Incidental Mutation 'R1842:Mast3'
| ID |
205824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
039867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71233037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1108
(F1108L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034296]
[ENSMUST00000166004]
[ENSMUST00000211948]
|
| AlphaFold |
Q3U214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034296
|
| SMART Domains |
Protein: ENSMUSP00000034296
Gene: ENSMUSG00000031834
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
7 |
79 |
4e-7 |
SMART |
|
RhoGAP
|
122 |
286 |
2.36e-18 |
SMART |
|
low complexity region
|
291 |
311 |
N/A |
INTRINSIC |
|
SH2
|
322 |
405 |
4.51e-26 |
SMART |
|
Pfam:PI3K_P85_iSH2
|
422 |
590 |
1.7e-64 |
PFAM |
|
SH2
|
614 |
696 |
9.96e-28 |
SMART |
|
low complexity region
|
713 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142370
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166004
AA Change: F1108L
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: F1108L
| 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: ENSMUST00000191396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211948
AA Change: F1092L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212140
AA Change: F343L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212172
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 90.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
T |
11: 110,087,865 (GRCm39) |
N1087K |
probably benign |
Het |
| Abcc3 |
G |
A |
11: 94,250,438 (GRCm39) |
T921I |
probably benign |
Het |
| Abr |
T |
A |
11: 76,399,812 (GRCm39) |
I4F |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,330,812 (GRCm39) |
V25D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,231 (GRCm39) |
M1505K |
probably damaging |
Het |
| Alms1-ps2 |
T |
C |
6: 85,773,231 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
C |
G |
12: 8,061,559 (GRCm39) |
T3347S |
probably damaging |
Het |
| Arhgap27 |
C |
A |
11: 103,230,822 (GRCm39) |
G11W |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,393,605 (GRCm39) |
I106F |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,806 (GRCm39) |
D101V |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,188,324 (GRCm39) |
E566G |
probably benign |
Het |
| Cenpm |
T |
C |
15: 82,123,565 (GRCm39) |
S111G |
probably benign |
Het |
| Cep55 |
A |
G |
19: 38,046,348 (GRCm39) |
I34V |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,585 (GRCm39) |
L190S |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,203,200 (GRCm39) |
N703S |
probably null |
Het |
| E030025P04Rik |
G |
A |
11: 109,030,396 (GRCm39) |
L164F |
unknown |
Het |
| Efcab5 |
A |
G |
11: 77,025,701 (GRCm39) |
V538A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,422 (GRCm39) |
S177P |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,775,958 (GRCm39) |
C31S |
probably damaging |
Het |
| Eif2d |
C |
A |
1: 131,098,797 (GRCm39) |
Q532K |
probably damaging |
Het |
| Elf3 |
T |
C |
1: 135,184,531 (GRCm39) |
D175G |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,012,129 (GRCm39) |
V449A |
probably damaging |
Het |
| Fam110a |
A |
T |
2: 151,811,954 (GRCm39) |
I272N |
probably damaging |
Het |
| Fbxo34 |
A |
G |
14: 47,768,464 (GRCm39) |
D608G |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,058 (GRCm39) |
L132P |
probably damaging |
Het |
| Frg2f1 |
A |
T |
4: 119,388,277 (GRCm39) |
V74D |
possibly damaging |
Het |
| Gad1 |
G |
T |
2: 70,404,597 (GRCm39) |
E162D |
probably benign |
Het |
| Glb1l |
A |
G |
1: 75,177,104 (GRCm39) |
V444A |
probably damaging |
Het |
| Gm10770 |
G |
A |
2: 150,021,076 (GRCm39) |
T147I |
probably damaging |
Het |
| Gm43302 |
T |
C |
5: 105,425,602 (GRCm39) |
I276V |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,244 (GRCm39) |
H1314R |
probably damaging |
Het |
| Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
| Hcn1 |
T |
C |
13: 118,112,544 (GRCm39) |
I836T |
probably damaging |
Het |
| Hspa5 |
A |
G |
2: 34,665,815 (GRCm39) |
D553G |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,410,631 (GRCm39) |
I194N |
probably damaging |
Het |
| Kansl3 |
A |
G |
1: 36,390,825 (GRCm39) |
V304A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 927,798 (GRCm39) |
S716L |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,409,337 (GRCm39) |
I1594T |
possibly damaging |
Het |
| Lrp2bp |
A |
G |
8: 46,464,152 (GRCm39) |
D15G |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,686,588 (GRCm39) |
L170P |
probably damaging |
Het |
| Mettl5 |
G |
T |
2: 69,715,686 (GRCm39) |
L6I |
unknown |
Het |
| Mfsd14a |
A |
T |
3: 116,426,057 (GRCm39) |
F447I |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,228,546 (GRCm39) |
I642V |
probably damaging |
Het |
| Necap1 |
A |
G |
6: 122,851,547 (GRCm39) |
Y7C |
probably damaging |
Het |
| Nsd1 |
G |
A |
13: 55,394,258 (GRCm39) |
E723K |
probably damaging |
Het |
| Nsun3 |
A |
T |
16: 62,596,755 (GRCm39) |
L121H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,288 (GRCm39) |
M284K |
probably damaging |
Het |
| Nutf2 |
T |
C |
8: 106,603,242 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
T |
18: 7,223,551 (GRCm39) |
D497E |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,759,601 (GRCm39) |
N8Y |
probably damaging |
Het |
| Or5d38 |
A |
T |
2: 87,954,471 (GRCm39) |
M286K |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,205,912 (GRCm39) |
E288G |
probably damaging |
Het |
| Peg10 |
A |
T |
6: 4,756,381 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
G |
A |
7: 88,099,730 (GRCm39) |
E82K |
possibly damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,675,543 (GRCm39) |
E206V |
probably damaging |
Het |
| Saxo5 |
T |
A |
8: 3,533,668 (GRCm39) |
F295L |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,384,063 (GRCm39) |
V521I |
probably damaging |
Het |
| Sgpp1 |
C |
T |
12: 75,762,982 (GRCm39) |
V400M |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,681,891 (GRCm39) |
S152P |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,709,477 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
T |
C |
13: 59,890,320 (GRCm39) |
Y82C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,023,513 (GRCm39) |
K640R |
probably benign |
Het |
| Svil |
A |
G |
18: 5,062,373 (GRCm39) |
T898A |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,510 (GRCm39) |
|
probably null |
Het |
| Tomm40 |
A |
G |
7: 19,447,650 (GRCm39) |
S127P |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,649 (GRCm39) |
V493D |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,989,988 (GRCm39) |
V288A |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,558 (GRCm39) |
R2239W |
probably damaging |
Het |
| Zscan2 |
A |
C |
7: 80,525,301 (GRCm39) |
K341Q |
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 |
|
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 |
|
R6177:Mast3
|
UTSW |
8 |
71,242,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TATACATTCATATCCACAGGCAGAG -3'
(R):5'- AGGTGACTGGTGTTCCTTCC -3'
Sequencing Primer
(F):5'- TCCACAGGCAGAGTTTCATAAAG -3'
(R):5'- ACTGGTGTTCCTTCCGCAGAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation