Incidental Mutation 'IGL02006:Jakmip1'
ID |
183202 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jakmip1
|
Ensembl Gene |
ENSMUSG00000113373 |
Gene Name |
janus kinase and microtubule interacting protein 1 |
Synonyms |
5830437M04Rik, C330021K24Rik, Gababrbp, Marlin-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL02006
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37278331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 536
(I536T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000174629]
[ENSMUST00000212047]
[ENSMUST00000212997]
[ENSMUST00000232332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043794
AA Change: I536T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038504 Gene: ENSMUSG00000063646 AA Change: I536T
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
133 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
284 |
377 |
N/A |
INTRINSIC |
low complexity region
|
412 |
424 |
N/A |
INTRINSIC |
low complexity region
|
467 |
487 |
N/A |
INTRINSIC |
coiled coil region
|
515 |
604 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121010
AA Change: I536T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113624 Gene: ENSMUSG00000063646 AA Change: I536T
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
133 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
284 |
377 |
N/A |
INTRINSIC |
Pfam:JAKMIP_CC3
|
415 |
612 |
3.3e-85 |
PFAM |
coiled coil region
|
678 |
819 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126527
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174629
AA Change: I351T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134288 Gene: ENSMUSG00000063646 AA Change: I351T
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
52 |
N/A |
INTRINSIC |
coiled coil region
|
119 |
212 |
N/A |
INTRINSIC |
low complexity region
|
282 |
302 |
N/A |
INTRINSIC |
coiled coil region
|
330 |
422 |
N/A |
INTRINSIC |
coiled coil region
|
493 |
634 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212047
AA Change: I104T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212997
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232332
AA Change: I536T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in social deficits, stereotyped activity, abnormal postnatal vocalizations, reduced anxiety/increased impulsivity and glutamatergic NMDAR signaling deficits. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,117,582 (GRCm39) |
G182S |
probably damaging |
Het |
Akr1b7 |
A |
T |
6: 34,392,385 (GRCm39) |
N66I |
probably benign |
Het |
Arrdc3 |
T |
A |
13: 81,031,893 (GRCm39) |
I42N |
probably damaging |
Het |
Atp6v0d2 |
G |
T |
4: 19,878,325 (GRCm39) |
A316E |
probably damaging |
Het |
Atp8a2 |
A |
G |
14: 60,094,497 (GRCm39) |
V847A |
possibly damaging |
Het |
Ccdc171 |
A |
G |
4: 83,713,479 (GRCm39) |
N1173D |
possibly damaging |
Het |
Crb2 |
A |
C |
2: 37,676,475 (GRCm39) |
D152A |
probably damaging |
Het |
Ecm1 |
T |
C |
3: 95,641,557 (GRCm39) |
E559G |
probably damaging |
Het |
Ephb1 |
A |
G |
9: 102,071,971 (GRCm39) |
|
probably null |
Het |
Fndc11 |
C |
A |
2: 180,863,884 (GRCm39) |
R230S |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,911,037 (GRCm39) |
|
probably null |
Het |
Fyco1 |
G |
A |
9: 123,658,896 (GRCm39) |
Q427* |
probably null |
Het |
Gm17541 |
A |
G |
12: 4,739,619 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
C |
T |
11: 48,779,330 (GRCm39) |
V809M |
probably damaging |
Het |
Gm7293 |
A |
G |
9: 51,534,043 (GRCm39) |
|
noncoding transcript |
Het |
Ift52 |
T |
C |
2: 162,865,289 (GRCm39) |
S47P |
probably benign |
Het |
Iqcf6 |
A |
G |
9: 106,504,510 (GRCm39) |
D58G |
probably benign |
Het |
Itm2b |
T |
C |
14: 73,600,488 (GRCm39) |
|
probably benign |
Het |
Kcnh1 |
T |
G |
1: 191,873,323 (GRCm39) |
M3R |
possibly damaging |
Het |
Kcnh5 |
G |
T |
12: 74,944,322 (GRCm39) |
P976T |
probably damaging |
Het |
Layn |
G |
A |
9: 50,968,591 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,347,317 (GRCm39) |
Q3126L |
probably damaging |
Het |
Meioc |
A |
T |
11: 102,565,092 (GRCm39) |
D180V |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,401,954 (GRCm39) |
C3066S |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,311,418 (GRCm39) |
|
probably null |
Het |
Negr1 |
T |
C |
3: 156,721,810 (GRCm39) |
|
probably benign |
Het |
Nek1 |
T |
A |
8: 61,557,226 (GRCm39) |
N940K |
probably benign |
Het |
Nfkbib |
A |
T |
7: 28,465,667 (GRCm39) |
|
probably null |
Het |
Nol4 |
T |
A |
18: 23,054,975 (GRCm39) |
T152S |
probably damaging |
Het |
Oas3 |
G |
T |
5: 120,907,300 (GRCm39) |
R446S |
probably benign |
Het |
Oosp3 |
C |
T |
19: 11,676,784 (GRCm39) |
L48F |
probably damaging |
Het |
Or2r3 |
A |
G |
6: 42,449,025 (GRCm39) |
V29A |
probably benign |
Het |
Or2w25 |
T |
C |
11: 59,503,985 (GRCm39) |
L65P |
probably damaging |
Het |
Pik3ap1 |
C |
A |
19: 41,291,032 (GRCm39) |
W500L |
probably benign |
Het |
Ppih |
A |
G |
4: 119,168,779 (GRCm39) |
|
probably benign |
Het |
Ro60 |
G |
T |
1: 143,636,084 (GRCm39) |
|
probably benign |
Het |
Slc7a15 |
T |
C |
12: 8,585,508 (GRCm39) |
|
probably null |
Het |
Srl |
T |
C |
16: 4,315,150 (GRCm39) |
E164G |
probably benign |
Het |
Tbx10 |
C |
A |
19: 4,048,186 (GRCm39) |
T237K |
probably damaging |
Het |
Vwa5b2 |
T |
C |
16: 20,415,843 (GRCm39) |
V392A |
probably damaging |
Het |
Wfdc5 |
A |
T |
2: 164,024,483 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,342,306 (GRCm39) |
F1516L |
possibly damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,683 (GRCm39) |
C414R |
probably damaging |
Het |
|
Other mutations in Jakmip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01015:Jakmip1
|
APN |
5 |
37,242,750 (GRCm39) |
nonsense |
probably null |
|
IGL01350:Jakmip1
|
APN |
5 |
37,242,775 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01613:Jakmip1
|
APN |
5 |
37,258,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01875:Jakmip1
|
APN |
5 |
37,278,324 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02225:Jakmip1
|
APN |
5 |
37,262,200 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02389:Jakmip1
|
APN |
5 |
37,258,187 (GRCm39) |
nonsense |
probably null |
|
R0036:Jakmip1
|
UTSW |
5 |
37,291,648 (GRCm39) |
missense |
probably null |
0.38 |
R0194:Jakmip1
|
UTSW |
5 |
37,291,627 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0442:Jakmip1
|
UTSW |
5 |
37,292,897 (GRCm39) |
splice site |
probably null |
|
R0555:Jakmip1
|
UTSW |
5 |
37,276,217 (GRCm39) |
missense |
probably damaging |
0.99 |
R1053:Jakmip1
|
UTSW |
5 |
37,291,593 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1158:Jakmip1
|
UTSW |
5 |
37,248,472 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1470:Jakmip1
|
UTSW |
5 |
37,258,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1470:Jakmip1
|
UTSW |
5 |
37,258,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R2339:Jakmip1
|
UTSW |
5 |
37,248,543 (GRCm39) |
missense |
probably benign |
0.05 |
R2397:Jakmip1
|
UTSW |
5 |
37,258,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R2425:Jakmip1
|
UTSW |
5 |
37,299,149 (GRCm39) |
nonsense |
probably null |
|
R2973:Jakmip1
|
UTSW |
5 |
37,248,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R4758:Jakmip1
|
UTSW |
5 |
37,285,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R4918:Jakmip1
|
UTSW |
5 |
37,248,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R5212:Jakmip1
|
UTSW |
5 |
37,262,245 (GRCm39) |
missense |
probably benign |
0.05 |
R5842:Jakmip1
|
UTSW |
5 |
37,264,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R5926:Jakmip1
|
UTSW |
5 |
37,242,624 (GRCm39) |
unclassified |
probably benign |
|
R6258:Jakmip1
|
UTSW |
5 |
37,299,104 (GRCm39) |
nonsense |
probably null |
|
R6776:Jakmip1
|
UTSW |
5 |
37,344,498 (GRCm39) |
missense |
probably damaging |
0.97 |
R6880:Jakmip1
|
UTSW |
5 |
37,262,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6961:Jakmip1
|
UTSW |
5 |
37,330,697 (GRCm39) |
missense |
probably damaging |
0.98 |
R6982:Jakmip1
|
UTSW |
5 |
37,282,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R7109:Jakmip1
|
UTSW |
5 |
37,332,109 (GRCm39) |
nonsense |
probably null |
|
R7173:Jakmip1
|
UTSW |
5 |
37,248,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7293:Jakmip1
|
UTSW |
5 |
37,284,817 (GRCm39) |
missense |
probably benign |
0.00 |
R7294:Jakmip1
|
UTSW |
5 |
37,274,804 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7361:Jakmip1
|
UTSW |
5 |
37,276,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R7384:Jakmip1
|
UTSW |
5 |
37,330,551 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7454:Jakmip1
|
UTSW |
5 |
37,332,498 (GRCm39) |
missense |
probably damaging |
0.96 |
R7477:Jakmip1
|
UTSW |
5 |
37,330,915 (GRCm39) |
missense |
probably benign |
0.00 |
R7579:Jakmip1
|
UTSW |
5 |
37,284,802 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7617:Jakmip1
|
UTSW |
5 |
37,328,345 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7651:Jakmip1
|
UTSW |
5 |
37,291,617 (GRCm39) |
missense |
probably damaging |
0.97 |
R7702:Jakmip1
|
UTSW |
5 |
37,274,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7822:Jakmip1
|
UTSW |
5 |
37,332,524 (GRCm39) |
missense |
probably damaging |
0.99 |
R7888:Jakmip1
|
UTSW |
5 |
37,262,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Jakmip1
|
UTSW |
5 |
37,331,182 (GRCm39) |
missense |
probably benign |
0.01 |
R7949:Jakmip1
|
UTSW |
5 |
37,339,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R8015:Jakmip1
|
UTSW |
5 |
37,317,109 (GRCm39) |
missense |
unknown |
|
R8039:Jakmip1
|
UTSW |
5 |
37,258,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R8044:Jakmip1
|
UTSW |
5 |
37,311,988 (GRCm39) |
missense |
unknown |
|
R8070:Jakmip1
|
UTSW |
5 |
37,330,631 (GRCm39) |
missense |
probably benign |
0.10 |
R8410:Jakmip1
|
UTSW |
5 |
37,274,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8779:Jakmip1
|
UTSW |
5 |
37,386,672 (GRCm39) |
missense |
unknown |
|
R8946:Jakmip1
|
UTSW |
5 |
37,343,084 (GRCm39) |
critical splice donor site |
probably null |
|
R8992:Jakmip1
|
UTSW |
5 |
37,274,882 (GRCm39) |
missense |
probably benign |
0.23 |
R9007:Jakmip1
|
UTSW |
5 |
37,332,857 (GRCm39) |
missense |
probably benign |
0.04 |
R9531:Jakmip1
|
UTSW |
5 |
37,332,407 (GRCm39) |
missense |
probably damaging |
0.96 |
R9621:Jakmip1
|
UTSW |
5 |
37,274,812 (GRCm39) |
missense |
unknown |
|
RF014:Jakmip1
|
UTSW |
5 |
37,331,870 (GRCm39) |
missense |
possibly damaging |
0.59 |
T0722:Jakmip1
|
UTSW |
5 |
37,276,247 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Jakmip1
|
UTSW |
5 |
37,278,330 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Jakmip1
|
UTSW |
5 |
37,332,651 (GRCm39) |
frame shift |
probably null |
|
Z1177:Jakmip1
|
UTSW |
5 |
37,248,927 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1190:Jakmip1
|
UTSW |
5 |
37,331,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |