Incidental Mutation 'R1374:Zmym1'
| ID |
157432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym1
|
| Ensembl Gene |
ENSMUSG00000043872 |
| Gene Name |
zinc finger, MYM domain containing 1 |
| Synonyms |
5830412B09Rik |
| MMRRC Submission |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126940887-126954945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126943404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 230
(K230I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055013]
[ENSMUST00000106099]
[ENSMUST00000106102]
[ENSMUST00000136186]
|
| AlphaFold |
Q3TJB1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055013
AA Change: K328I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: K328I
| 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: K230I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: K230I
| 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: K328I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: K328I
| 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 |
probably benign
Transcript: ENSMUST00000136186
|
| SMART Domains |
Protein: ENSMUSP00000120772
Gene: ENSMUSG00000043872
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-FCS
|
6 |
46 |
1.5e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140605
|
| Meta Mutation Damage Score |
0.1641 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
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 |
|
IGL02392:Zmym1
|
APN |
4 |
126,942,256 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACACGGAAAGCTGTCTCTCAG -3'
(R):5'- TGTTGGTAATAGTGCGGACCAGCC -3'
Sequencing Primer
(F):5'- TGCTGCTATAGAAGTCCACG -3'
(R):5'- TGCTCTGTGAGGACACAGC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation