Incidental Mutation 'IGL01926:Jmy'
| ID |
180314 |
| 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: 0.157)
|
| Stock # |
IGL01926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93596294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 445
(V445E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070339
(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: V445E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: V445E
| 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 benign
Transcript: ENSMUST00000220513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223458
|
| 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 |
|---|
| Abca9 |
C |
T |
11: 110,026,155 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,164,612 (GRCm39) |
V671M |
possibly damaging |
Het |
| Atf7ip2 |
G |
T |
16: 10,059,749 (GRCm39) |
D430Y |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,501,797 (GRCm39) |
D740E |
probably damaging |
Het |
| Bbs1 |
A |
C |
19: 4,952,891 (GRCm39) |
S191A |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,777,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,791,099 (GRCm39) |
I244T |
probably benign |
Het |
| Dsg1a |
G |
T |
18: 20,466,641 (GRCm39) |
D504Y |
possibly damaging |
Het |
| Eif3a |
T |
C |
19: 60,758,399 (GRCm39) |
D793G |
unknown |
Het |
| Exoc4 |
C |
A |
6: 33,839,077 (GRCm39) |
D704E |
probably damaging |
Het |
| Fmo5 |
A |
C |
3: 97,544,797 (GRCm39) |
T109P |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,439,935 (GRCm39) |
I179V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Irs1 |
G |
T |
1: 82,267,680 (GRCm39) |
R179S |
probably damaging |
Het |
| Jup |
C |
A |
11: 100,274,412 (GRCm39) |
V93F |
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,328,652 (GRCm39) |
Y91C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,013,063 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,965,752 (GRCm39) |
T1188I |
possibly damaging |
Het |
| Myt1 |
T |
C |
2: 181,463,790 (GRCm39) |
L1032P |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,436,704 (GRCm39) |
N606K |
probably damaging |
Het |
| Nfrkb |
A |
T |
9: 31,325,475 (GRCm39) |
M973L |
probably benign |
Het |
| Or5aq6 |
C |
T |
2: 86,923,318 (GRCm39) |
C141Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,480,105 (GRCm39) |
T133S |
possibly damaging |
Het |
| Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,471,642 (GRCm39) |
M131K |
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,133,484 (GRCm39) |
S207T |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,314,306 (GRCm39) |
M1K |
probably null |
Het |
| Prr15 |
A |
G |
6: 54,306,490 (GRCm39) |
K83E |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,504,123 (GRCm39) |
N5S |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,357,485 (GRCm39) |
H169L |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,910,823 (GRCm39) |
I85V |
probably benign |
Het |
| Tmc2 |
T |
C |
2: 130,102,160 (GRCm39) |
I775T |
possibly damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,046,873 (GRCm39) |
F141L |
probably benign |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,994,248 (GRCm39) |
V636D |
possibly damaging |
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 |
|
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 |
|
|
IGL03024:Jmy
|
APN |
13 |
93,635,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation