Incidental Mutation 'R1532:Mast1'
| ID |
166659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
039571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1532 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 85655238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 249
(Q249*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
| AlphaFold |
Q9R1L5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109741
AA Change: Q249*
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: Q249*
| 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 null
Transcript: ENSMUST00000119820
AA Change: Q249*
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: Q249*
| 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: ENSMUST00000153000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175085
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
A |
4: 86,166,302 (GRCm39) |
H394N |
probably benign |
Het |
| Ahrr |
A |
G |
13: 74,361,826 (GRCm39) |
S558P |
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,499,919 (GRCm39) |
N1184S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,476,696 (GRCm39) |
C14* |
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,736,718 (GRCm39) |
D187G |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,337 (GRCm39) |
T363A |
probably benign |
Het |
| Atxn1 |
A |
T |
13: 45,720,386 (GRCm39) |
L503Q |
possibly damaging |
Het |
| Babam1 |
A |
G |
8: 71,852,277 (GRCm39) |
D155G |
possibly damaging |
Het |
| Bbs9 |
A |
G |
9: 22,798,945 (GRCm39) |
T858A |
probably benign |
Het |
| Cacna1g |
C |
A |
11: 94,334,157 (GRCm39) |
G828V |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,380,405 (GRCm39) |
T392A |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,289,689 (GRCm39) |
V469A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,150,110 (GRCm39) |
N2576K |
probably damaging |
Het |
| Coro2b |
A |
G |
9: 62,396,705 (GRCm39) |
Y18H |
probably damaging |
Het |
| Crispld2 |
G |
T |
8: 120,750,311 (GRCm39) |
K238N |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,014 (GRCm39) |
I880T |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,292,472 (GRCm39) |
C3237F |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,771,171 (GRCm39) |
M519V |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,350,753 (GRCm39) |
C106S |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
C |
8: 120,304,162 (GRCm39) |
F67L |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,175,204 (GRCm39) |
L1334R |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,152,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,742,256 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
A |
G |
2: 150,600,670 (GRCm39) |
Q126R |
probably benign |
Het |
| Entpd7 |
C |
G |
19: 43,679,516 (GRCm39) |
P23R |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,366,541 (GRCm39) |
I970V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,861,855 (GRCm39) |
H2163L |
probably damaging |
Het |
| Gse1 |
C |
G |
8: 121,294,949 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,999,301 (GRCm39) |
V300A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,214 (GRCm39) |
D259V |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,645,673 (GRCm39) |
S453P |
probably damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,652 (GRCm39) |
T163A |
probably benign |
Het |
| Igbp1b |
T |
A |
6: 138,635,442 (GRCm39) |
M1L |
possibly damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lpxn |
T |
C |
19: 12,781,456 (GRCm39) |
|
probably null |
Het |
| Mink1 |
A |
G |
11: 70,492,833 (GRCm39) |
D153G |
probably null |
Het |
| Mllt10 |
G |
A |
2: 18,097,646 (GRCm39) |
|
probably null |
Het |
| Mpl |
C |
T |
4: 118,305,765 (GRCm39) |
G420E |
possibly damaging |
Het |
| Ms4a1 |
T |
A |
19: 11,230,557 (GRCm39) |
T215S |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,994,656 (GRCm39) |
Q1179* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,635,733 (GRCm39) |
H278R |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,805,983 (GRCm39) |
I136V |
probably benign |
Het |
| Or52e18 |
T |
C |
7: 104,609,472 (GRCm39) |
I156V |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,639 (GRCm39) |
Y288C |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,934,771 (GRCm39) |
V353M |
probably damaging |
Het |
| Osbpl5 |
A |
T |
7: 143,248,817 (GRCm39) |
M589K |
probably benign |
Het |
| Phf20 |
G |
T |
2: 156,144,969 (GRCm39) |
G859V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,187,625 (GRCm39) |
T3561I |
probably benign |
Het |
| Prss46 |
G |
A |
9: 110,679,236 (GRCm39) |
V146I |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,461,626 (GRCm39) |
V1139M |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,500,963 (GRCm39) |
L396P |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,958 (GRCm39) |
T1126A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,833,045 (GRCm39) |
A659T |
probably benign |
Het |
| Rdm1 |
T |
C |
11: 101,524,643 (GRCm39) |
L192P |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,239,742 (GRCm39) |
W842G |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,881,420 (GRCm39) |
K509R |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,713,396 (GRCm39) |
I377N |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,040,483 (GRCm39) |
G269D |
probably damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,971,920 (GRCm39) |
T115A |
probably benign |
Het |
| Slc5a12 |
T |
G |
2: 110,440,483 (GRCm39) |
N157K |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,234,924 (GRCm39) |
V1634A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,074,919 (GRCm39) |
S2382P |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,084,194 (GRCm39) |
S1100R |
probably benign |
Het |
| Tcf23 |
A |
G |
5: 31,130,901 (GRCm39) |
T180A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,804 (GRCm39) |
V2846A |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,293,751 (GRCm39) |
I915K |
probably damaging |
Het |
| Uba1y |
C |
T |
Y: 828,862 (GRCm39) |
H557Y |
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,827,700 (GRCm39) |
D730E |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,605,011 (GRCm39) |
L734Q |
probably damaging |
Het |
| Vmn1r167 |
G |
T |
7: 23,204,204 (GRCm39) |
H271N |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,879,454 (GRCm39) |
V282A |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,344,283 (GRCm39) |
K2175E |
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 |
|
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 |
|
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'- CTGAAGGGCCTGTATGGAGACAAAC -3'
(R):5'- GCGGTTCCCAAAGGTGAAACAAC -3'
Sequencing Primer
(F):5'- TGTATGGAGACAAACTTCCAACTC -3'
(R):5'- TGAAACAAcccgccccc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation