Incidental Mutation 'IGL03024:Jmy'
| ID |
408078 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jmy
|
| Ensembl Gene |
ENSMUSG00000021690 |
| Gene Name |
junction-mediating and regulatory protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
IGL03024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93635707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 36
(N36K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065537]
[ENSMUST00000220513]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065537
AA Change: N36K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: N36K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WHAMM-JMY_N
|
5 |
55 |
6.2e-30 |
PFAM |
|
low complexity region
|
77 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
217 |
N/A |
INTRINSIC |
|
Pfam:JMY
|
220 |
574 |
2.2e-175 |
PFAM |
|
SCOP:d1jvr__
|
794 |
816 |
4e-3 |
SMART |
|
WH2
|
916 |
933 |
2.21e-2 |
SMART |
|
low complexity region
|
964 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220513
AA Change: N36K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,212,464 (GRCm39) |
F257L |
probably benign |
Het |
| Aaas |
A |
G |
15: 102,258,926 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,513 (GRCm39) |
R57W |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,746,597 (GRCm39) |
V72A |
probably damaging |
Het |
| Bcl3 |
A |
G |
7: 19,543,059 (GRCm39) |
|
probably benign |
Het |
| Blnk |
A |
T |
19: 40,982,445 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,621,089 (GRCm39) |
I230T |
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,227,576 (GRCm39) |
R485S |
possibly damaging |
Het |
| Cenpp |
C |
A |
13: 49,617,730 (GRCm39) |
A273S |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,868 (GRCm39) |
V2022A |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
C |
A |
2: 145,781,919 (GRCm39) |
|
probably benign |
Het |
| Col8a1 |
T |
A |
16: 57,448,727 (GRCm39) |
H261L |
unknown |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,527 (GRCm39) |
|
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,710,160 (GRCm39) |
L203Q |
probably damaging |
Het |
| Dusp6 |
A |
G |
10: 99,102,156 (GRCm39) |
T381A |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,686 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,581,523 (GRCm39) |
D192G |
probably benign |
Het |
| Gbp2 |
G |
T |
3: 142,337,780 (GRCm39) |
V299F |
probably damaging |
Het |
| Gfpt1 |
G |
T |
6: 87,030,813 (GRCm39) |
V66F |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,422,390 (GRCm39) |
|
probably benign |
Het |
| Irf8 |
T |
A |
8: 121,480,097 (GRCm39) |
S112T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,498,193 (GRCm39) |
I866T |
probably benign |
Het |
| Kif1c |
A |
T |
11: 70,596,015 (GRCm39) |
M210L |
probably damaging |
Het |
| Kng1 |
G |
A |
16: 22,893,442 (GRCm39) |
V272I |
possibly damaging |
Het |
| Lrig2 |
A |
C |
3: 104,401,389 (GRCm39) |
M166R |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,029,931 (GRCm39) |
L265P |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,581,377 (GRCm39) |
T547A |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,139,305 (GRCm39) |
C541R |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,862 (GRCm39) |
F15L |
possibly damaging |
Het |
| Nipal1 |
G |
T |
5: 72,820,968 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
T |
1: 62,810,893 (GRCm39) |
N645Y |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,676,858 (GRCm39) |
F107Y |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,935 (GRCm39) |
F197I |
possibly damaging |
Het |
| Or7d9 |
T |
A |
9: 20,197,280 (GRCm39) |
M103K |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,734,946 (GRCm39) |
S96T |
probably damaging |
Het |
| Prl2c1 |
A |
C |
13: 28,040,524 (GRCm39) |
D139A |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,754,055 (GRCm39) |
M43K |
possibly damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,646,315 (GRCm39) |
M1048L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,521,427 (GRCm39) |
E653G |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,664,567 (GRCm39) |
S689P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,460,455 (GRCm39) |
|
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,991,458 (GRCm39) |
I241T |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,706,189 (GRCm39) |
D380E |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,650,442 (GRCm39) |
V560A |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,003 (GRCm39) |
H154R |
possibly damaging |
Het |
| Tlk1 |
A |
T |
2: 70,576,380 (GRCm39) |
C247* |
probably null |
Het |
| Trim15 |
A |
G |
17: 37,177,785 (GRCm39) |
L70P |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,354,358 (GRCm39) |
L148P |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,232,538 (GRCm39) |
P627S |
probably benign |
Het |
|
| Other mutations in Jmy |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00798:Jmy
|
APN |
13 |
93,577,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00949:Jmy
|
APN |
13 |
93,590,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Jmy
|
APN |
13 |
93,577,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Jmy
|
APN |
13 |
93,596,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Jmy
|
APN |
13 |
93,596,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01985:Jmy
|
APN |
13 |
93,596,144 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02183:Jmy
|
APN |
13 |
93,635,750 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02517:Jmy
|
APN |
13 |
93,589,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02524:Jmy
|
APN |
13 |
93,609,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02697:Jmy
|
APN |
13 |
93,596,209 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Jmy
|
UTSW |
13 |
93,578,126 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0242:Jmy
|
UTSW |
13 |
93,578,126 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0623:Jmy
|
UTSW |
13 |
93,589,325 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0623:Jmy
|
UTSW |
13 |
93,589,325 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0722:Jmy
|
UTSW |
13 |
93,589,325 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1533:Jmy
|
UTSW |
13 |
93,577,819 (GRCm39) |
missense |
probably benign |
|
|
R1667:Jmy
|
UTSW |
13 |
93,634,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Jmy
|
UTSW |
13 |
93,635,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1815:Jmy
|
UTSW |
13 |
93,590,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Jmy
|
UTSW |
13 |
93,596,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Jmy
|
UTSW |
13 |
93,590,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Jmy
|
UTSW |
13 |
93,601,219 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4231:Jmy
|
UTSW |
13 |
93,635,433 (GRCm39) |
missense |
probably benign |
|
|
R4279:Jmy
|
UTSW |
13 |
93,635,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Jmy
|
UTSW |
13 |
93,635,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4330:Jmy
|
UTSW |
13 |
93,635,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4330:Jmy
|
UTSW |
13 |
93,635,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Jmy
|
UTSW |
13 |
93,576,246 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5047:Jmy
|
UTSW |
13 |
93,578,080 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5403:Jmy
|
UTSW |
13 |
93,577,904 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5941:Jmy
|
UTSW |
13 |
93,635,333 (GRCm39) |
missense |
probably benign |
|
|
R5953:Jmy
|
UTSW |
13 |
93,635,624 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6022:Jmy
|
UTSW |
13 |
93,590,086 (GRCm39) |
splice site |
probably null |
|
|
R6150:Jmy
|
UTSW |
13 |
93,577,641 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6520:Jmy
|
UTSW |
13 |
93,590,547 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7073:Jmy
|
UTSW |
13 |
93,577,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7074:Jmy
|
UTSW |
13 |
93,590,439 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7325:Jmy
|
UTSW |
13 |
93,609,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7575:Jmy
|
UTSW |
13 |
93,601,103 (GRCm39) |
nonsense |
probably null |
|
|
R7641:Jmy
|
UTSW |
13 |
93,579,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Jmy
|
UTSW |
13 |
93,579,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Jmy
|
UTSW |
13 |
93,635,703 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8278:Jmy
|
UTSW |
13 |
93,601,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Jmy
|
UTSW |
13 |
93,634,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Jmy
|
UTSW |
13 |
93,589,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Jmy
|
UTSW |
13 |
93,635,580 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9196:Jmy
|
UTSW |
13 |
93,601,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Jmy
|
UTSW |
13 |
93,589,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9402:Jmy
|
UTSW |
13 |
93,635,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Jmy
|
UTSW |
13 |
93,577,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation