Incidental Mutation 'R4845:Jmy'
| ID |
372122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmy
|
| Ensembl Gene |
ENSMUSG00000021690 |
| Gene Name |
junction-mediating and regulatory protein |
| Synonyms |
|
| MMRRC Submission |
042458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R4845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93576246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 886
(M886L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065537]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065537
AA Change: M886L
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: M886L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,333,057 (GRCm39) |
S600F |
possibly damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,885,998 (GRCm39) |
N393I |
probably damaging |
Het |
| Atp5pf |
T |
A |
16: 84,628,365 (GRCm39) |
I6F |
possibly damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,517 (GRCm39) |
L337S |
probably benign |
Het |
| C8b |
G |
T |
4: 104,649,009 (GRCm39) |
V308F |
possibly damaging |
Het |
| Cables1 |
A |
G |
18: 12,077,545 (GRCm39) |
R558G |
probably damaging |
Het |
| Chmp2b |
T |
A |
16: 65,347,862 (GRCm39) |
Q38L |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,531,031 (GRCm39) |
I773K |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,899,448 (GRCm39) |
T2A |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,170,772 (GRCm39) |
D812N |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,832,692 (GRCm39) |
D3901E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,232,208 (GRCm39) |
V3445A |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,096,908 (GRCm39) |
I230N |
possibly damaging |
Het |
| Exoc6b |
G |
T |
6: 84,812,119 (GRCm39) |
D627E |
probably benign |
Het |
| Exosc1 |
T |
C |
19: 41,919,797 (GRCm39) |
K74E |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,315,024 (GRCm39) |
T53A |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,533,912 (GRCm39) |
R17H |
probably damaging |
Het |
| Faxc |
G |
T |
4: 21,993,358 (GRCm39) |
W334L |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,246,833 (GRCm39) |
I94T |
probably damaging |
Het |
| Ifi203 |
A |
T |
1: 173,754,595 (GRCm39) |
M298K |
probably benign |
Het |
| Igkv4-78 |
A |
T |
6: 69,037,207 (GRCm39) |
M1K |
probably null |
Het |
| Iqcm |
G |
T |
8: 76,472,980 (GRCm39) |
R273I |
probably damaging |
Het |
| Itga1 |
G |
T |
13: 115,110,708 (GRCm39) |
S961* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,339,585 (GRCm39) |
T1109A |
possibly damaging |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Mettl14 |
T |
A |
3: 123,165,004 (GRCm39) |
E112V |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Musk |
A |
G |
4: 58,296,679 (GRCm39) |
D93G |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,475,034 (GRCm39) |
T195M |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,404,208 (GRCm39) |
D893G |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,339,902 (GRCm39) |
V908M |
probably benign |
Het |
| Or4a79 |
T |
C |
2: 89,552,120 (GRCm39) |
I112V |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,588,570 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,836 (GRCm39) |
L29* |
probably null |
Het |
| Orc4 |
T |
C |
2: 48,799,478 (GRCm39) |
N333S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
G |
A |
18: 37,489,771 (GRCm39) |
G483D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,729,132 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
A |
T |
6: 57,499,753 (GRCm39) |
Y174* |
probably null |
Het |
| Ptprq |
A |
T |
10: 107,489,393 (GRCm39) |
S911T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,419,451 (GRCm39) |
A554S |
probably benign |
Het |
| Sema3f |
T |
C |
9: 107,562,700 (GRCm39) |
Y427C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,146 (GRCm39) |
I573F |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,060,601 (GRCm39) |
Y201F |
probably damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,733,803 (GRCm38) |
H71L |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,905,148 (GRCm39) |
D305E |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tab1 |
C |
T |
15: 80,036,964 (GRCm39) |
R217W |
probably damaging |
Het |
| Taf6 |
T |
A |
5: 138,180,909 (GRCm39) |
Y224F |
possibly damaging |
Het |
| Tmc5 |
C |
G |
7: 118,241,604 (GRCm39) |
F432L |
probably damaging |
Het |
| Trbc1 |
A |
T |
6: 41,516,169 (GRCm39) |
|
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,879 (GRCm39) |
N65S |
probably benign |
Het |
| Trim15 |
G |
A |
17: 37,177,875 (GRCm39) |
P40L |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,466,916 (GRCm39) |
S197P |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,158 (GRCm39) |
Q286L |
probably benign |
Het |
| Wnt9a |
A |
G |
11: 59,222,067 (GRCm39) |
I322V |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,724,672 (GRCm39) |
E128G |
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 |
|
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 |
93,635,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4330:Jmy
|
UTSW |
13 |
93,635,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCGGTATCAGGCAGAAG -3'
(R):5'- ATGGGAGTACATGGGGTGAT -3'
Sequencing Primer
(F):5'- GCAGAAGTGTGAAGGATTCTCTC -3'
(R):5'- GAACCTGGAGCTTACCGTTTCAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation