
13: 92,658,495 (GRCm39) |
P472L |
probably benign |
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 |
|
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'- TTAAGATGGAGCCCAAGACAC -3'
(R):5'- AAAGAATGTACCCCGCAGTGC -3'
Sequencing Primer
(F):5'- GGGACACCTTTTCCTTACAAAAGCTG -3'
(R):5'- GCAGTGCAGCTCCTTCAGTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation