Incidental Mutation 'IGL02212:Mast1'
| ID |
285522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02212
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85648026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 485
(L485Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
| AlphaFold |
Q9R1L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109741
AA Change: L485Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: L485Q
| 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: L485Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: L485Q
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175085
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,079,233 (GRCm39) |
D1079V |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,127,195 (GRCm39) |
H467R |
probably benign |
Het |
| Ambra1 |
T |
G |
2: 91,747,706 (GRCm39) |
D1056E |
probably damaging |
Het |
| Aoah |
A |
C |
13: 21,187,071 (GRCm39) |
N456T |
probably benign |
Het |
| Batf2 |
T |
A |
19: 6,221,991 (GRCm39) |
F267Y |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,648,558 (GRCm39) |
V397I |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,723,808 (GRCm39) |
D824E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,029,841 (GRCm39) |
V601E |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,647,271 (GRCm39) |
F773L |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,522,345 (GRCm38) |
D606E |
possibly damaging |
Het |
| Cenps |
T |
G |
4: 149,213,303 (GRCm39) |
D54A |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,563,502 (GRCm39) |
N1504I |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,382,748 (GRCm39) |
V1340A |
possibly damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,052,091 (GRCm39) |
S667T |
probably benign |
Het |
| Defa38 |
C |
T |
8: 21,585,276 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,189,413 (GRCm39) |
Y272C |
probably damaging |
Het |
| Dlx3 |
A |
G |
11: 95,011,467 (GRCm39) |
D107G |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,675 (GRCm39) |
N56I |
probably benign |
Het |
| Elavl4 |
T |
A |
4: 110,063,609 (GRCm39) |
I331F |
probably damaging |
Het |
| Fam167a |
T |
G |
14: 63,700,078 (GRCm39) |
S213A |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,698,729 (GRCm39) |
I2489N |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,151,957 (GRCm39) |
K587E |
probably damaging |
Het |
| Fscn2 |
A |
G |
11: 120,252,881 (GRCm39) |
D116G |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,457,546 (GRCm39) |
V194A |
probably benign |
Het |
| Gpr180 |
T |
A |
14: 118,397,588 (GRCm39) |
F361I |
probably damaging |
Het |
| Gpx2 |
A |
T |
12: 76,839,682 (GRCm39) |
C105* |
probably null |
Het |
| Gsdmc2 |
A |
T |
15: 63,699,911 (GRCm39) |
|
probably benign |
Het |
| Hes2 |
T |
G |
4: 152,244,982 (GRCm39) |
S150R |
probably damaging |
Het |
| Ighv1-56 |
C |
T |
12: 115,206,417 (GRCm39) |
|
probably benign |
Het |
| Inhbb |
A |
T |
1: 119,345,713 (GRCm39) |
V192D |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,900,152 (GRCm39) |
M137L |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,265,382 (GRCm39) |
N470D |
probably benign |
Het |
| Jph1 |
T |
C |
1: 17,161,981 (GRCm39) |
E227G |
probably damaging |
Het |
| Kcnj6 |
A |
T |
16: 94,633,346 (GRCm39) |
I237N |
probably damaging |
Het |
| Kctd8 |
G |
T |
5: 69,498,031 (GRCm39) |
P205Q |
probably benign |
Het |
| Klhdc1 |
A |
T |
12: 69,297,540 (GRCm39) |
N37I |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,281,608 (GRCm39) |
H3921L |
probably benign |
Het |
| Lrp8os2 |
T |
C |
4: 107,664,245 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
A |
C |
7: 80,012,056 (GRCm39) |
D700E |
probably benign |
Het |
| Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
| Mptx2 |
T |
A |
1: 173,102,248 (GRCm39) |
D147V |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,351,124 (GRCm39) |
|
probably null |
Het |
| Mup21 |
T |
G |
4: 62,066,829 (GRCm39) |
E137A |
probably damaging |
Het |
| Mutyh |
T |
A |
4: 116,672,803 (GRCm39) |
V52D |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,752,742 (GRCm39) |
S340C |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,198,323 (GRCm39) |
Y474H |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,626 (GRCm39) |
E560G |
possibly damaging |
Het |
| Ntn4 |
A |
G |
10: 93,480,711 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nup93 |
G |
A |
8: 95,038,290 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
A |
G |
2: 36,578,194 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or2n1b |
C |
A |
17: 38,459,746 (GRCm39) |
T89K |
probably benign |
Het |
| Or2y14 |
A |
T |
11: 49,404,737 (GRCm39) |
I91F |
probably damaging |
Het |
| Or52b2 |
C |
T |
7: 104,986,350 (GRCm39) |
C191Y |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,489,465 (GRCm39) |
V40E |
possibly damaging |
Het |
| Peg3 |
C |
T |
7: 6,714,415 (GRCm39) |
R269H |
probably benign |
Het |
| Piwil1 |
T |
A |
5: 128,827,334 (GRCm39) |
F648I |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,295,326 (GRCm39) |
K827* |
probably null |
Het |
| Retsat |
T |
A |
6: 72,578,693 (GRCm39) |
L135* |
probably null |
Het |
| Rtp3 |
A |
G |
9: 110,816,389 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
A |
G |
11: 94,914,176 (GRCm39) |
Y305C |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,082,319 (GRCm39) |
Q445L |
possibly damaging |
Het |
| Shbg |
A |
G |
11: 69,508,035 (GRCm39) |
L110P |
probably damaging |
Het |
| Slc17a6 |
T |
A |
7: 51,317,218 (GRCm39) |
I413N |
possibly damaging |
Het |
| Slu7 |
A |
T |
11: 43,331,469 (GRCm39) |
Q201L |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,938,638 (GRCm39) |
T439A |
probably benign |
Het |
| Sstr5 |
A |
T |
17: 25,710,647 (GRCm39) |
L194Q |
possibly damaging |
Het |
| Tjp2 |
A |
T |
19: 24,116,150 (GRCm39) |
L13Q |
probably damaging |
Het |
| Tnk2 |
G |
A |
16: 32,498,960 (GRCm39) |
V758I |
probably damaging |
Het |
| Ttll8 |
C |
A |
15: 88,801,450 (GRCm39) |
V413L |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,587,109 (GRCm39) |
D67G |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation