Incidental Mutation 'IGL02392:Zmym1'
| ID |
294279 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zmym1
|
| Ensembl Gene |
ENSMUSG00000043872 |
| Gene Name |
zinc finger, MYM domain containing 1 |
| Synonyms |
5830412B09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
IGL02392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126940887-126954945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126942256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 711
(S711C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055013]
[ENSMUST00000106099]
[ENSMUST00000106102]
|
| AlphaFold |
Q3TJB1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055013
AA Change: S711C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: S711C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
2.4e-8 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
1.6e-10 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
335 |
569 |
4.9e-55 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
870 |
959 |
5.1e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106099
AA Change: S613C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: S613C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
3.3e-9 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
4.6e-10 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
237 |
471 |
2.8e-52 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
772 |
861 |
5.3e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106102
AA Change: S711C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: S711C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
7.8e-9 |
PFAM |
|
Pfam:zf-FCS
|
53 |
96 |
1.1e-9 |
PFAM |
|
low complexity region
|
155 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
243 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
335 |
569 |
7.4e-52 |
PFAM |
|
Pfam:Dimer_Tnp_hAT
|
870 |
959 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124429
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152607
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,133,997 (GRCm39) |
N8S |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,757,387 (GRCm39) |
T737M |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,711,920 (GRCm39) |
|
probably benign |
Het |
| Cenph |
T |
A |
13: 100,909,269 (GRCm39) |
Q46L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,277 (GRCm39) |
C1395R |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,037,025 (GRCm39) |
|
probably benign |
Het |
| Dolk |
T |
C |
2: 30,175,740 (GRCm39) |
N102D |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Farp2 |
G |
A |
1: 93,505,372 (GRCm39) |
R368Q |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,996,183 (GRCm39) |
M4K |
probably benign |
Het |
| Fndc8 |
A |
C |
11: 82,789,429 (GRCm39) |
T196P |
probably damaging |
Het |
| Galc |
G |
A |
12: 98,173,672 (GRCm39) |
T630I |
probably damaging |
Het |
| Gm21970 |
T |
G |
16: 91,211,545 (GRCm39) |
S128A |
possibly damaging |
Het |
| Gpr146 |
T |
C |
5: 139,378,533 (GRCm39) |
S112P |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,764,276 (GRCm39) |
S51P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,031,280 (GRCm39) |
T43N |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,799,445 (GRCm39) |
Y70C |
possibly damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mtdh |
A |
T |
15: 34,099,723 (GRCm39) |
N158Y |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,833,094 (GRCm39) |
H550Q |
possibly damaging |
Het |
| Or2h1b |
C |
T |
17: 37,461,979 (GRCm39) |
V295I |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,710 (GRCm39) |
F68L |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,655,952 (GRCm39) |
Q260* |
probably null |
Het |
| Pex6 |
T |
C |
17: 47,034,425 (GRCm39) |
V758A |
probably damaging |
Het |
| Qsox1 |
T |
C |
1: 155,688,346 (GRCm39) |
E67G |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,848,861 (GRCm39) |
S895N |
probably benign |
Het |
| Rnls |
A |
G |
19: 33,180,012 (GRCm39) |
V28A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,707,494 (GRCm39) |
*934W |
probably null |
Het |
| Spta1 |
A |
T |
1: 174,046,380 (GRCm39) |
M1654L |
probably damaging |
Het |
| Srbd1 |
C |
A |
17: 86,295,801 (GRCm39) |
V870F |
probably benign |
Het |
| Suco |
A |
T |
1: 161,662,136 (GRCm39) |
M765K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,440,178 (GRCm39) |
Y610H |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,141 (GRCm39) |
N238S |
probably benign |
Het |
| Them7 |
T |
A |
2: 105,209,220 (GRCm39) |
L180* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,621 (GRCm39) |
I285V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,887 (GRCm39) |
S10265P |
probably damaging |
Het |
| Vgll3 |
A |
T |
16: 65,612,556 (GRCm39) |
Y13F |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,061,731 (GRCm39) |
M544K |
unknown |
Het |
| Ypel1 |
T |
C |
16: 16,906,702 (GRCm39) |
T500A |
probably benign |
Het |
|
| Other mutations in Zmym1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Zmym1
|
APN |
4 |
126,943,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Zmym1
|
APN |
4 |
126,941,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02431:Zmym1
|
APN |
4 |
126,941,557 (GRCm39) |
nonsense |
probably null |
|
|
IGL02512:Zmym1
|
APN |
4 |
126,942,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03303:Zmym1
|
APN |
4 |
126,942,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Zmym1
|
UTSW |
4 |
126,944,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
BB019:Zmym1
|
UTSW |
4 |
126,944,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0195:Zmym1
|
UTSW |
4 |
126,941,704 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0266:Zmym1
|
UTSW |
4 |
126,941,818 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0416:Zmym1
|
UTSW |
4 |
126,952,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1374:Zmym1
|
UTSW |
4 |
126,943,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Zmym1
|
UTSW |
4 |
126,942,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1704:Zmym1
|
UTSW |
4 |
126,942,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1806:Zmym1
|
UTSW |
4 |
126,941,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Zmym1
|
UTSW |
4 |
126,942,814 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2124:Zmym1
|
UTSW |
4 |
126,943,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2169:Zmym1
|
UTSW |
4 |
126,947,996 (GRCm39) |
splice site |
probably null |
|
|
R4027:Zmym1
|
UTSW |
4 |
126,943,672 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4410:Zmym1
|
UTSW |
4 |
126,941,897 (GRCm39) |
nonsense |
probably null |
|
|
R4572:Zmym1
|
UTSW |
4 |
126,944,628 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4788:Zmym1
|
UTSW |
4 |
126,948,090 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5120:Zmym1
|
UTSW |
4 |
126,945,230 (GRCm39) |
splice site |
probably null |
|
|
R5130:Zmym1
|
UTSW |
4 |
126,942,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5615:Zmym1
|
UTSW |
4 |
126,943,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Zmym1
|
UTSW |
4 |
126,941,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Zmym1
|
UTSW |
4 |
126,943,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7464:Zmym1
|
UTSW |
4 |
126,952,728 (GRCm39) |
nonsense |
probably null |
|
|
R7540:Zmym1
|
UTSW |
4 |
126,942,550 (GRCm39) |
missense |
probably benign |
|
|
R7779:Zmym1
|
UTSW |
4 |
126,948,038 (GRCm39) |
missense |
probably benign |
|
|
R7807:Zmym1
|
UTSW |
4 |
126,941,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Zmym1
|
UTSW |
4 |
126,941,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7932:Zmym1
|
UTSW |
4 |
126,944,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8183:Zmym1
|
UTSW |
4 |
126,952,649 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8276:Zmym1
|
UTSW |
4 |
126,948,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8744:Zmym1
|
UTSW |
4 |
126,945,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Zmym1
|
UTSW |
4 |
126,943,664 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9199:Zmym1
|
UTSW |
4 |
126,944,623 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9385:Zmym1
|
UTSW |
4 |
126,952,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Zmym1
|
UTSW |
4 |
126,943,466 (GRCm39) |
missense |
probably benign |
0.05 |
|
T0722:Zmym1
|
UTSW |
4 |
126,942,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0722:Zmym1
|
UTSW |
4 |
126,941,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Zmym1
|
UTSW |
4 |
126,943,466 (GRCm39) |
missense |
probably benign |
0.05 |
|
T0975:Zmym1
|
UTSW |
4 |
126,942,043 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0975:Zmym1
|
UTSW |
4 |
126,941,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation