Incidental Mutation 'R7641:Jmy'
ID |
590260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jmy
|
Ensembl Gene |
ENSMUSG00000021690 |
Gene Name |
junction-mediating and regulatory protein |
Synonyms |
|
MMRRC Submission |
045699-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R7641 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
93566609-93636316 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93579107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 675
(R675Q)
|
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: R675Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070339 Gene: ENSMUSG00000021690 AA Change: R675Q
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
A |
5: 121,657,370 (GRCm39) |
Q641L |
probably benign |
Het |
Aknad1 |
A |
T |
3: 108,679,291 (GRCm39) |
H474L |
probably benign |
Het |
Alkal1 |
A |
T |
1: 6,459,712 (GRCm39) |
Y96F |
probably damaging |
Het |
Cars1 |
A |
G |
7: 143,140,840 (GRCm39) |
|
probably null |
Het |
Chtf18 |
A |
T |
17: 25,941,249 (GRCm39) |
|
probably null |
Het |
Cog2 |
C |
A |
8: 125,264,621 (GRCm39) |
N333K |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,758,625 (GRCm39) |
R2194* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,535,098 (GRCm39) |
I2355L |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,151,697 (GRCm39) |
|
probably null |
Het |
Dpy19l3 |
A |
C |
7: 35,394,734 (GRCm39) |
D601E |
probably damaging |
Het |
Elf1 |
G |
A |
14: 79,808,163 (GRCm39) |
G205E |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,817,256 (GRCm39) |
K4330* |
probably null |
Het |
Gm6525 |
A |
T |
3: 84,082,150 (GRCm39) |
T24S |
probably benign |
Het |
Golga4 |
G |
T |
9: 118,386,643 (GRCm39) |
R1255L |
probably benign |
Het |
Gpn2 |
A |
T |
4: 133,315,970 (GRCm39) |
Q243L |
probably null |
Het |
Grb10 |
T |
C |
11: 11,883,492 (GRCm39) |
K588E |
possibly damaging |
Het |
Gys1 |
T |
C |
7: 45,104,495 (GRCm39) |
S641P |
probably damaging |
Het |
H2-M5 |
T |
A |
17: 37,298,323 (GRCm39) |
M331L |
probably benign |
Het |
Ighv6-6 |
T |
A |
12: 114,398,837 (GRCm39) |
I10L |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,392,386 (GRCm39) |
Q484L |
probably benign |
Het |
Map3k20 |
T |
A |
2: 72,228,705 (GRCm39) |
L308H |
probably damaging |
Het |
Mep1b |
T |
C |
18: 21,228,034 (GRCm39) |
F546L |
possibly damaging |
Het |
Mier1 |
A |
G |
4: 102,996,637 (GRCm39) |
E133G |
possibly damaging |
Het |
Msh3 |
C |
A |
13: 92,349,011 (GRCm39) |
V1074L |
probably benign |
Het |
Muc6 |
A |
T |
7: 141,224,247 (GRCm39) |
L1645Q |
unknown |
Het |
Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
Pdyn |
A |
T |
2: 129,531,748 (GRCm39) |
V14E |
possibly damaging |
Het |
Prdm16 |
T |
A |
4: 154,429,901 (GRCm39) |
H356L |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,634,961 (GRCm39) |
C453R |
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,914 (GRCm39) |
S30N |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,016,393 (GRCm39) |
S315P |
probably damaging |
Het |
Rusc2 |
C |
T |
4: 43,425,335 (GRCm39) |
R1147W |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,440,320 (GRCm39) |
Y789N |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,786,676 (GRCm39) |
L289P |
probably damaging |
Het |
Septin3 |
A |
G |
15: 82,174,983 (GRCm39) |
Y308C |
probably damaging |
Het |
Slc2a12 |
A |
G |
10: 22,569,893 (GRCm39) |
D528G |
probably damaging |
Het |
Slc2a13 |
A |
G |
15: 91,156,359 (GRCm39) |
*638Q |
probably null |
Het |
Smchd1 |
T |
A |
17: 71,697,474 (GRCm39) |
E1155D |
probably benign |
Het |
Sorcs2 |
G |
A |
5: 36,555,296 (GRCm39) |
R32C |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Tonsl |
C |
T |
15: 76,517,852 (GRCm39) |
D650N |
probably damaging |
Het |
Tti1 |
A |
T |
2: 157,850,949 (GRCm39) |
F97I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,572,554 (GRCm39) |
Q26113R |
possibly damaging |
Het |
Unc5d |
A |
T |
8: 29,210,003 (GRCm39) |
N444K |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,510,654 (GRCm39) |
K420* |
probably null |
Het |
Vmn2r114 |
T |
C |
17: 23,527,177 (GRCm39) |
N452D |
possibly damaging |
Het |
Vps16 |
T |
C |
2: 130,282,448 (GRCm39) |
V427A |
probably benign |
Het |
Wdr5b |
T |
A |
16: 35,862,712 (GRCm39) |
V277D |
probably damaging |
Het |
Zan |
T |
A |
5: 137,465,370 (GRCm39) |
M462L |
possibly damaging |
Het |
Zfp40 |
A |
G |
17: 23,397,257 (GRCm39) |
V80A |
possibly damaging |
Het |
Zfp930 |
A |
T |
8: 69,681,337 (GRCm39) |
H344L |
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 |
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 |
|
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'- ATATACTCAGGAGGTGGTGCTC -3'
(R):5'- TGACCACCGTGAACTTATTGG -3'
Sequencing Primer
(F):5'- TCCAAGGGCAAAGAATATTACTGCTG -3'
(R):5'- GCATTGTCAAAGATTTTGTTCAGTG -3'
|
Posted On |
2019-10-24 |