Incidental Mutation 'R7294:Jakmip1'
| ID |
566613 |
| 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 |
045399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R7294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37274804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 441
(F441L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043794]
[ENSMUST00000121010]
[ENSMUST00000174629]
[ENSMUST00000212047]
[ENSMUST00000212997]
[ENSMUST00000232332]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043794
AA Change: F441L
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: F441L
| 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: F441L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: F441L
| 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: F256L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: F256L
| 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 |
possibly damaging
Transcript: ENSMUST00000212047
AA Change: F9L
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212997
AA Change: I42T
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232332
AA Change: F441L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (49/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,650,541 (GRCm39) |
Y1216* |
probably null |
Het |
| Abca17 |
G |
A |
17: 24,539,983 (GRCm39) |
T415M |
not run |
Het |
| Adam1a |
G |
T |
5: 121,658,068 (GRCm39) |
C408* |
probably null |
Het |
| Adamts9 |
G |
A |
6: 92,871,270 (GRCm39) |
T603M |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,370,301 (GRCm39) |
E179G |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,831 (GRCm39) |
T316A |
possibly damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,950 (GRCm39) |
I23M |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,619,917 (GRCm39) |
E1386D |
probably damaging |
Het |
| Cdcp1 |
C |
T |
9: 123,006,986 (GRCm39) |
C587Y |
probably benign |
Het |
| Cdh22 |
A |
C |
2: 164,984,013 (GRCm39) |
V413G |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,256 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,885,168 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,756,005 (GRCm39) |
Y95N |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,783,782 (GRCm39) |
S178P |
possibly damaging |
Het |
| Fhod3 |
A |
G |
18: 25,266,037 (GRCm39) |
E1575G |
probably damaging |
Het |
| Gfpt2 |
C |
T |
11: 49,709,435 (GRCm39) |
R209* |
probably null |
Het |
| Heg1 |
T |
C |
16: 33,546,859 (GRCm39) |
S573P |
probably damaging |
Het |
| Hinfp |
A |
G |
9: 44,210,567 (GRCm39) |
C152R |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,211 (GRCm39) |
T38I |
probably benign |
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Kpna4 |
A |
C |
3: 68,999,956 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,022,848 (GRCm39) |
I456F |
possibly damaging |
Het |
| Leprotl1 |
A |
T |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,835 (GRCm39) |
T42S |
possibly damaging |
Het |
| Naa80 |
T |
G |
9: 107,460,182 (GRCm39) |
F26V |
possibly damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,852,578 (GRCm39) |
T419A |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or4c12 |
A |
C |
2: 89,774,068 (GRCm39) |
Y130* |
probably null |
Het |
| Or52b3 |
T |
A |
7: 102,204,160 (GRCm39) |
I223N |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,515,246 (GRCm39) |
C66* |
probably null |
Het |
| Pde10a |
A |
T |
17: 8,975,853 (GRCm39) |
N53Y |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,342,312 (GRCm39) |
N711S |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Slc26a1 |
G |
T |
5: 108,821,698 (GRCm39) |
R80S |
possibly damaging |
Het |
| Slc2a4 |
T |
C |
11: 69,836,225 (GRCm39) |
D262G |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,163 (GRCm39) |
S226R |
probably benign |
Het |
| Srsf4 |
A |
G |
4: 131,627,772 (GRCm39) |
S289G |
unknown |
Het |
| Stil |
T |
C |
4: 114,864,480 (GRCm39) |
V127A |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,047,483 (GRCm39) |
|
probably null |
Het |
| Tbc1d22a |
T |
A |
15: 86,196,036 (GRCm39) |
Y336N |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,445,843 (GRCm39) |
G116E |
probably damaging |
Het |
| Thrb |
A |
G |
14: 17,826,963 (GRCm38) |
|
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,439 (GRCm39) |
I182K |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,534,399 (GRCm39) |
H2253Q |
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,893,928 (GRCm39) |
N158K |
possibly damaging |
Het |
| Toporsl |
A |
C |
4: 52,611,903 (GRCm39) |
T599P |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,858,176 (GRCm39) |
A1259V |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,395,411 (GRCm39) |
I392T |
possibly 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 |
|
|
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 |
|
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'- TCCTGCCACCTAGTGATCATTG -3'
(R):5'- TCTAAGGCATGGCAGGATTGAC -3'
Sequencing Primer
(F):5'- CACCTAGTGATCATTGCTATGCTAG -3'
(R):5'- TTGACCAGCAGAGAGGGAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation