Incidental Mutation 'R5297:Mast1'
ID |
405488 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast1
|
Ensembl Gene |
ENSMUSG00000053693 |
Gene Name |
microtubule associated serine/threonine kinase 1 |
Synonyms |
9430008B02Rik, SAST, SAST170 |
MMRRC Submission |
042880-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5297 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 85639947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
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 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: ENSMUST00000128400
|
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 |
noncoding transcript
Transcript: ENSMUST00000135219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153215
|
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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd6 |
G |
T |
1: 155,463,204 (GRCm39) |
A135S |
probably benign |
Het |
Agbl4 |
A |
G |
4: 111,423,895 (GRCm39) |
K307R |
possibly damaging |
Het |
Akna |
T |
C |
4: 63,300,083 (GRCm39) |
E653G |
possibly damaging |
Het |
Arhgap26 |
T |
C |
18: 39,254,941 (GRCm39) |
Y273H |
probably damaging |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atp1a1 |
C |
T |
3: 101,498,443 (GRCm39) |
V250M |
possibly damaging |
Het |
Cacna1c |
T |
G |
6: 118,719,322 (GRCm39) |
D215A |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,822,345 (GRCm38) |
N132Y |
probably damaging |
Het |
Casp6 |
T |
C |
3: 129,704,204 (GRCm39) |
F97L |
possibly damaging |
Het |
Ckap2l |
T |
C |
2: 129,127,290 (GRCm39) |
N296S |
possibly damaging |
Het |
Col6a4 |
T |
C |
9: 105,952,066 (GRCm39) |
K611E |
probably benign |
Het |
Copa |
A |
G |
1: 171,940,675 (GRCm39) |
H696R |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,011,629 (GRCm39) |
N283K |
probably benign |
Het |
Dcc |
C |
T |
18: 71,511,809 (GRCm39) |
V869I |
probably benign |
Het |
Efemp1 |
G |
T |
11: 28,817,868 (GRCm39) |
G116C |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,302,473 (GRCm39) |
E373G |
probably benign |
Het |
Fbxo9 |
T |
C |
9: 77,993,561 (GRCm39) |
T318A |
probably benign |
Het |
Gipr |
A |
G |
7: 18,891,469 (GRCm39) |
W403R |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,695,978 (GRCm39) |
|
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,800,187 (GRCm39) |
S393G |
probably benign |
Het |
Herc3 |
T |
C |
6: 58,833,626 (GRCm39) |
L171P |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,095 (GRCm39) |
I221T |
probably benign |
Het |
Itgb2 |
A |
G |
10: 77,400,501 (GRCm39) |
I705V |
probably damaging |
Het |
Map4k4 |
G |
T |
1: 40,001,377 (GRCm39) |
V55F |
probably damaging |
Het |
Mitf |
G |
T |
6: 97,971,391 (GRCm39) |
G186V |
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Nrcam |
T |
C |
12: 44,591,567 (GRCm39) |
F204L |
probably damaging |
Het |
Or10g1 |
A |
G |
14: 52,647,675 (GRCm39) |
L218P |
probably damaging |
Het |
Or10x4 |
A |
G |
1: 174,218,766 (GRCm39) |
M44V |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1e22 |
A |
T |
11: 73,377,215 (GRCm39) |
V145E |
probably damaging |
Het |
Or2a12 |
T |
C |
6: 42,904,371 (GRCm39) |
S69P |
probably benign |
Het |
Or52n4b |
A |
T |
7: 108,144,611 (GRCm39) |
N291I |
probably damaging |
Het |
Or5as1 |
T |
C |
2: 86,980,793 (GRCm39) |
I71V |
probably benign |
Het |
Pclo |
A |
T |
5: 14,726,263 (GRCm39) |
|
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,504,202 (GRCm39) |
Y631N |
probably damaging |
Het |
Pramel19 |
T |
A |
4: 101,798,348 (GRCm39) |
D106E |
possibly damaging |
Het |
Ptk2b |
T |
C |
14: 66,409,966 (GRCm39) |
D462G |
probably benign |
Het |
Rnf19a |
A |
G |
15: 36,247,924 (GRCm39) |
S427P |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,299,378 (GRCm39) |
Y1376F |
possibly damaging |
Het |
Shoc1 |
A |
G |
4: 59,047,543 (GRCm39) |
W1359R |
probably benign |
Het |
Spem1 |
A |
G |
11: 69,711,753 (GRCm39) |
Y304H |
probably damaging |
Het |
Stk38l |
C |
A |
6: 146,677,153 (GRCm39) |
Y450* |
probably null |
Het |
Stx19 |
A |
G |
16: 62,642,337 (GRCm39) |
E51G |
probably damaging |
Het |
Ttc41 |
C |
G |
10: 86,612,443 (GRCm39) |
Q1239E |
probably benign |
Het |
Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
Utp18 |
A |
T |
11: 93,766,915 (GRCm39) |
V264D |
probably damaging |
Het |
V1rd19 |
T |
C |
7: 23,702,714 (GRCm39) |
V60A |
probably damaging |
Het |
Virma |
T |
G |
4: 11,494,819 (GRCm39) |
V40G |
probably damaging |
Het |
Vmn1r160 |
C |
T |
7: 22,570,715 (GRCm39) |
Q23* |
probably null |
Het |
Vmn2r13 |
T |
C |
5: 109,339,805 (GRCm39) |
I57V |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,832 (GRCm39) |
F802L |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,909,646 (GRCm39) |
D57G |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,785,413 (GRCm39) |
N260S |
probably damaging |
Het |
Xirp1 |
C |
A |
9: 119,848,668 (GRCm39) |
A72S |
probably damaging |
Het |
Zfp212 |
T |
C |
6: 47,906,011 (GRCm39) |
V190A |
probably benign |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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'- GTTGCCAGCCGATTTACAGC -3'
(R):5'- CTTTCGGAAGATCACAAAGCAG -3'
Sequencing Primer
(F):5'- CGATTTACAGCGCGCTGAG -3'
(R):5'- AGTCGAACCTGCTGCAC -3'
|
Posted On |
2016-07-22 |