Incidental Mutation 'R5842:Jakmip1'
ID |
450491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jakmip1
|
Ensembl Gene |
ENSMUSG00000113373 |
Gene Name |
janus kinase and microtubule interacting protein 1 |
Synonyms |
5830437M04Rik, C330021K24Rik, Gababrbp, Marlin-1 |
MMRRC Submission |
043223-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R5842 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 37264612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 418
(R418C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156188
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000137019]
[ENSMUST00000174629]
[ENSMUST00000232332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043794
AA Change: R418C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038504 Gene: ENSMUSG00000063646 AA Change: R418C
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: R418C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113624 Gene: ENSMUSG00000063646 AA Change: R418C
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 benign
Transcript: ENSMUST00000137019
|
SMART Domains |
Protein: ENSMUSP00000122584 Gene: ENSMUSG00000063646
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 |
probably benign
Transcript: ENSMUST00000174629
|
SMART Domains |
Protein: ENSMUSP00000134288 Gene: ENSMUSG00000063646
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: ENSMUST00000232332
AA Change: R418C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
Gatm |
T |
C |
2: 122,434,108 (GRCm39) |
I147V |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
Mov10 |
G |
A |
3: 104,706,695 (GRCm39) |
|
probably benign |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
Slc23a1 |
T |
A |
18: 35,755,935 (GRCm39) |
I393F |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,778,866 (GRCm38) |
M925K |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
Syde2 |
A |
G |
3: 145,704,775 (GRCm39) |
I576V |
probably benign |
Het |
Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
Xrcc3 |
A |
T |
12: 111,770,964 (GRCm39) |
F322I |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGAGATGGTCCATCAGGGTG -3'
(R):5'- CCATATCTGGGTCACATTACTGTG -3'
Sequencing Primer
(F):5'- AAGGACCTGAACGAGTGTCTTGTTAC -3'
(R):5'- CACATTACTGTGCCACAATGTATG -3'
|
Posted On |
2016-12-20 |