Incidental Mutation 'R3765:Jmy'
| ID |
274672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmy
|
| Ensembl Gene |
ENSMUSG00000021690 |
| Gene Name |
junction-mediating and regulatory protein |
| Synonyms |
|
| MMRRC Submission |
040742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R3765 (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 C
at 93601219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 396
(M396V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152402
(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: M396V
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: M396V
| 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 |
possibly damaging
Transcript: ENSMUST00000220513
AA Change: M396V
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223458
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
| Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,216,780 (GRCm39) |
T92S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
| Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,143 (GRCm39) |
N354S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
| Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
| Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
| Polr1c |
C |
T |
17: 46,558,850 (GRCm39) |
V14M |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,504 (GRCm39) |
E413G |
probably benign |
Het |
| Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Taf1c |
G |
T |
8: 120,327,224 (GRCm39) |
Y418* |
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTATGGCATACACAGACG -3'
(R):5'- GGACAGATTCCTATGTTAGAAGTCTTC -3'
Sequencing Primer
(F):5'- TGGCATACACAGACGCTTTG -3'
(R):5'- TCCTATGTTAGAAGTCTTCAGTACTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation