Incidental Mutation 'R7293:Jakmip1'
| ID |
566544 |
| 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 |
045398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R7293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37284817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 635
(V635I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000174629]
[ENSMUST00000212047]
[ENSMUST00000232332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043794
|
| SMART Domains |
Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
| 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: V635I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: V635I
| 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: ENSMUST00000174629
AA Change: V450I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: V450I
| 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: ENSMUST00000212047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232332
AA Change: V635I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,795,492 (GRCm39) |
G416E |
probably damaging |
Het |
| Acsl5 |
G |
T |
19: 55,279,642 (GRCm39) |
W460L |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,272,634 (GRCm39) |
F614S |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,696,833 (GRCm39) |
T108I |
probably benign |
Het |
| Agmat |
C |
T |
4: 141,483,246 (GRCm39) |
Q227* |
probably null |
Het |
| Alg11 |
A |
G |
8: 22,555,395 (GRCm39) |
N219D |
probably damaging |
Het |
| Amhr2 |
A |
G |
15: 102,355,828 (GRCm39) |
T258A |
probably benign |
Het |
| Ankrd53 |
A |
G |
6: 83,740,178 (GRCm39) |
E82G |
probably null |
Het |
| Blzf1 |
T |
A |
1: 164,123,452 (GRCm39) |
T292S |
possibly damaging |
Het |
| Capza1 |
T |
C |
3: 104,748,151 (GRCm39) |
D71G |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,488,873 (GRCm39) |
F770L |
probably benign |
Het |
| Cckbr |
A |
T |
7: 105,083,852 (GRCm39) |
Q260L |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,085,836 (GRCm39) |
T1163A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,707 (GRCm39) |
S2151P |
unknown |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,229,305 (GRCm39) |
S1928C |
possibly damaging |
Het |
| Col24a1 |
C |
T |
3: 145,192,059 (GRCm39) |
Q1273* |
probably null |
Het |
| Col4a4 |
T |
C |
1: 82,501,664 (GRCm39) |
D363G |
unknown |
Het |
| Copb1 |
A |
T |
7: 113,818,837 (GRCm39) |
M827K |
probably damaging |
Het |
| Crocc |
C |
T |
4: 140,770,867 (GRCm39) |
A351T |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,428 (GRCm39) |
T587A |
probably damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,779,344 (GRCm39) |
R19G |
probably damaging |
Het |
| Cyb5rl |
T |
C |
4: 106,938,143 (GRCm39) |
I165T |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,820 (GRCm39) |
I1916N |
probably damaging |
Het |
| Dvl1 |
T |
C |
4: 155,940,625 (GRCm39) |
M415T |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,001,454 (GRCm39) |
S3845P |
possibly damaging |
Het |
| Eif3b |
A |
G |
5: 140,405,183 (GRCm39) |
Q23R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,449,020 (GRCm39) |
R376L |
probably damaging |
Het |
| Fat3 |
G |
C |
9: 15,826,336 (GRCm39) |
H391D |
|
Het |
| Fat3 |
A |
C |
9: 15,826,592 (GRCm39) |
S305R |
|
Het |
| Fgd3 |
T |
C |
13: 49,418,134 (GRCm39) |
D644G |
probably benign |
Het |
| Fgf7 |
T |
C |
2: 125,877,672 (GRCm39) |
L13P |
probably damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,338 (GRCm39) |
Y41H |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,895,375 (GRCm39) |
I812N |
probably damaging |
Het |
| Glp1r |
C |
T |
17: 31,143,599 (GRCm39) |
H212Y |
probably benign |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| Gpr158 |
G |
A |
2: 21,581,750 (GRCm39) |
V410I |
possibly damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,441 (GRCm39) |
C5* |
probably null |
Het |
| Itgb2l |
A |
C |
16: 96,227,996 (GRCm39) |
Y502* |
probably null |
Het |
| Kplce |
A |
T |
3: 92,776,126 (GRCm39) |
C186S |
probably benign |
Het |
| Krt23 |
C |
T |
11: 99,374,682 (GRCm39) |
M270I |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,939,879 (GRCm39) |
A344V |
|
Het |
| Lin28b |
T |
C |
10: 45,295,282 (GRCm39) |
M134V |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,526,627 (GRCm39) |
Y310F |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,854,822 (GRCm39) |
D2397E |
probably benign |
Het |
| Map6 |
A |
G |
7: 98,985,740 (GRCm39) |
N751S |
possibly damaging |
Het |
| Mgrn1 |
G |
A |
16: 4,750,084 (GRCm39) |
D494N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,184,631 (GRCm39) |
F1567L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,778,549 (GRCm39) |
V461A |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,567,861 (GRCm39) |
S84T |
probably damaging |
Het |
| Nlrp9a |
G |
A |
7: 26,270,694 (GRCm39) |
C908Y |
probably damaging |
Het |
| Or4c3 |
A |
T |
2: 89,851,871 (GRCm39) |
Y180N |
probably damaging |
Het |
| Or4f4b |
A |
G |
2: 111,313,699 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
T |
A |
7: 104,319,925 (GRCm39) |
N5K |
probably damaging |
Het |
| Or8g31-ps1 |
A |
T |
9: 39,276,130 (GRCm39) |
M92L |
probably benign |
Het |
| Parp4 |
CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC |
CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC |
14: 56,885,303 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
C |
A |
3: 28,141,435 (GRCm39) |
T666K |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Pramel7 |
A |
C |
2: 87,322,706 (GRCm39) |
N19K |
probably benign |
Het |
| Prh1 |
C |
G |
6: 132,548,721 (GRCm39) |
P76R |
unknown |
Het |
| Prkd2 |
T |
C |
7: 16,579,865 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ptprq |
G |
A |
10: 107,471,367 (GRCm39) |
Q1345* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,732,948 (GRCm39) |
T653S |
probably benign |
Het |
| Sall2 |
G |
T |
14: 52,551,868 (GRCm39) |
Y442* |
probably null |
Het |
| Slc23a2 |
A |
C |
2: 131,931,026 (GRCm39) |
F158V |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,765,322 (GRCm39) |
R1954L |
unknown |
Het |
| Snx31 |
G |
A |
15: 36,523,596 (GRCm39) |
T362I |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,956,901 (GRCm39) |
T422K |
probably damaging |
Het |
| Tcfl5 |
T |
C |
2: 180,283,958 (GRCm39) |
D142G |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,507,325 (GRCm39) |
T188A |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,735,866 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,871,375 (GRCm39) |
C640S |
possibly damaging |
Het |
| Ulk4 |
T |
G |
9: 121,084,190 (GRCm39) |
N427T |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,872 (GRCm39) |
M182V |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
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 |
|
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'- TGTCTCATGCCAGGACTGTG -3'
(R):5'- TTCCTGTAGCTGGGCAGAAG -3'
Sequencing Primer
(F):5'- CAGATGTGTGCCATGTAGCTCC -3'
(R):5'- TAGCTGGGCAGAAGGGTAAACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation