Incidental Mutation 'R1158:Jakmip1'
| ID |
101870 |
| 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 |
039231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R1158 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
37185679-37307951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37248472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156188
(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 |
possibly damaging
Transcript: ENSMUST00000043794
AA Change: V44A
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: V44A
| 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 |
possibly damaging
Transcript: ENSMUST00000121010
AA Change: V44A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: V44A
| 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 |
possibly damaging
Transcript: ENSMUST00000137019
AA Change: V44A
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: V44A
| 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 |
possibly damaging
Transcript: ENSMUST00000172917
AA Change: V44A
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133913
Gene: ENSMUSG00000063646
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
133 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174097
AA Change: V44A
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133770
Gene: ENSMUSG00000063646
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173836
AA Change: V44A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133767
Gene: ENSMUSG00000063646
AA Change: V44A
| 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 |
possibly damaging
Transcript: ENSMUST00000232332
AA Change: V44A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| 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 |
0.1299 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,004,542 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
| Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
| Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
| Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
| Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
| Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
| Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
| Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 17,987,726 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
| Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,130 (GRCm39) |
V69I |
possibly damaging |
Het |
| Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
C |
4: 156,112,739 (GRCm39) |
I142L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
A |
7: 126,088,614 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
| Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
| Zswim8 |
G |
A |
14: 20,771,736 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation