Incidental Mutation 'IGL01356:Jakmip3'
| ID |
75545 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jakmip3
|
| Ensembl Gene |
ENSMUSG00000056856 |
| Gene Name |
janus kinase and microtubule interacting protein 3 |
| Synonyms |
6330417G02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL01356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
138542459-138663892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138619341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 241
(L241P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106111]
[ENSMUST00000166163]
[ENSMUST00000209297]
|
| AlphaFold |
Q5DTN8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068273
AA Change: L241P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065675
Gene: ENSMUSG00000056856
AA Change: L241P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
coiled coil region
|
289 |
421 |
N/A |
INTRINSIC |
|
Pfam:JAKMIP_CC3
|
429 |
626 |
1.2e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106111
|
| SMART Domains |
Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
349 |
N/A |
INTRINSIC |
|
coiled coil region
|
421 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166163
AA Change: L241P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: L241P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
coiled coil region
|
289 |
421 |
N/A |
INTRINSIC |
|
coiled coil region
|
493 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210718
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
C |
8: 46,964,500 (GRCm39) |
|
probably null |
Het |
| Adck2 |
T |
C |
6: 39,560,854 (GRCm39) |
V463A |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
| B4galt4 |
T |
A |
16: 38,574,506 (GRCm39) |
I224N |
probably damaging |
Het |
| Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
| Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
| Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
| Lrig1 |
A |
G |
6: 94,631,901 (GRCm39) |
Y100H |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,586,874 (GRCm39) |
P601S |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,660,865 (GRCm39) |
D419G |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
| Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
| Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
| Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
| Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
| Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
| Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
| Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,293,733 (GRCm39) |
V607L |
probably benign |
Het |
| Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
Het |
|
| Other mutations in Jakmip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Jakmip3
|
APN |
7 |
138,619,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01095:Jakmip3
|
APN |
7 |
138,622,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01718:Jakmip3
|
APN |
7 |
138,591,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01759:Jakmip3
|
APN |
7 |
138,622,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02149:Jakmip3
|
APN |
7 |
138,609,075 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02152:Jakmip3
|
APN |
7 |
138,627,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Jakmip3
|
APN |
7 |
138,628,573 (GRCm39) |
nonsense |
probably null |
|
|
R1175:Jakmip3
|
UTSW |
7 |
138,629,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Jakmip3
|
UTSW |
7 |
138,631,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1509:Jakmip3
|
UTSW |
7 |
138,629,505 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1868:Jakmip3
|
UTSW |
7 |
138,609,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1938:Jakmip3
|
UTSW |
7 |
138,621,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2566:Jakmip3
|
UTSW |
7 |
138,591,197 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3418:Jakmip3
|
UTSW |
7 |
138,619,474 (GRCm39) |
intron |
probably benign |
|
|
R4825:Jakmip3
|
UTSW |
7 |
138,628,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Jakmip3
|
UTSW |
7 |
138,621,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Jakmip3
|
UTSW |
7 |
138,627,164 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5519:Jakmip3
|
UTSW |
7 |
138,609,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Jakmip3
|
UTSW |
7 |
138,622,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Jakmip3
|
UTSW |
7 |
138,620,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Jakmip3
|
UTSW |
7 |
138,625,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Jakmip3
|
UTSW |
7 |
138,621,979 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7191:Jakmip3
|
UTSW |
7 |
138,591,257 (GRCm39) |
splice site |
probably null |
|
|
R7232:Jakmip3
|
UTSW |
7 |
138,609,355 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7385:Jakmip3
|
UTSW |
7 |
138,625,068 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7482:Jakmip3
|
UTSW |
7 |
138,627,228 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7657:Jakmip3
|
UTSW |
7 |
138,620,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Jakmip3
|
UTSW |
7 |
138,620,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Jakmip3
|
UTSW |
7 |
138,628,613 (GRCm39) |
missense |
probably benign |
|
|
R8886:Jakmip3
|
UTSW |
7 |
138,609,171 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9109:Jakmip3
|
UTSW |
7 |
138,622,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9576:Jakmip3
|
UTSW |
7 |
138,621,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9629:Jakmip3
|
UTSW |
7 |
138,625,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9643:Jakmip3
|
UTSW |
7 |
138,621,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Jakmip3
|
UTSW |
7 |
138,621,862 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2013-10-07 |
Incidental Mutation