Incidental Mutation 'IGL01734:Jmy'
| ID |
105613 |
| 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 # |
IGL01734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93596159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 490
(L490R)
|
| 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: L490R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: L490R
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,747,858 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
| Chsy1 |
T |
C |
7: 65,821,058 (GRCm39) |
I431T |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,980 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
| Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
| Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
| Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
| Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,482,668 (GRCm39) |
M331L |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
| Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
| Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
| Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
| Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
| Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,620,836 (GRCm39) |
E494G |
probably damaging |
Het |
| Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
| Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,961,706 (GRCm39) |
|
probably null |
Het |
| Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
| Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
| Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,831,563 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation