Incidental Mutation 'IGL01015:Jakmip1'
ID |
53579 |
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 # |
IGL01015
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 37242750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 13
(E13*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000137019]
[ENSMUST00000172917]
[ENSMUST00000174097]
[ENSMUST00000174629]
[ENSMUST00000173836]
[ENSMUST00000232332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000043794
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000038504 Gene: ENSMUSG00000063646 AA Change: E13*
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 null
Transcript: ENSMUST00000121010
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000113624 Gene: ENSMUSG00000063646 AA Change: E13*
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 |
probably null
Transcript: ENSMUST00000137019
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000122584 Gene: ENSMUSG00000063646 AA Change: E13*
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 |
330 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152445
|
Predicted Effect |
probably null
Transcript: ENSMUST00000172917
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000133913 Gene: ENSMUSG00000063646 AA Change: E13*
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
133 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172940
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174097
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000133770 Gene: ENSMUSG00000063646 AA Change: E13*
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174629
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000134288 Gene: ENSMUSG00000063646 AA Change: E13*
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 null
Transcript: ENSMUST00000173836
AA Change: E13*
|
SMART Domains |
Protein: ENSMUSP00000133767 Gene: ENSMUSG00000063646 AA Change: E13*
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
low complexity region
|
131 |
142 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173048
|
Predicted Effect |
probably null
Transcript: ENSMUST00000232332
AA Change: E13*
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
G |
10: 88,870,961 (GRCm39) |
Y238H |
probably damaging |
Het |
Apol7a |
T |
C |
15: 77,274,055 (GRCm39) |
|
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,773,699 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,541,023 (GRCm39) |
V2368A |
probably damaging |
Het |
Creb3l4 |
A |
G |
3: 90,150,138 (GRCm39) |
M1T |
probably null |
Het |
Dpys |
T |
C |
15: 39,710,045 (GRCm39) |
D128G |
probably damaging |
Het |
Ero1b |
A |
G |
13: 12,616,623 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
C |
7: 27,854,743 (GRCm39) |
C1790R |
probably damaging |
Het |
Fcgr4 |
A |
G |
1: 170,853,358 (GRCm39) |
S188G |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,346,252 (GRCm39) |
D1587G |
probably benign |
Het |
Gm43638 |
T |
A |
5: 87,634,473 (GRCm39) |
R45* |
probably null |
Het |
Gm7647 |
T |
A |
5: 95,111,746 (GRCm39) |
C152S |
probably benign |
Het |
Golga3 |
T |
G |
5: 110,335,583 (GRCm39) |
M299R |
probably benign |
Het |
Iqub |
A |
T |
6: 24,501,005 (GRCm39) |
|
probably benign |
Het |
Irak3 |
A |
T |
10: 119,978,695 (GRCm39) |
Y493* |
probably null |
Het |
Morc3 |
G |
A |
16: 93,659,534 (GRCm39) |
C446Y |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,971,024 (GRCm39) |
D1010N |
probably damaging |
Het |
Or14c44 |
A |
G |
7: 86,061,998 (GRCm39) |
T184A |
probably damaging |
Het |
Or2y16 |
T |
A |
11: 49,335,201 (GRCm39) |
N174K |
probably damaging |
Het |
Or5m9 |
A |
T |
2: 85,876,996 (GRCm39) |
M57L |
possibly damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,482 (GRCm39) |
H1544Y |
possibly damaging |
Het |
Rps2-ps10 |
C |
T |
18: 61,392,896 (GRCm39) |
|
probably benign |
Het |
Smco1 |
T |
C |
16: 32,092,887 (GRCm39) |
V186A |
probably damaging |
Het |
Snx1 |
C |
T |
9: 66,001,713 (GRCm39) |
E314K |
possibly damaging |
Het |
Timd2 |
T |
C |
11: 46,567,170 (GRCm39) |
Y255C |
probably benign |
Het |
Tnc |
A |
T |
4: 63,935,571 (GRCm39) |
I455K |
probably benign |
Het |
Tsc22d1 |
A |
G |
14: 76,656,181 (GRCm39) |
I31V |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,031,996 (GRCm39) |
S360P |
probably benign |
Het |
Uroc1 |
G |
T |
6: 90,335,883 (GRCm39) |
|
probably benign |
Het |
Vmn1r122 |
A |
T |
7: 20,867,761 (GRCm39) |
V98E |
probably damaging |
Het |
|
Other mutations in Jakmip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02006:Jakmip1
|
APN |
5 |
37,278,331 (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 |
2013-06-28 |