Incidental Mutation 'R7482:Jakmip3'
| ID |
579857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jakmip3
|
| Ensembl Gene |
ENSMUSG00000056856 |
| Gene Name |
janus kinase and microtubule interacting protein 3 |
| Synonyms |
6330417G02Rik |
| MMRRC Submission |
045556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R7482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138542459-138663892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 138627228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 411
(C411S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106111]
[ENSMUST00000166163]
[ENSMUST00000209297]
|
| AlphaFold |
Q5DTN8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000106111
AA Change: C411S
|
| SMART Domains |
Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: C411S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
349 |
N/A |
INTRINSIC |
|
coiled coil region
|
421 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166163
AA Change: C483S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: C483S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
coiled coil region
|
289 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
493 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209297
AA Change: C411S
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
A |
13: 111,392,673 (GRCm39) |
R336H |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ap2a2 |
C |
T |
7: 141,182,210 (GRCm39) |
P180S |
possibly damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,693,199 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
T |
10: 127,021,540 (GRCm39) |
M226K |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,088,254 (GRCm39) |
D45G |
probably damaging |
Het |
| Bsn |
C |
A |
9: 107,990,728 (GRCm39) |
V1675F |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,938,963 (GRCm39) |
R820L |
possibly damaging |
Het |
| Cldn7 |
A |
G |
11: 69,856,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,435,926 (GRCm39) |
V615A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,460,194 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
T |
A |
3: 83,156,032 (GRCm39) |
S798T |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,044,202 (GRCm39) |
M311K |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,501,941 (GRCm39) |
C4225S |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 54,079,629 (GRCm39) |
H8R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,033 (GRCm39) |
E490G |
probably benign |
Het |
| Klhl24 |
A |
G |
16: 19,933,405 (GRCm39) |
T339A |
possibly damaging |
Het |
| Mctp1 |
A |
T |
13: 76,889,579 (GRCm39) |
|
probably null |
Het |
| Mlf1 |
T |
A |
3: 67,300,227 (GRCm39) |
H81Q |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,587,324 (GRCm39) |
Y652N |
|
Het |
| Myo9b |
A |
G |
8: 71,795,442 (GRCm39) |
S804G |
probably benign |
Het |
| Or8b1 |
T |
G |
9: 38,399,747 (GRCm39) |
C141G |
probably damaging |
Het |
| Pramel58 |
T |
C |
5: 94,830,739 (GRCm39) |
I79T |
possibly damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,317,760 (GRCm39) |
E1043G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,518 (GRCm39) |
V941A |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,943 (GRCm39) |
V71A |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,749,328 (GRCm39) |
A121T |
probably benign |
Het |
| Stx17 |
A |
G |
4: 48,181,722 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tas2r105 |
A |
T |
6: 131,663,972 (GRCm39) |
M152K |
probably benign |
Het |
| Tlr11 |
G |
T |
14: 50,600,456 (GRCm39) |
C814F |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,927 (GRCm39) |
V802A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,637 (GRCm39) |
N184D |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,510,468 (GRCm39) |
K671E |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,220 (GRCm39) |
F246L |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,232,544 (GRCm39) |
L355V |
probably benign |
Het |
|
| Other mutations in Jakmip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Jakmip3
|
APN |
7 |
138,619,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01095:Jakmip3
|
APN |
7 |
138,622,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01356:Jakmip3
|
APN |
7 |
138,619,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01718:Jakmip3
|
APN |
7 |
138,591,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01759:Jakmip3
|
APN |
7 |
138,622,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02149:Jakmip3
|
APN |
7 |
138,609,075 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02152:Jakmip3
|
APN |
7 |
138,627,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Jakmip3
|
APN |
7 |
138,628,573 (GRCm39) |
nonsense |
probably null |
|
|
R1175:Jakmip3
|
UTSW |
7 |
138,629,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Jakmip3
|
UTSW |
7 |
138,631,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1509:Jakmip3
|
UTSW |
7 |
138,629,505 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1868:Jakmip3
|
UTSW |
7 |
138,609,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1938:Jakmip3
|
UTSW |
7 |
138,621,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2566:Jakmip3
|
UTSW |
7 |
138,591,197 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3418:Jakmip3
|
UTSW |
7 |
138,619,474 (GRCm39) |
intron |
probably benign |
|
|
R4825:Jakmip3
|
UTSW |
7 |
138,628,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Jakmip3
|
UTSW |
7 |
138,621,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Jakmip3
|
UTSW |
7 |
138,627,164 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5519:Jakmip3
|
UTSW |
7 |
138,609,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Jakmip3
|
UTSW |
7 |
138,622,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Jakmip3
|
UTSW |
7 |
138,620,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Jakmip3
|
UTSW |
7 |
138,625,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Jakmip3
|
UTSW |
7 |
138,621,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7191:Jakmip3
|
UTSW |
7 |
138,591,257 (GRCm39) |
splice site |
probably null |
|
|
R7232:Jakmip3
|
UTSW |
7 |
138,609,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7385:Jakmip3
|
UTSW |
7 |
138,625,068 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7657:Jakmip3
|
UTSW |
7 |
138,620,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Jakmip3
|
UTSW |
7 |
138,620,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Jakmip3
|
UTSW |
7 |
138,628,613 (GRCm39) |
missense |
probably benign |
|
|
R8886:Jakmip3
|
UTSW |
7 |
138,609,171 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9109:Jakmip3
|
UTSW |
7 |
138,622,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9576:Jakmip3
|
UTSW |
7 |
138,621,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9629:Jakmip3
|
UTSW |
7 |
138,625,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9643:Jakmip3
|
UTSW |
7 |
138,621,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Jakmip3
|
UTSW |
7 |
138,621,862 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGCTGAGACCTCACTC -3'
(R):5'- TTGTCACTGTGCAGAGGAGAG -3'
Sequencing Primer
(F):5'- TCACTCCCGGGCAACAG -3'
(R):5'- CACTGTGCAGAGGAGAGGACTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation