Incidental Mutation 'R6177:Mast3'
| ID |
487824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
044319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6177 (G1)
|
| Quality Score |
83.0076 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71242662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 53
(S53P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166004]
[ENSMUST00000211948]
[ENSMUST00000212001]
[ENSMUST00000212038]
[ENSMUST00000212551]
[ENSMUST00000212673]
[ENSMUST00000212757]
[ENSMUST00000212875]
|
| AlphaFold |
Q3U214 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166004
AA Change: S69P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF1908
|
64 |
337 |
4.4e-128 |
PFAM |
|
S_TKc
|
373 |
646 |
2.77e-99 |
SMART |
|
S_TK_X
|
647 |
710 |
2.39e-1 |
SMART |
|
low complexity region
|
820 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
942 |
N/A |
INTRINSIC |
|
PDZ
|
958 |
1038 |
3.8e-15 |
SMART |
|
low complexity region
|
1053 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1204 |
N/A |
INTRINSIC |
|
low complexity region
|
1231 |
1248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211841
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211948
AA Change: S53P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212001
AA Change: S77P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212038
AA Change: S53P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212551
AA Change: S53P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212673
AA Change: S25P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212757
AA Change: S71P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212875
AA Change: S47P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1380 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,074,896 (GRCm39) |
I306V |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,316 (GRCm39) |
Y259* |
probably null |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,232,478 (GRCm39) |
M25L |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,469,987 (GRCm39) |
D63E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
A |
15: 38,674,172 (GRCm39) |
S55* |
probably null |
Het |
| C1s2 |
T |
G |
6: 124,606,960 (GRCm39) |
D296A |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cadm4 |
G |
A |
7: 24,202,186 (GRCm39) |
V342M |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,420 (GRCm39) |
E119G |
probably damaging |
Het |
| Cavin2 |
G |
T |
1: 51,328,654 (GRCm39) |
S37I |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,868,002 (GRCm38) |
D229G |
probably benign |
Het |
| Cdk5rap2 |
G |
A |
4: 70,199,719 (GRCm39) |
R802C |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,751,897 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,580,395 (GRCm39) |
N519S |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,831 (GRCm39) |
D260G |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,159 (GRCm39) |
|
probably null |
Het |
| Epb41l4a |
A |
T |
18: 33,931,868 (GRCm39) |
|
probably null |
Het |
| Esp1 |
T |
C |
17: 41,039,723 (GRCm39) |
S3P |
possibly damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,746 (GRCm39) |
Y165C |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,059,031 (GRCm39) |
T497A |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,787,834 (GRCm39) |
D288G |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,310,118 (GRCm39) |
L3264* |
probably null |
Het |
| Hyal4 |
T |
A |
6: 24,766,089 (GRCm39) |
L481* |
probably null |
Het |
| Ighv2-7 |
A |
G |
12: 113,771,055 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Jdp2 |
G |
T |
12: 85,685,614 (GRCm39) |
R125L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,013,748 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
AC |
A |
2: 69,340,763 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
C |
T |
13: 100,733,886 (GRCm39) |
D250N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,114 (GRCm39) |
I102T |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,143,707 (GRCm39) |
V1041A |
probably benign |
Het |
| Nkpd1 |
T |
A |
7: 19,257,009 (GRCm39) |
F113I |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,923,490 (GRCm39) |
S6470P |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,420,661 (GRCm39) |
D266G |
possibly damaging |
Het |
| Or9g4b |
C |
T |
2: 85,616,004 (GRCm39) |
R50C |
probably damaging |
Het |
| Pdcd11 |
G |
T |
19: 47,108,722 (GRCm39) |
G1246V |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,996,714 (GRCm39) |
S219T |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,931,993 (GRCm39) |
|
probably null |
Het |
| Polh |
T |
C |
17: 46,495,670 (GRCm39) |
D276G |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,892,071 (GRCm39) |
V1991E |
probably damaging |
Het |
| Polr2g |
G |
A |
19: 8,771,541 (GRCm39) |
R144C |
probably damaging |
Het |
| Pramel16 |
G |
A |
4: 143,675,576 (GRCm39) |
H417Y |
possibly damaging |
Het |
| Prex2 |
A |
C |
1: 11,207,001 (GRCm39) |
T520P |
possibly damaging |
Het |
| Psg21 |
T |
A |
7: 18,386,279 (GRCm39) |
T236S |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,520,836 (GRCm39) |
S761R |
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,510,842 (GRCm39) |
R253Q |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,279,658 (GRCm39) |
V524I |
probably benign |
Het |
| Sde2 |
T |
C |
1: 180,685,784 (GRCm39) |
V112A |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,205,100 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
G |
15: 9,727,618 (GRCm39) |
V155A |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,819,333 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
A |
T |
10: 94,418,249 (GRCm39) |
Y339F |
probably damaging |
Het |
| Tmed6 |
T |
C |
8: 107,792,083 (GRCm39) |
E54G |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,624 (GRCm39) |
|
probably benign |
Het |
| Trim43c |
T |
C |
9: 88,722,600 (GRCm39) |
L82P |
possibly damaging |
Het |
| Txndc2 |
T |
C |
17: 65,945,466 (GRCm39) |
D237G |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,404 (GRCm39) |
C108S |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,390,836 (GRCm39) |
D165V |
probably damaging |
Het |
| Wdr3 |
A |
T |
3: 100,068,468 (GRCm39) |
S13R |
probably damaging |
Het |
| Zdhhc16 |
A |
G |
19: 41,926,198 (GRCm39) |
Y31C |
probably benign |
Het |
| Zfp39 |
A |
T |
11: 58,781,887 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp612 |
A |
T |
8: 110,816,606 (GRCm39) |
L604F |
probably damaging |
Het |
|
