Incidental Mutation 'R9477:Mast1'
| ID |
715868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85638779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1517
(K1517E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(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
AA Change: K1517E
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: K1517E
| 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 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 |
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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
T |
1: 89,765,485 (GRCm39) |
M618L |
probably benign |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,282 (GRCm39) |
I89N |
probably damaging |
Het |
| App |
C |
A |
16: 84,853,392 (GRCm39) |
A229S |
unknown |
Het |
| B020011L13Rik |
G |
T |
1: 117,728,903 (GRCm39) |
E137* |
probably null |
Het |
| BC034090 |
C |
T |
1: 155,102,087 (GRCm39) |
G59E |
probably damaging |
Het |
| C1ra |
A |
G |
6: 124,499,455 (GRCm39) |
D547G |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,755,212 (GRCm39) |
D774E |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,201 (GRCm39) |
N1104D |
probably damaging |
Het |
| Cecr2 |
G |
A |
6: 120,720,743 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
T |
8: 105,560,556 (GRCm39) |
N124Y |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,985,032 (GRCm39) |
T959A |
probably benign |
Het |
| Chaf1a |
A |
T |
17: 56,369,244 (GRCm39) |
K492* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,620 (GRCm39) |
V334A |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,706,621 (GRCm39) |
I2771T |
unknown |
Het |
| Creb3 |
T |
C |
4: 43,566,298 (GRCm39) |
L244P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,816,956 (GRCm39) |
V171A |
probably benign |
Het |
| Crmp1 |
T |
C |
5: 37,446,182 (GRCm39) |
Y613H |
probably damaging |
Het |
| Csrnp3 |
G |
A |
2: 65,852,819 (GRCm39) |
V416I |
probably benign |
Het |
| Dhrs1 |
A |
G |
14: 55,976,868 (GRCm39) |
V272A |
probably benign |
Het |
| Dip2b |
T |
C |
15: 99,936,784 (GRCm39) |
S32P |
probably damaging |
Het |
| Dpp10 |
G |
T |
1: 123,304,370 (GRCm39) |
T510K |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,205,292 (GRCm39) |
Y820C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,836,698 (GRCm39) |
H3562L |
unknown |
Het |
| Fam3c |
A |
T |
6: 22,308,479 (GRCm39) |
M238K |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,852,265 (GRCm39) |
F1263L |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,159,803 (GRCm39) |
C484S |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,295,720 (GRCm39) |
L97P |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,431,682 (GRCm39) |
I310V |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,314 (GRCm39) |
N23I |
probably benign |
Het |
| Gpr21 |
T |
A |
2: 37,408,386 (GRCm39) |
F311I |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,405 (GRCm39) |
E741G |
probably benign |
Het |
| Gsto2 |
G |
A |
19: 47,864,911 (GRCm39) |
R148H |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,368,813 (GRCm39) |
V27A |
probably benign |
Het |
| Hbp1 |
A |
G |
12: 31,980,766 (GRCm39) |
C446R |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,286,031 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
G |
A |
1: 173,854,155 (GRCm39) |
T166I |
probably benign |
Het |
| Il23a |
T |
A |
10: 128,133,922 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
A |
T |
2: 136,936,409 (GRCm39) |
C362S |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 66,993,734 (GRCm39) |
R72* |
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,716,361 (GRCm39) |
I176T |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Mbnl1 |
A |
G |
3: 60,520,769 (GRCm39) |
D119G |
probably damaging |
Het |
| Mfsd8 |
A |
G |
3: 40,785,057 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
G |
5: 148,014,740 (GRCm39) |
V511G |
probably benign |
Het |
| Myot |
A |
C |
18: 44,470,333 (GRCm39) |
Q103H |
probably benign |
Het |
| Nrip2 |
G |
A |
6: 128,377,145 (GRCm39) |
D24N |
probably benign |
Het |
| Ntm |
T |
A |
9: 29,322,922 (GRCm39) |
S33C |
probably benign |
Het |
| Nus1 |
C |
T |
10: 52,294,001 (GRCm39) |
T55M |
possibly damaging |
Het |
| Or4c112 |
G |
A |
2: 88,853,615 (GRCm39) |
T244I |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,922,973 (GRCm39) |
|
probably null |
Het |
| Pogk |
T |
C |
1: 166,227,404 (GRCm39) |
N249S |
probably damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,320,503 (GRCm39) |
T66I |
possibly damaging |
Het |
| Ppp1r42 |
T |
G |
1: 10,055,854 (GRCm39) |
K211N |
probably damaging |
Het |
| Ppp2r3d |
C |
A |
9: 124,476,857 (GRCm38) |
D2Y |
|
Het |
| Prdm5 |
A |
T |
6: 65,771,342 (GRCm39) |
N51I |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 52,001,342 (GRCm39) |
A1599T |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,921,981 (GRCm39) |
A520T |
|
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spice1 |
T |
A |
16: 44,197,183 (GRCm39) |
N489K |
possibly damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,132,624 (GRCm39) |
M116T |
possibly damaging |
Het |
| Supt5 |
T |
A |
7: 28,025,500 (GRCm39) |
N249Y |
probably damaging |
Het |
| Tex2 |
A |
G |
11: 106,410,706 (GRCm39) |
|
probably null |
Het |
| Trhde |
T |
A |
10: 114,338,980 (GRCm39) |
E610V |
probably benign |
Het |
| Trmt12 |
T |
C |
15: 58,745,471 (GRCm39) |
S290P |
possibly damaging |
Het |
| Trpm2 |
C |
T |
10: 77,747,224 (GRCm39) |
V1425M |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,778,108 (GRCm39) |
S832P |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,128 (GRCm39) |
D1472V |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,528,753 (GRCm39) |
E1330G |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,261 (GRCm39) |
V53G |
possibly damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,168,910 (GRCm39) |
I740N |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,218,244 (GRCm39) |
C18Y |
possibly damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,188 (GRCm39) |
I177M |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,428 (GRCm39) |
I895T |
probably benign |
Het |
| Zfp58 |
C |
A |
13: 67,640,158 (GRCm39) |
C111F |
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 |
|
|
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 |
|
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'- TCCGCTATGGACCTAGAGATGC -3'
(R):5'- CCATTGTTGTAGAGCCTGCTC -3'
Sequencing Primer
(F):5'- CTATGGACCTAGAGATGCAGGGC -3'
(R):5'- GCACAGACTCCAAGGGATTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation