Incidental Mutation 'R4345:Zmym5'
ID |
324308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmym5
|
Ensembl Gene |
ENSMUSG00000040123 |
Gene Name |
zinc finger, MYM-type 5 |
Synonyms |
9830124H08Rik |
MMRRC Submission |
041666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
R4345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57028042-57049173 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57034083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 376
(N376S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039812]
[ENSMUST00000111285]
[ENSMUST00000173954]
[ENSMUST00000225699]
|
AlphaFold |
Q3U2E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039812
AA Change: N376S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000043625 Gene: ENSMUSG00000040123 AA Change: N376S
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
TRASH
|
213 |
249 |
2.69e-5 |
SMART |
TRASH
|
306 |
341 |
1e3 |
SMART |
TRASH
|
348 |
385 |
3.32e-5 |
SMART |
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
ZnF_TTF
|
528 |
604 |
4.14e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111285
AA Change: N376S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000106916 Gene: ENSMUSG00000040123 AA Change: N376S
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
TRASH
|
213 |
249 |
2.69e-5 |
SMART |
TRASH
|
306 |
341 |
1e3 |
SMART |
TRASH
|
348 |
385 |
3.32e-5 |
SMART |
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
ZnF_TTF
|
528 |
604 |
4.14e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173954
AA Change: N376S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134057 Gene: ENSMUSG00000040123 AA Change: N376S
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
TRASH
|
213 |
249 |
2.69e-5 |
SMART |
TRASH
|
306 |
341 |
1e3 |
SMART |
TRASH
|
348 |
385 |
3.32e-5 |
SMART |
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
ZnF_TTF
|
528 |
604 |
4.14e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225699
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Zmym5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01933:Zmym5
|
APN |
14 |
57,041,617 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02028:Zmym5
|
APN |
14 |
57,041,617 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02535:Zmym5
|
APN |
14 |
57,035,123 (GRCm39) |
critical splice donor site |
probably null |
|
cerveza
|
UTSW |
14 |
57,031,918 (GRCm39) |
nonsense |
probably null |
|
Yeast
|
UTSW |
14 |
57,049,618 (GRCm39) |
unclassified |
probably benign |
|
R0391:Zmym5
|
UTSW |
14 |
57,041,908 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1692:Zmym5
|
UTSW |
14 |
57,041,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Zmym5
|
UTSW |
14 |
57,036,577 (GRCm39) |
missense |
probably damaging |
0.98 |
R1997:Zmym5
|
UTSW |
14 |
57,035,210 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3790:Zmym5
|
UTSW |
14 |
57,031,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R4027:Zmym5
|
UTSW |
14 |
57,035,268 (GRCm39) |
missense |
probably benign |
0.18 |
R4622:Zmym5
|
UTSW |
14 |
57,049,693 (GRCm39) |
unclassified |
probably benign |
|
R4686:Zmym5
|
UTSW |
14 |
57,049,618 (GRCm39) |
unclassified |
probably benign |
|
R5092:Zmym5
|
UTSW |
14 |
57,034,236 (GRCm39) |
missense |
probably benign |
0.27 |
R5344:Zmym5
|
UTSW |
14 |
57,031,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R6356:Zmym5
|
UTSW |
14 |
57,031,622 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7074:Zmym5
|
UTSW |
14 |
57,042,255 (GRCm39) |
missense |
probably benign |
|
R7358:Zmym5
|
UTSW |
14 |
57,031,597 (GRCm39) |
nonsense |
probably null |
|
R7657:Zmym5
|
UTSW |
14 |
57,041,653 (GRCm39) |
missense |
probably benign |
0.01 |
R7811:Zmym5
|
UTSW |
14 |
57,036,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8013:Zmym5
|
UTSW |
14 |
57,031,883 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8014:Zmym5
|
UTSW |
14 |
57,031,883 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8174:Zmym5
|
UTSW |
14 |
57,031,918 (GRCm39) |
nonsense |
probably null |
|
R9260:Zmym5
|
UTSW |
14 |
57,041,641 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Zmym5
|
UTSW |
14 |
57,035,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCATCTCAGGTTGTGCTC -3'
(R):5'- GTTCGCCATGAAATCAGTGTTAAC -3'
Sequencing Primer
(F):5'- ATCGCTAGGTACTTACATGCTGGC -3'
(R):5'- CTGCTGTGAACAGTGTAG -3'
|
Posted On |
2015-06-24 |