| Other mutations in Mast3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Mast3
|
APN |
8 |
71,233,327 (GRCm39) |
splice site |
probably benign |
|
|
IGL01411:Mast3
|
APN |
8 |
71,232,227 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01475:Mast3
|
APN |
8 |
71,232,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Mast3
|
APN |
8 |
71,234,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02104:Mast3
|
APN |
8 |
71,240,550 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02236:Mast3
|
APN |
8 |
71,241,888 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02437:Mast3
|
APN |
8 |
71,233,202 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02704:Mast3
|
APN |
8 |
71,239,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Mast3
|
APN |
8 |
71,241,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Mast3
|
APN |
8 |
71,234,207 (GRCm39) |
nonsense |
probably null |
|
|
gravy
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stuffing
|
UTSW |
8 |
71,237,441 (GRCm39) |
frame shift |
probably null |
|
|
turkey
|
UTSW |
8 |
71,238,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Mast3
|
UTSW |
8 |
71,236,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0280:Mast3
|
UTSW |
8 |
71,240,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0280:Mast3
|
UTSW |
8 |
71,236,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Mast3
|
UTSW |
8 |
71,233,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Mast3
|
UTSW |
8 |
71,239,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Mast3
|
UTSW |
8 |
71,232,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Mast3
|
UTSW |
8 |
71,240,916 (GRCm39) |
splice site |
probably null |
|
|
R1208:Mast3
|
UTSW |
8 |
71,240,916 (GRCm39) |
splice site |
probably null |
|
|
R1333:Mast3
|
UTSW |
8 |
71,233,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Mast3
|
UTSW |
8 |
71,244,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1544:Mast3
|
UTSW |
8 |
71,238,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Mast3
|
UTSW |
8 |
71,237,200 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1842:Mast3
|
UTSW |
8 |
71,233,037 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1936:Mast3
|
UTSW |
8 |
71,237,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Mast3
|
UTSW |
8 |
71,240,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Mast3
|
UTSW |
8 |
71,233,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2220:Mast3
|
UTSW |
8 |
71,233,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3711:Mast3
|
UTSW |
8 |
71,232,251 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3919:Mast3
|
UTSW |
8 |
71,232,066 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4027:Mast3
|
UTSW |
8 |
71,240,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Mast3
|
UTSW |
8 |
71,233,251 (GRCm39) |
nonsense |
probably null |
|
|
R4672:Mast3
|
UTSW |
8 |
71,237,441 (GRCm39) |
frame shift |
probably null |
|
|
R4770:Mast3
|
UTSW |
8 |
71,238,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Mast3
|
UTSW |
8 |
71,233,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Mast3
|
UTSW |
8 |
71,241,559 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5196:Mast3
|
UTSW |
8 |
71,240,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Mast3
|
UTSW |
8 |
71,236,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5428:Mast3
|
UTSW |
8 |
71,237,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5656:Mast3
|
UTSW |
8 |
71,238,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Mast3
|
UTSW |
8 |
71,240,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6186:Mast3
|
UTSW |
8 |
71,238,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6407:Mast3
|
UTSW |
8 |
71,234,772 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6614:Mast3
|
UTSW |
8 |
71,234,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6804:Mast3
|
UTSW |
8 |
71,239,376 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6873:Mast3
|
UTSW |
8 |
71,239,236 (GRCm39) |
nonsense |
probably null |
|
|
R6930:Mast3
|
UTSW |
8 |
71,252,115 (GRCm39) |
nonsense |
probably null |
|
|
R6948:Mast3
|
UTSW |
8 |
71,238,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Mast3
|
UTSW |
8 |
71,232,117 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7253:Mast3
|
UTSW |
8 |
71,242,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7316:Mast3
|
UTSW |
8 |
71,232,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Mast3
|
UTSW |
8 |
71,237,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Mast3
|
UTSW |
8 |
71,238,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Mast3
|
UTSW |
8 |
71,232,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Mast3
|
UTSW |
8 |
71,232,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7521:Mast3
|
UTSW |
8 |
71,241,412 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7576:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7998:Mast3
|
UTSW |
8 |
71,236,214 (GRCm39) |
missense |
probably benign |
|
|
R8021:Mast3
|
UTSW |
8 |
71,240,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8204:Mast3
|
UTSW |
8 |
71,240,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8327:Mast3
|
UTSW |
8 |
71,232,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Mast3
|
UTSW |
8 |
71,233,085 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8415:Mast3
|
UTSW |
8 |
71,233,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Mast3
|
UTSW |
8 |
71,233,085 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8530:Mast3
|
UTSW |
8 |
71,240,877 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8891:Mast3
|
UTSW |
8 |
71,233,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Mast3
|
UTSW |
8 |
71,234,377 (GRCm39) |
splice site |
probably benign |
|
|
R9002:Mast3
|
UTSW |
8 |
71,233,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Mast3
|
UTSW |
8 |
71,249,361 (GRCm39) |
missense |
unknown |
|
|
R9087:Mast3
|
UTSW |
8 |
71,242,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9148:Mast3
|
UTSW |
8 |
71,233,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9364:Mast3
|
UTSW |
8 |
71,238,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Mast3
|
UTSW |
8 |
71,238,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mast3
|
UTSW |
8 |
71,241,682 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTTACCTCCGGGCAAAG -3'
(R):5'- TATTTGCCTAGGGGTGACTCC -3'
Sequencing Primer
(F):5'- GGGGAAACTGATGGCTGCTG -3'
(R):5'- TGGGTCTCAGAAACCCCTTAAAGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation