Incidental Mutation 'R6776:Jakmip1'
| ID |
531279 |
| 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 |
044892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R6776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37344498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1313
(E1313K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207866]
[ENSMUST00000208827]
[ENSMUST00000232332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000207619
AA Change: E187K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207866
AA Change: E1313K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208827
AA Change: E204K
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232332
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
A |
G |
8: 10,038,075 (GRCm39) |
H224R |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,446,374 (GRCm39) |
F68S |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,268,830 (GRCm39) |
N981S |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,804,670 (GRCm39) |
S6T |
possibly damaging |
Het |
| Cfap73 |
A |
G |
5: 120,772,276 (GRCm39) |
F9L |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,245,296 (GRCm39) |
L1141V |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 72,036,582 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,027,041 (GRCm39) |
R2050C |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,295,385 (GRCm39) |
Q552* |
probably null |
Het |
| Dysf |
A |
G |
6: 84,041,876 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ecrg4 |
C |
A |
1: 43,781,551 (GRCm39) |
N144K |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,804,318 (GRCm39) |
I338M |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,425,073 (GRCm39) |
I518T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,236 (GRCm39) |
S248P |
probably damaging |
Het |
| Gm5592 |
C |
G |
7: 40,939,153 (GRCm39) |
P812A |
probably damaging |
Het |
| Grik2 |
G |
A |
10: 49,232,085 (GRCm39) |
L482F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,394,288 (GRCm39) |
G202D |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,491,574 (GRCm39) |
A3671T |
possibly damaging |
Het |
| Hexa |
G |
T |
9: 59,465,355 (GRCm39) |
W203C |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,042,700 (GRCm39) |
T1217S |
probably benign |
Het |
| Ipo7 |
A |
G |
7: 109,646,272 (GRCm39) |
D557G |
probably damaging |
Het |
| Irx3 |
T |
A |
8: 92,526,463 (GRCm39) |
T414S |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,248 (GRCm39) |
D194G |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,476,298 (GRCm39) |
L46P |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,817 (GRCm39) |
I329T |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,817 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
C |
14: 79,650,521 (GRCm39) |
V323A |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,896,939 (GRCm39) |
I894N |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,053 (GRCm39) |
V887I |
possibly damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
| Pcnx1 |
C |
T |
12: 82,009,496 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,701,510 (GRCm39) |
Y1475* |
probably null |
Het |
| Pla2g5 |
A |
G |
4: 138,527,964 (GRCm39) |
S101P |
probably benign |
Het |
| Plekha4 |
C |
A |
7: 45,184,241 (GRCm39) |
A76E |
probably damaging |
Het |
| Plk2 |
T |
C |
13: 110,536,325 (GRCm39) |
I592T |
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,345,252 (GRCm39) |
R79* |
probably null |
Het |
| Ppp2r3d |
A |
T |
9: 101,090,061 (GRCm39) |
H87Q |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Prrt4 |
G |
T |
6: 29,176,551 (GRCm39) |
T258K |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,083,194 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,423,244 (GRCm39) |
I365N |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,612,108 (GRCm39) |
G265D |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,555,636 (GRCm39) |
T83S |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,170,187 (GRCm39) |
S1989P |
probably damaging |
Het |
| Tnfaip3 |
T |
G |
10: 18,881,324 (GRCm39) |
T321P |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,808,320 (GRCm39) |
P1623L |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,601 (GRCm39) |
N85S |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,788,066 (GRCm39) |
R3544* |
probably null |
Het |
| Ttf2 |
A |
T |
3: 100,859,869 (GRCm39) |
V695E |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,720,512 (GRCm39) |
E509G |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,767,709 (GRCm39) |
I94V |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,031,911 (GRCm39) |
Q2304K |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,200,935 (GRCm39) |
Y33C |
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 |
|
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 |
|
|
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'- CTGGAACTTTTAGGATGGTAGCATG -3'
(R):5'- GTCTCCAAGACAGCACATGG -3'
Sequencing Primer
(F):5'- TTAGGATGGTAGCATGTAACCC -3'
(R):5'- CACATGGAAGCAGGTGGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation