Incidental Mutation 'IGL02725:Jakmip2'
| ID |
305170 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jakmip2
|
| Ensembl Gene |
ENSMUSG00000024502 |
| Gene Name |
janus kinase and microtubule interacting protein 2 |
| Synonyms |
6430702L21Rik, D930046L20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
IGL02725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
43664472-43820838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43695655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 540
(S540P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082254]
|
| AlphaFold |
D3YXK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082254
AA Change: S540P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: S540P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
13 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
206 |
249 |
N/A |
INTRINSIC |
|
Pfam:JAKMIP_CC3
|
409 |
602 |
2.3e-86 |
PFAM |
|
coiled coil region
|
698 |
808 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,611,445 (GRCm39) |
I414T |
possibly damaging |
Het |
| Agpat3 |
A |
C |
10: 78,113,889 (GRCm39) |
D266E |
probably benign |
Het |
| Alpk3 |
G |
T |
7: 80,743,358 (GRCm39) |
Q1058H |
possibly damaging |
Het |
| Atat1 |
A |
T |
17: 36,220,381 (GRCm39) |
V37E |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,119,344 (GRCm39) |
V124A |
probably damaging |
Het |
| Bmt2 |
T |
C |
6: 13,628,495 (GRCm39) |
E396G |
probably damaging |
Het |
| Ccdc50 |
T |
C |
16: 27,255,347 (GRCm39) |
C237R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,778,312 (GRCm39) |
I2790M |
possibly damaging |
Het |
| Chkb |
A |
G |
15: 89,313,340 (GRCm39) |
L82P |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,123,532 (GRCm39) |
Y1458H |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,554,208 (GRCm39) |
K320N |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,243,605 (GRCm39) |
|
probably benign |
Het |
| Cyp20a1 |
C |
T |
1: 60,405,865 (GRCm39) |
R220W |
probably benign |
Het |
| Cyp27a1 |
C |
T |
1: 74,774,862 (GRCm39) |
P268S |
probably damaging |
Het |
| Cyp2e1 |
T |
G |
7: 140,343,828 (GRCm39) |
I22S |
probably null |
Het |
| Defb34 |
A |
G |
8: 19,173,774 (GRCm39) |
T3A |
unknown |
Het |
| Dpy19l3 |
A |
T |
7: 35,411,343 (GRCm39) |
M422K |
probably benign |
Het |
| Eif4g3 |
A |
T |
4: 137,897,782 (GRCm39) |
|
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,571,758 (GRCm39) |
S7P |
probably damaging |
Het |
| Fam151a |
T |
G |
4: 106,605,211 (GRCm39) |
S524R |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,418,458 (GRCm39) |
V625E |
probably benign |
Het |
| Glmn |
G |
A |
5: 107,723,155 (GRCm39) |
P112S |
possibly damaging |
Het |
| Grm5 |
A |
C |
7: 87,723,873 (GRCm39) |
D721A |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,953,019 (GRCm39) |
V445A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,480,654 (GRCm39) |
E4507D |
possibly damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,295,540 (GRCm39) |
E2583A |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,440,867 (GRCm39) |
I49F |
probably benign |
Het |
| Ints8 |
A |
C |
4: 11,239,406 (GRCm39) |
C306W |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,102,667 (GRCm39) |
V838A |
possibly damaging |
Het |
| Klk10 |
T |
C |
7: 43,431,044 (GRCm39) |
L29P |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,935,412 (GRCm39) |
I3627K |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 52,011,195 (GRCm39) |
S124P |
probably damaging |
Het |
| Nav2 |
A |
T |
7: 49,214,843 (GRCm39) |
K1632I |
probably damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,690 (GRCm39) |
V156A |
probably benign |
Het |
| Pde2a |
G |
T |
7: 101,156,425 (GRCm39) |
M616I |
probably null |
Het |
| Pdia2 |
T |
C |
17: 26,415,506 (GRCm39) |
D440G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,471 (GRCm39) |
S14P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,079,031 (GRCm39) |
S383P |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,129,576 (GRCm39) |
|
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,411 (GRCm39) |
D504G |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,900,589 (GRCm39) |
L1026* |
probably null |
Het |
| Slc1a4 |
A |
T |
11: 20,258,408 (GRCm39) |
S264T |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,886,055 (GRCm39) |
I739T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stat5b |
A |
T |
11: 100,695,840 (GRCm39) |
D47E |
possibly damaging |
Het |
| Taar7b |
A |
T |
10: 23,875,961 (GRCm39) |
Y42F |
probably benign |
Het |
| Tfdp2 |
T |
A |
9: 96,169,748 (GRCm39) |
I33K |
possibly damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,448 (GRCm39) |
H149R |
probably benign |
Het |
| Tmco6 |
A |
G |
18: 36,871,760 (GRCm39) |
M257V |
probably benign |
Het |
| Tuba8 |
G |
T |
6: 121,202,916 (GRCm39) |
G410* |
probably null |
Het |
| Ubd |
T |
A |
17: 37,504,853 (GRCm39) |
V4D |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,054,284 (GRCm39) |
V166I |
probably benign |
Het |
| Vmn2r70 |
C |
T |
7: 85,214,553 (GRCm39) |
V200I |
possibly damaging |
Het |
| Wdcp |
A |
T |
12: 4,901,206 (GRCm39) |
N354I |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,652,618 (GRCm39) |
Y410F |
possibly damaging |
Het |
| Zc3hav1 |
G |
T |
6: 38,309,127 (GRCm39) |
P565Q |
probably damaging |
Het |
| Zfp398 |
T |
C |
6: 47,842,737 (GRCm39) |
V131A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,579,063 (GRCm39) |
D144G |
possibly damaging |
Het |
| Zpbp |
T |
A |
11: 11,412,358 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Jakmip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Jakmip2
|
APN |
18 |
43,723,744 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01311:Jakmip2
|
APN |
18 |
43,690,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL01467:Jakmip2
|
APN |
18 |
43,715,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01947:Jakmip2
|
APN |
18 |
43,680,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02010:Jakmip2
|
APN |
18 |
43,692,158 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02040:Jakmip2
|
APN |
18 |
43,704,919 (GRCm39) |
missense |
probably benign |
|
|
IGL02143:Jakmip2
|
APN |
18 |
43,696,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02246:Jakmip2
|
APN |
18 |
43,700,223 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02350:Jakmip2
|
APN |
18 |
43,680,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02357:Jakmip2
|
APN |
18 |
43,680,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02833:Jakmip2
|
APN |
18 |
43,708,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL02866:Jakmip2
|
APN |
18 |
43,685,266 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02981:Jakmip2
|
APN |
18 |
43,695,595 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0042:Jakmip2
|
UTSW |
18 |
43,685,210 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Jakmip2
|
UTSW |
18 |
43,715,170 (GRCm39) |
missense |
probably benign |
|
|
R0436:Jakmip2
|
UTSW |
18 |
43,691,234 (GRCm39) |
nonsense |
probably null |
|
|
R1453:Jakmip2
|
UTSW |
18 |
43,692,279 (GRCm39) |
splice site |
probably null |
|
|
R1682:Jakmip2
|
UTSW |
18 |
43,714,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1829:Jakmip2
|
UTSW |
18 |
43,715,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1908:Jakmip2
|
UTSW |
18 |
43,700,209 (GRCm39) |
missense |
probably benign |
|
|
R2070:Jakmip2
|
UTSW |
18 |
43,696,395 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2168:Jakmip2
|
UTSW |
18 |
43,698,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2985:Jakmip2
|
UTSW |
18 |
43,704,246 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3896:Jakmip2
|
UTSW |
18 |
43,682,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4243:Jakmip2
|
UTSW |
18 |
43,710,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4245:Jakmip2
|
UTSW |
18 |
43,710,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4614:Jakmip2
|
UTSW |
18 |
43,695,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Jakmip2
|
UTSW |
18 |
43,710,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4830:Jakmip2
|
UTSW |
18 |
43,700,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4852:Jakmip2
|
UTSW |
18 |
43,710,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5099:Jakmip2
|
UTSW |
18 |
43,701,173 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5381:Jakmip2
|
UTSW |
18 |
43,715,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Jakmip2
|
UTSW |
18 |
43,692,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5883:Jakmip2
|
UTSW |
18 |
43,715,059 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6261:Jakmip2
|
UTSW |
18 |
43,708,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6382:Jakmip2
|
UTSW |
18 |
43,704,244 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6527:Jakmip2
|
UTSW |
18 |
43,689,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6612:Jakmip2
|
UTSW |
18 |
43,690,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6679:Jakmip2
|
UTSW |
18 |
43,699,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7070:Jakmip2
|
UTSW |
18 |
43,690,393 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7103:Jakmip2
|
UTSW |
18 |
43,673,648 (GRCm39) |
splice site |
probably null |
|
|
R7434:Jakmip2
|
UTSW |
18 |
43,690,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7446:Jakmip2
|
UTSW |
18 |
43,710,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Jakmip2
|
UTSW |
18 |
43,704,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7586:Jakmip2
|
UTSW |
18 |
43,673,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7720:Jakmip2
|
UTSW |
18 |
43,704,973 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7999:Jakmip2
|
UTSW |
18 |
43,696,398 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9002:Jakmip2
|
UTSW |
18 |
43,715,323 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9184:Jakmip2
|
UTSW |
18 |
43,715,352 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9248:Jakmip2
|
UTSW |
18 |
43,685,242 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9252:Jakmip2
|
UTSW |
18 |
43,715,194 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9674:Jakmip2
|
UTSW |
18 |
43,704,961 (GRCm39) |
missense |
probably benign |
|
|
R9691:Jakmip2
|
UTSW |
18 |
43,673,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9788:Jakmip2
|
UTSW |
18 |
43,704,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Jakmip2
|
UTSW |
18 |
43,699,035 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Posted On |
2015-04-16 |
Incidental Mutation