Incidental Mutation 'IGL01985:Jmy'
ID |
181870 |
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 # |
IGL01985
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93596144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 495
(H495R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065537]
[ENSMUST00000220513]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065537
AA Change: H495R
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000070339 Gene: ENSMUSG00000021690 AA Change: H495R
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
G |
A |
4: 144,442,024 (GRCm39) |
Q76* |
probably null |
Het |
Cass4 |
A |
C |
2: 172,269,126 (GRCm39) |
S403R |
probably damaging |
Het |
Ccdc175 |
A |
T |
12: 72,175,052 (GRCm39) |
Y540* |
probably null |
Het |
Cep164 |
C |
T |
9: 45,690,904 (GRCm39) |
E1266K |
probably damaging |
Het |
Clec12b |
T |
A |
6: 129,359,334 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,814,482 (GRCm39) |
K510R |
unknown |
Het |
Crisp4 |
G |
A |
1: 18,204,289 (GRCm39) |
P101S |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,884,074 (GRCm39) |
L614P |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,603,303 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,911,614 (GRCm39) |
F589L |
probably benign |
Het |
Dvl2 |
T |
A |
11: 69,899,119 (GRCm39) |
V459E |
probably damaging |
Het |
E2f6 |
T |
C |
12: 16,869,064 (GRCm39) |
|
probably null |
Het |
Exph5 |
T |
C |
9: 53,287,869 (GRCm39) |
L1650P |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,535,324 (GRCm39) |
Y691C |
probably damaging |
Het |
Fshb |
T |
C |
2: 106,889,173 (GRCm39) |
T44A |
probably benign |
Het |
Gm28044 |
T |
A |
13: 67,495,958 (GRCm39) |
K28* |
probably null |
Het |
Il12b |
G |
A |
11: 44,298,881 (GRCm39) |
W112* |
probably null |
Het |
Ino80 |
T |
C |
2: 119,263,802 (GRCm39) |
T621A |
probably damaging |
Het |
Irx5 |
T |
A |
8: 93,086,155 (GRCm39) |
|
probably benign |
Het |
Kif21a |
A |
T |
15: 90,875,970 (GRCm39) |
V321D |
probably damaging |
Het |
Lrrc10 |
T |
A |
10: 116,881,921 (GRCm39) |
D198E |
probably damaging |
Het |
Lrsam1 |
T |
C |
2: 32,818,103 (GRCm39) |
E651G |
probably benign |
Het |
Mtarc1 |
A |
G |
1: 184,519,931 (GRCm39) |
V230A |
probably damaging |
Het |
Mylk4 |
T |
A |
13: 32,901,564 (GRCm39) |
I475L |
possibly damaging |
Het |
Myom3 |
G |
A |
4: 135,493,013 (GRCm39) |
|
probably null |
Het |
Or5ac19 |
A |
T |
16: 59,089,442 (GRCm39) |
V196E |
probably benign |
Het |
Pah |
G |
A |
10: 87,414,844 (GRCm39) |
V399M |
probably damaging |
Het |
Pik3r4 |
G |
A |
9: 105,540,244 (GRCm39) |
E711K |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,570,296 (GRCm39) |
K38E |
probably damaging |
Het |
Ror1 |
G |
A |
4: 100,283,161 (GRCm39) |
V409M |
possibly damaging |
Het |
Slc6a11 |
T |
A |
6: 114,111,853 (GRCm39) |
V140D |
probably benign |
Het |
Srebf2 |
G |
T |
15: 82,076,560 (GRCm39) |
A737S |
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,663,721 (GRCm39) |
T303A |
unknown |
Het |
Tmem74 |
A |
T |
15: 43,730,476 (GRCm39) |
I189N |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,746,607 (GRCm39) |
D1242G |
possibly damaging |
Het |
U2surp |
A |
T |
9: 95,372,279 (GRCm39) |
F293L |
probably damaging |
Het |
Uchl5 |
G |
A |
1: 143,661,864 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,402,565 (GRCm39) |
C2472S |
probably damaging |
Het |
Usp42 |
G |
A |
5: 143,700,940 (GRCm39) |
R1028W |
probably damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,154,125 (GRCm39) |
S60P |
probably benign |
Het |
Vmn2r31 |
G |
T |
7: 7,397,510 (GRCm39) |
D249E |
probably benign |
Het |
Vnn1 |
C |
T |
10: 23,776,642 (GRCm39) |
T331I |
probably benign |
Het |
Zmym6 |
G |
T |
4: 126,994,541 (GRCm39) |
V232F |
probably 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 |
IGL01926:Jmy
|
APN |
13 |
93,596,294 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |