Incidental Mutation 'R2973:Jakmip1'
| ID |
255275 |
| 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 |
040526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R2973 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37248871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 177
(K177R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000137019]
[ENSMUST00000172917]
[ENSMUST00000232332]
[ENSMUST00000173836]
[ENSMUST00000174629]
[ENSMUST00000174097]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043794
AA Change: K177R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: K177R
| 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: K177R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: K177R
| 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: ENSMUST00000137019
AA Change: K177R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: K177R
| 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 damaging
Transcript: ENSMUST00000172917
AA Change: K177R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133913
Gene: ENSMUSG00000063646
AA Change: K177R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
133 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201223
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232332
AA Change: K177R
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173836
|
| SMART Domains |
Protein: ENSMUSP00000133767
Gene: ENSMUSG00000063646
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
142 |
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 benign
Transcript: ENSMUST00000174097
|
| SMART Domains |
Protein: ENSMUSP00000133770
Gene: ENSMUSG00000063646
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
74 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1486 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Angptl7 |
T |
A |
4: 148,584,671 (GRCm39) |
K26* |
probably null |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,734,931 (GRCm39) |
|
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,132 (GRCm39) |
F187S |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,251,442 (GRCm39) |
Y530H |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cst9 |
G |
T |
2: 148,677,145 (GRCm39) |
|
probably null |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,373,957 (GRCm39) |
S461P |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,402,916 (GRCm39) |
N279Y |
probably benign |
Het |
| Dhx36 |
C |
G |
3: 62,402,919 (GRCm39) |
G278R |
possibly damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,644 (GRCm39) |
I510T |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,872,759 (GRCm39) |
E54G |
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Hesx1 |
A |
G |
14: 26,722,599 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
G |
A |
6: 106,718,196 (GRCm39) |
P86L |
probably benign |
Het |
| Larp4b |
T |
C |
13: 9,216,347 (GRCm39) |
|
probably benign |
Het |
| Lrrc42 |
A |
T |
4: 107,096,311 (GRCm39) |
D40E |
probably damaging |
Het |
| Mefv |
G |
A |
16: 3,533,558 (GRCm39) |
R238* |
probably null |
Het |
| Mroh9 |
A |
T |
1: 162,884,338 (GRCm39) |
M400K |
probably damaging |
Het |
| Or12j2 |
T |
G |
7: 139,916,300 (GRCm39) |
F175C |
probably damaging |
Het |
| Or5ac22 |
A |
C |
16: 59,135,767 (GRCm39) |
M1R |
probably null |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,464,144 (GRCm39) |
K35E |
probably benign |
Het |
| Ppef2 |
T |
C |
5: 92,386,953 (GRCm39) |
E328G |
probably benign |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rtn1 |
C |
A |
12: 72,270,163 (GRCm39) |
R116L |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,776,086 (GRCm39) |
H31R |
probably benign |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tm9sf1 |
T |
A |
14: 55,878,571 (GRCm39) |
T274S |
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,632,661 (GRCm39) |
I12385S |
probably damaging |
Het |
| Ube2e2 |
T |
C |
14: 18,630,321 (GRCm38) |
D137G |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,996,315 (GRCm39) |
I16F |
probably damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
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 |
|
|
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'- TCTCGGAACTCAAGGCCAAG -3'
(R):5'- TACTACCATCCCGGGAACAG -3'
Sequencing Primer
(F):5'- AGGCCACGCTGAATGTG -3'
(R):5'- AACAGCCAGGACTTTGCG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation