Incidental Mutation 'R8416:Jmy'
| ID |
652962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmy
|
| Ensembl Gene |
ENSMUSG00000021690 |
| Gene Name |
junction-mediating and regulatory protein |
| Synonyms |
|
| MMRRC Submission |
067770-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R8416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93634949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 289
(D289G)
|
| 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: D289G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: D289G
| 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 damaging
Transcript: ENSMUST00000220513
AA Change: D289G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,369,023 (GRCm39) |
N173S |
probably benign |
Het |
| Agps |
A |
G |
2: 75,684,547 (GRCm39) |
I172V |
probably benign |
Het |
| Amz1 |
G |
A |
5: 140,737,731 (GRCm39) |
W330* |
probably null |
Het |
| Asap1 |
A |
T |
15: 64,002,072 (GRCm39) |
M413K |
possibly damaging |
Het |
| Bhmt1b |
T |
C |
18: 87,774,687 (GRCm39) |
V70A |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,885,513 (GRCm39) |
W291R |
unknown |
Het |
| Cdh19 |
A |
T |
1: 110,853,610 (GRCm39) |
M277K |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,460,914 (GRCm39) |
|
probably null |
Het |
| Cnpy1 |
T |
C |
5: 28,408,423 (GRCm39) |
T138A |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,300,295 (GRCm39) |
D23G |
|
Het |
| Cxcr5 |
A |
T |
9: 44,425,583 (GRCm39) |
F25I |
probably benign |
Het |
| Defb33 |
T |
A |
8: 21,387,651 (GRCm39) |
*63R |
probably null |
Het |
| Dgkz |
A |
T |
2: 91,770,649 (GRCm39) |
S485T |
possibly damaging |
Het |
| Elac1 |
A |
G |
18: 73,871,927 (GRCm39) |
I356T |
probably damaging |
Het |
| Fam135a |
C |
T |
1: 24,067,675 (GRCm39) |
D1065N |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,058,942 (GRCm39) |
D265V |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,331 (GRCm39) |
E223G |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,068,334 (GRCm39) |
D49E |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Irf2 |
A |
T |
8: 47,271,887 (GRCm39) |
Y158F |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Limch1 |
T |
G |
5: 67,156,649 (GRCm39) |
I372S |
probably benign |
Het |
| Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
| Mboat2 |
G |
A |
12: 24,984,609 (GRCm39) |
E147K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,852,210 (GRCm39) |
I439V |
probably benign |
Het |
| Npc2 |
A |
G |
12: 84,812,131 (GRCm39) |
V37A |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,778 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or5b119 |
A |
T |
19: 13,456,764 (GRCm39) |
M266K |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,825,271 (GRCm39) |
|
probably null |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,178 (GRCm39) |
N341Y |
probably damaging |
Het |
| Pde1b |
G |
A |
15: 103,423,745 (GRCm39) |
|
probably benign |
Het |
| Pde1c |
C |
T |
6: 56,128,276 (GRCm39) |
|
probably null |
Het |
| Plce1 |
G |
A |
19: 38,761,441 (GRCm39) |
V2098I |
possibly damaging |
Het |
| Pou2f2 |
G |
T |
7: 24,815,551 (GRCm39) |
S72* |
probably null |
Het |
| Ptpru |
C |
T |
4: 131,535,783 (GRCm39) |
R398H |
probably damaging |
Het |
| Rps15 |
A |
G |
10: 80,128,624 (GRCm39) |
K7E |
probably benign |
Het |
| Rtn4rl2 |
C |
T |
2: 84,702,951 (GRCm39) |
G207D |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,511,345 (GRCm39) |
L130F |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,868,256 (GRCm39) |
R403W |
probably damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,858 (GRCm39) |
K92R |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,399,062 (GRCm39) |
E142D |
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,813,229 (GRCm39) |
I505T |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,269,580 (GRCm39) |
I216K |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,897,997 (GRCm39) |
M44K |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,876,068 (GRCm39) |
V607E |
probably benign |
Het |
| Tiparp |
A |
G |
3: 65,438,767 (GRCm39) |
R28G |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,540,116 (GRCm39) |
V1498I |
probably benign |
Het |
| Tmprss11c |
T |
G |
5: 86,387,276 (GRCm39) |
Q214P |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Wdr11 |
G |
A |
7: 129,232,403 (GRCm39) |
S937N |
possibly damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,927 (GRCm39) |
I282K |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,693,052 (GRCm39) |
M37T |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,940,556 (GRCm39) |
S142G |
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 |
|
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 |
|
R8278:Jmy
|
UTSW |
13 |
93,601,224 (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'- TGAAAACTAGGACCGCTGC -3'
(R):5'- TCGAGGTCCTGGAAATGGTG -3'
Sequencing Primer
(F):5'- CGCTGAGGCTTTCGTAAT -3'
(R):5'- AGTCTCCGGCCGAAGAATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation