Incidental Mutation 'R2425:Jakmip1'
| ID |
250144 |
| 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 |
040387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R2425 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 37299149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 790
(Q790*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121010]
[ENSMUST00000174629]
[ENSMUST00000208852]
[ENSMUST00000232332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000121010
AA Change: Q790*
|
| SMART Domains |
Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: Q790*
| 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 null
Transcript: ENSMUST00000174629
AA Change: Q605*
|
| SMART Domains |
Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: Q605*
| 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 null
Transcript: ENSMUST00000208852
AA Change: Q56*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232332
AA Change: Q790*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
| Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
| Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
| Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
| Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
| CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
| Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
| Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
| Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
| Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
| Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
| Fbxo10 |
C |
T |
4: 45,051,642 (GRCm39) |
E490K |
possibly damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,230,602 (GRCm39) |
T704A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,425,079 (GRCm39) |
K366E |
probably damaging |
Het |
| Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
| Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
| Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
| Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
| Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
| Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
| Rasgrp1 |
C |
G |
2: 117,119,931 (GRCm39) |
|
probably null |
Het |
| Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,982 (GRCm39) |
V54E |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,683,395 (GRCm39) |
D650G |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
| Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
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 |
|
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'- TGGGCCATGCAGAAAATCC -3'
(R):5'- TTCTACTCTGTGACAGGCAGC -3'
Sequencing Primer
(F):5'- ACCTGGAGGCCACCTTGTAC -3'
(R):5'- TACTCTGTGACAGGCAGCCATAAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation