Incidental Mutation 'IGL02697:Jmy'
| ID |
303977 |
| 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 # |
IGL02697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 93596209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 473
(Y473*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065537]
[ENSMUST00000220513]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065537
AA Change: Y473*
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: Y473*
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
| Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
| H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
| Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
| Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
| Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
| Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
| Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
| Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
| Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
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 |
|
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 |
2015-04-16 |
Incidental Mutation