Incidental Mutation 'R9007:Jakmip1'
ID |
685356 |
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 |
068837-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R9007 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37332857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1179
(D1179G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207866]
[ENSMUST00000208827]
[ENSMUST00000232332]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207866
AA Change: D1179G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
silent
Transcript: ENSMUST00000208827
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232332
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (60/60) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
A |
17: 9,226,935 (GRCm39) |
C497S |
probably benign |
Het |
4930453N24Rik |
A |
T |
16: 64,589,377 (GRCm39) |
Y92* |
probably null |
Het |
Adam3 |
A |
G |
8: 25,205,127 (GRCm39) |
V117A |
probably benign |
Het |
Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
Armh4 |
T |
A |
14: 50,011,695 (GRCm39) |
D4V |
probably damaging |
Het |
Atp6v0a4 |
T |
C |
6: 38,029,988 (GRCm39) |
K692R |
probably benign |
Het |
Atp8b1 |
A |
G |
18: 64,684,931 (GRCm39) |
V730A |
probably benign |
Het |
Bdh2 |
T |
C |
3: 134,991,309 (GRCm39) |
|
probably benign |
Het |
Ccnd3 |
T |
A |
17: 47,905,332 (GRCm39) |
|
probably null |
Het |
Chrm4 |
T |
C |
2: 91,758,075 (GRCm39) |
V161A |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,751,892 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,087,930 (GRCm39) |
S349P |
probably benign |
Het |
Ddx55 |
A |
G |
5: 124,697,370 (GRCm39) |
N244S |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,500,825 (GRCm39) |
|
probably benign |
Het |
Dppa3 |
T |
C |
6: 122,605,724 (GRCm39) |
S93P |
probably damaging |
Het |
Echdc1 |
T |
C |
10: 29,220,426 (GRCm39) |
I217T |
probably damaging |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,416 (GRCm39) |
L141Q |
probably damaging |
Het |
Galnt15 |
T |
C |
14: 31,771,935 (GRCm39) |
F451L |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,692,665 (GRCm39) |
R33H |
probably benign |
Het |
Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,188,055 (GRCm39) |
T866A |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,555,150 (GRCm39) |
I678F |
probably benign |
Het |
Lars2 |
A |
T |
9: 123,260,980 (GRCm39) |
R384* |
probably null |
Het |
Lman2 |
T |
C |
13: 55,500,773 (GRCm39) |
D142G |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,587,564 (GRCm39) |
D3897G |
|
Het |
Lrrn1 |
T |
A |
6: 107,544,820 (GRCm39) |
I206N |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,850,143 (GRCm39) |
L802H |
probably damaging |
Het |
Meaf6 |
T |
C |
4: 125,001,450 (GRCm39) |
|
probably benign |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Mis18bp1 |
G |
A |
12: 65,180,616 (GRCm39) |
S955L |
probably benign |
Het |
Mocs1 |
T |
A |
17: 49,756,819 (GRCm39) |
M267K |
probably damaging |
Het |
Mroh3 |
T |
A |
1: 136,128,110 (GRCm39) |
Y263F |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,198,878 (GRCm39) |
|
probably benign |
Het |
Nuak1 |
T |
C |
10: 84,210,492 (GRCm39) |
Y532C |
probably damaging |
Het |
Or51b6 |
A |
G |
7: 103,556,165 (GRCm39) |
H170R |
|
Het |
Or6c205 |
A |
T |
10: 129,086,669 (GRCm39) |
T89S |
possibly damaging |
Het |
Ost4 |
A |
G |
5: 31,064,866 (GRCm39) |
V5A |
possibly damaging |
Het |
P2rx1 |
T |
A |
11: 72,900,059 (GRCm39) |
C159S |
probably damaging |
Het |
Paqr8 |
T |
C |
1: 21,005,614 (GRCm39) |
L256P |
possibly damaging |
Het |
Pgls |
T |
A |
8: 72,048,689 (GRCm39) |
|
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,140,864 (GRCm39) |
E566G |
possibly damaging |
Het |
Plau |
A |
T |
14: 20,889,613 (GRCm39) |
H226L |
probably damaging |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,872 (GRCm39) |
N85S |
probably damaging |
Het |
Rraga |
T |
C |
4: 86,494,675 (GRCm39) |
S174P |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,445,185 (GRCm39) |
D2410E |
probably benign |
Het |
Sgms1 |
A |
T |
19: 32,137,227 (GRCm39) |
M113K |
probably benign |
Het |
Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
Sqor |
T |
A |
2: 122,649,876 (GRCm39) |
Y373* |
probably null |
Het |
Stra6l |
T |
A |
4: 45,864,910 (GRCm39) |
S79T |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,091,915 (GRCm39) |
I1573M |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,146,224 (GRCm39) |
D1674G |
possibly damaging |
Het |
Tex26 |
C |
A |
5: 149,376,884 (GRCm39) |
T91N |
probably damaging |
Het |
Tigd2 |
T |
G |
6: 59,187,887 (GRCm39) |
S251R |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tnks1bp1 |
T |
A |
2: 84,901,048 (GRCm39) |
L1585Q |
probably damaging |
Het |
Trmt10c |
A |
G |
16: 55,855,542 (GRCm39) |
V31A |
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,569,625 (GRCm39) |
S668P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,326,724 (GRCm39) |
D162E |
probably damaging |
Het |
Vmn1r125 |
G |
C |
7: 21,006,503 (GRCm39) |
V134L |
probably benign |
Het |
Vmn1r225 |
T |
A |
17: 20,723,449 (GRCm39) |
F297I |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,845,006 (GRCm39) |
D2030G |
probably benign |
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 |
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 |
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'- GGGAAGAAACGTGGTACTCC -3'
(R):5'- GGGCATCTACATCTTTGGGAG -3'
Sequencing Primer
(F):5'- GTCCAGGTGACTATGTTTTCAAGAC -3'
(R):5'- CATCTACATCTTTGGGAGGGTGG -3'
|
Posted On |
2021-10-11 |