Incidental Mutation 'R6982:Jakmip1'
| ID |
542722 |
| 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 |
045383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R6982 (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 T
at 37282285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 159
(N159I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000174629]
[ENSMUST00000212047]
[ENSMUST00000232332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043794
AA Change: N591I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: N591I
| 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: N591I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: N591I
| 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 damaging
Transcript: ENSMUST00000174629
AA Change: N406I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: N406I
| 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: N159I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232332
AA Change: N591I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,916,639 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
A |
7: 82,164,271 (GRCm39) |
P362H |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,747,818 (GRCm39) |
V1065I |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,849,926 (GRCm39) |
T79A |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,969,856 (GRCm39) |
R724H |
probably benign |
Het |
| Bmp8a |
A |
G |
4: 123,218,934 (GRCm39) |
L158P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,087 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Clybl |
G |
A |
14: 122,639,359 (GRCm39) |
G308R |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,399,247 (GRCm39) |
P367S |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,499 (GRCm39) |
V371A |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,020,807 (GRCm39) |
G393* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,521,033 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,986,899 (GRCm39) |
S3183T |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,746,993 (GRCm39) |
I435N |
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,322,300 (GRCm39) |
A107D |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,343,645 (GRCm38) |
Q367K |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,335,846 (GRCm39) |
D182G |
probably damaging |
Het |
| Gpr162 |
T |
A |
6: 124,837,919 (GRCm39) |
I244F |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,527 (GRCm39) |
Y7* |
probably null |
Het |
| Kdm4a |
A |
T |
4: 118,010,636 (GRCm39) |
|
probably null |
Het |
| Klf5 |
A |
G |
14: 99,550,671 (GRCm39) |
H416R |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,211 (GRCm39) |
V631A |
probably benign |
Het |
| Man1a |
T |
C |
10: 53,950,819 (GRCm39) |
E101G |
possibly damaging |
Het |
| Msantd4 |
T |
A |
9: 4,384,061 (GRCm39) |
N127K |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,256,409 (GRCm39) |
E1248D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,699 (GRCm39) |
I672N |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,634 (GRCm39) |
|
probably null |
Het |
| Nr1h3 |
A |
G |
2: 91,021,104 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,618 (GRCm39) |
I174T |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,905,349 (GRCm39) |
|
probably null |
Het |
| Pcmtd1 |
T |
G |
1: 7,217,906 (GRCm39) |
V118G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,429,664 (GRCm39) |
N3294I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,364,796 (GRCm39) |
T74A |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,442,803 (GRCm39) |
I540N |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,283,556 (GRCm39) |
T218K |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,206,589 (GRCm39) |
D173G |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,084,428 (GRCm39) |
L106P |
possibly damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,660,334 (GRCm39) |
V359M |
probably benign |
Het |
| Slc22a7 |
T |
A |
17: 46,745,563 (GRCm39) |
M323L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,824,184 (GRCm39) |
N149I |
possibly damaging |
Het |
| Spink5 |
G |
A |
18: 44,110,792 (GRCm39) |
G121D |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,143,109 (GRCm39) |
|
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,060,815 (GRCm39) |
S6G |
possibly damaging |
Het |
| Sytl2 |
T |
C |
7: 90,045,772 (GRCm39) |
S641P |
probably damaging |
Het |
| Tcf3 |
A |
T |
10: 80,253,384 (GRCm39) |
F215I |
probably damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,680 (GRCm39) |
D61Y |
probably benign |
Het |
| Ttc7 |
T |
A |
17: 87,614,437 (GRCm39) |
F201I |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,285,867 (GRCm39) |
I208V |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,917 (GRCm39) |
T167A |
probably benign |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,763 (GRCm39) |
L98Q |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,323 (GRCm39) |
Y687H |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,187,445 (GRCm39) |
F783L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,890 (GRCm39) |
Y3016C |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,248 (GRCm39) |
T586A |
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 |
|
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'- AGCTCAGTCCAGCAACTCTC -3'
(R):5'- GCAGTGAAGTTATCCCGAACATAC -3'
Sequencing Primer
(F):5'- AGATGGACTTGTGGCCAGCTC -3'
(R):5'- GAAGTTATCCCGAACATACAGATTTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation