Incidental Mutation 'R2339:Jakmip1'
ID |
246668 |
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 |
040325-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R2339 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37248543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 68
(Y68H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000137019]
[ENSMUST00000172917]
[ENSMUST00000174097]
[ENSMUST00000173836]
[ENSMUST00000232332]
[ENSMUST00000174629]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043794
AA Change: Y68H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000038504 Gene: ENSMUSG00000063646 AA Change: Y68H
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 benign
Transcript: ENSMUST00000121010
AA Change: Y68H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113624 Gene: ENSMUSG00000063646 AA Change: Y68H
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
AA Change: Y68H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000122584 Gene: ENSMUSG00000063646 AA Change: Y68H
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 |
noncoding transcript
Transcript: ENSMUST00000158082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172917
AA Change: Y68H
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000133913 Gene: ENSMUSG00000063646 AA Change: Y68H
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
133 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174097
AA Change: Y68H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000133770 Gene: ENSMUSG00000063646 AA Change: Y68H
Domain | Start | End | E-Value | Type |
coiled coil region
|
13 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173836
AA Change: Y68H
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133767 Gene: ENSMUSG00000063646 AA Change: Y68H
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: ENSMUST00000201223
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232332
AA Change: Y68H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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 |
|
Meta Mutation Damage Score |
0.0726 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (32/32) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
C |
11: 84,402,323 (GRCm39) |
D121G |
probably benign |
Het |
Ccdc168 |
G |
T |
1: 44,100,023 (GRCm39) |
D358E |
probably benign |
Het |
Cilp2 |
A |
T |
8: 70,335,544 (GRCm39) |
S485T |
probably benign |
Het |
Cux1 |
A |
C |
5: 136,315,862 (GRCm39) |
S1059R |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,314,028 (GRCm39) |
D1948G |
probably benign |
Het |
Fyn |
A |
G |
10: 39,398,781 (GRCm39) |
T126A |
probably benign |
Het |
Gm10134 |
C |
T |
2: 28,396,141 (GRCm39) |
S12F |
probably benign |
Het |
Grm7 |
T |
C |
6: 111,472,642 (GRCm39) |
I827T |
possibly damaging |
Het |
H1f4 |
T |
C |
13: 23,805,943 (GRCm39) |
|
probably benign |
Het |
Hacd4 |
T |
A |
4: 88,341,336 (GRCm39) |
|
probably null |
Het |
Helt |
T |
C |
8: 46,745,709 (GRCm39) |
N58S |
probably damaging |
Het |
Myof |
G |
T |
19: 37,926,375 (GRCm39) |
H1127N |
probably damaging |
Het |
Nbas |
A |
T |
12: 13,412,593 (GRCm39) |
I971L |
probably benign |
Het |
Or4k39 |
C |
T |
2: 111,239,534 (GRCm39) |
T258I |
probably benign |
Het |
Pakap |
G |
A |
4: 57,883,180 (GRCm39) |
R882H |
probably damaging |
Het |
Peg10 |
A |
G |
6: 4,756,102 (GRCm39) |
|
probably benign |
Het |
Pparg |
G |
T |
6: 115,428,005 (GRCm39) |
R164L |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,150,725 (GRCm39) |
N464Y |
possibly damaging |
Het |
Ric8b |
T |
C |
10: 84,805,888 (GRCm39) |
V333A |
probably benign |
Het |
Sall2 |
G |
A |
14: 52,550,813 (GRCm39) |
S792L |
probably damaging |
Het |
Slc5a4b |
C |
A |
10: 75,944,383 (GRCm39) |
L87F |
probably damaging |
Het |
Sox12 |
A |
G |
2: 152,238,958 (GRCm39) |
S221P |
possibly damaging |
Het |
Tpr |
T |
A |
1: 150,289,525 (GRCm39) |
S619T |
probably benign |
Het |
Trdmt1 |
G |
A |
2: 13,524,871 (GRCm39) |
Q195* |
probably null |
Het |
Trpm2 |
A |
T |
10: 77,750,640 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
Upf2 |
A |
T |
2: 6,044,913 (GRCm39) |
|
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,710,389 (GRCm39) |
T704I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAAACGTCCTCAAGGTTTGTC -3'
(R):5'- GCAGTCTTGACTTTGTCTGC -3'
Sequencing Primer
(F):5'- CTCAAGGTTTGTCTCTCCAGAG -3'
(R):5'- GACTTTGTCTGCGGCGC -3'
|
Posted On |
2014-10-30 |