Incidental Mutation 'R8278:Jmy'
| ID |
638080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmy
|
| Ensembl Gene |
ENSMUSG00000021690 |
| Gene Name |
junction-mediating and regulatory protein |
| Synonyms |
|
| MMRRC Submission |
067701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R8278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93601224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 394
(I394N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065537]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065537
AA Change: I394N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: I394N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,668,040 (GRCm39) |
Q477L |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,330,857 (GRCm39) |
D40V |
probably damaging |
Het |
| Cab39l |
T |
C |
14: 59,776,562 (GRCm39) |
Y248H |
probably damaging |
Het |
| Casr |
G |
T |
16: 36,336,011 (GRCm39) |
D99E |
probably damaging |
Het |
| Cdh16 |
T |
C |
8: 105,345,107 (GRCm39) |
E364G |
probably benign |
Het |
| Cep104 |
C |
T |
4: 154,068,122 (GRCm39) |
T189I |
possibly damaging |
Het |
| Cfap418 |
T |
A |
4: 10,882,474 (GRCm39) |
|
probably null |
Het |
| Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
| Chit1 |
G |
A |
1: 134,078,332 (GRCm39) |
R380Q |
probably benign |
Het |
| Cpne2 |
A |
G |
8: 95,281,316 (GRCm39) |
K174R |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,310 (GRCm39) |
I1121N |
probably damaging |
Het |
| Fgf6 |
A |
T |
6: 126,992,781 (GRCm39) |
Y78F |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,429,832 (GRCm39) |
N320K |
probably benign |
Het |
| Heatr3 |
A |
T |
8: 88,883,361 (GRCm39) |
N398I |
possibly damaging |
Het |
| Hrh4 |
T |
C |
18: 13,140,284 (GRCm39) |
S60P |
probably damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,190 (GRCm39) |
H278R |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,022,107 (GRCm39) |
E314G |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,766,324 (GRCm39) |
C164S |
probably damaging |
Het |
| Loxl3 |
G |
T |
6: 83,025,697 (GRCm39) |
G352C |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,928,432 (GRCm39) |
F1232S |
probably benign |
Het |
| Mpnd |
A |
G |
17: 56,319,469 (GRCm39) |
T311A |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,444,025 (GRCm39) |
D132E |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,593,740 (GRCm39) |
S316P |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,955,509 (GRCm39) |
S348G |
probably damaging |
Het |
| Nyap1 |
C |
T |
5: 137,730,077 (GRCm39) |
R790H |
probably damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,958 (GRCm39) |
T161I |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,094,736 (GRCm39) |
V507I |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,375,995 (GRCm39) |
H1380R |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,529,430 (GRCm39) |
V763I |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,680,263 (GRCm39) |
V416L |
probably damaging |
Het |
| Prkn |
A |
T |
17: 12,269,609 (GRCm39) |
N421Y |
probably benign |
Het |
| Prpf4 |
T |
C |
4: 62,333,493 (GRCm39) |
|
probably null |
Het |
| Psmb5 |
C |
T |
14: 54,855,342 (GRCm39) |
G36D |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,239 (GRCm39) |
S571P |
possibly damaging |
Het |
| Rap1gap |
A |
C |
4: 137,444,748 (GRCm39) |
S254R |
probably damaging |
Het |
| Rufy2 |
A |
T |
10: 62,843,472 (GRCm39) |
D492V |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,610,392 (GRCm39) |
E4145* |
probably null |
Het |
| Sgsm1 |
A |
G |
5: 113,407,958 (GRCm39) |
F898L |
probably damaging |
Het |
| Slc26a9 |
C |
A |
1: 131,689,514 (GRCm39) |
A487D |
possibly damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,229,890 (GRCm39) |
|
probably null |
Het |
| Smad9 |
A |
T |
3: 54,696,687 (GRCm39) |
T251S |
probably benign |
Het |
| Socs3 |
A |
T |
11: 117,858,478 (GRCm39) |
C193* |
probably null |
Het |
| Sox6 |
T |
A |
7: 115,076,199 (GRCm39) |
D813V |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,929,361 (GRCm39) |
L65* |
probably null |
Het |
| Taf6 |
G |
A |
5: 138,178,097 (GRCm39) |
A468V |
probably benign |
Het |
| Tmem71 |
T |
C |
15: 66,426,961 (GRCm39) |
D78G |
probably damaging |
Het |
| Tob2 |
T |
C |
15: 81,735,288 (GRCm39) |
N227S |
probably benign |
Het |
| Trim34a |
C |
A |
7: 103,898,623 (GRCm39) |
Q180K |
probably damaging |
Het |
| Ugt1a9 |
T |
C |
1: 87,999,378 (GRCm39) |
L276P |
possibly damaging |
Het |
| Wdr33 |
G |
A |
18: 31,960,405 (GRCm39) |
R23Q |
possibly damaging |
Het |
| Wnt7b |
T |
G |
15: 85,427,887 (GRCm39) |
N189H |
|
Het |
| Zfp609 |
G |
A |
9: 65,604,804 (GRCm39) |
A1308V |
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 |
|
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 |
|
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 |
|
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'- TGCCTGAGTCTTAAAGCTTACC -3'
(R):5'- CTCAGAAATGACCAAATGCTGTG -3'
Sequencing Primer
(F):5'- GAGTCTTAAAGCTTACCTTTCTGAGC -3'
(R):5'- CCAAATGCTGTGTATTTATTTAGCGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation