Incidental Mutation 'R4027:Zmym1'
| ID |
313022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym1
|
| Ensembl Gene |
ENSMUSG00000043872 |
| Gene Name |
zinc finger, MYM domain containing 1 |
| Synonyms |
5830412B09Rik |
| MMRRC Submission |
040850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R4027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126940887-126954945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126943672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 239
(V239I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055013]
[ENSMUST00000106099]
[ENSMUST00000106102]
[ENSMUST00000136186]
|
| AlphaFold |
Q3TJB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055013
AA Change: V239I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: V239I
| 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 benign
Transcript: ENSMUST00000106099
|
| SMART Domains |
Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
| 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 benign
Transcript: ENSMUST00000106102
AA Change: V239I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: V239I
| 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 |
0.0637 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
A |
G |
2: 35,270,408 (GRCm39) |
F98L |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,973,409 (GRCm39) |
N531S |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,476 (GRCm39) |
S906P |
possibly damaging |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Ano10 |
A |
G |
9: 122,081,994 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,424,377 (GRCm39) |
|
probably null |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
| Carmil1 |
T |
A |
13: 24,251,206 (GRCm39) |
|
probably benign |
Het |
| Ccl2 |
A |
G |
11: 81,927,885 (GRCm39) |
R110G |
probably benign |
Het |
| Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
| Cog6 |
A |
C |
3: 52,909,950 (GRCm39) |
D267E |
possibly damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,850,646 (GRCm39) |
E366D |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dpep1 |
T |
C |
8: 123,920,892 (GRCm39) |
V24A |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,353,232 (GRCm39) |
I48V |
probably benign |
Het |
| Elmo2 |
G |
A |
2: 165,136,169 (GRCm39) |
Q195* |
probably null |
Het |
| Ephb3 |
A |
G |
16: 21,040,447 (GRCm39) |
D561G |
probably damaging |
Het |
| Erich2 |
C |
A |
2: 70,343,134 (GRCm39) |
|
probably benign |
Het |
| Gatm |
A |
G |
2: 122,427,927 (GRCm39) |
V362A |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,572 (GRCm39) |
M360V |
probably damaging |
Het |
| Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,849,219 (GRCm39) |
|
probably null |
Het |
| Insrr |
A |
G |
3: 87,716,906 (GRCm39) |
E682G |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,740,438 (GRCm39) |
I742V |
possibly damaging |
Het |
| Kcnh1 |
T |
C |
1: 191,959,007 (GRCm39) |
V187A |
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,297,094 (GRCm39) |
S419R |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,747,990 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,277,019 (GRCm39) |
|
probably benign |
Het |
| Lct |
G |
A |
1: 128,212,918 (GRCm39) |
R1912C |
probably benign |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,240,552 (GRCm39) |
L279P |
probably damaging |
Het |
| Mfsd4b3-ps |
T |
C |
10: 39,823,343 (GRCm39) |
T306A |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,721,758 (GRCm39) |
F101I |
probably damaging |
Het |
| Mlc1 |
T |
C |
15: 88,850,697 (GRCm39) |
I154V |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,892,311 (GRCm39) |
I1685T |
possibly damaging |
Het |
| Nacc2 |
T |
A |
2: 25,950,348 (GRCm39) |
M463L |
probably benign |
Het |
| Nek11 |
A |
C |
9: 105,121,589 (GRCm39) |
Y443* |
probably null |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nova1 |
A |
G |
12: 46,863,801 (GRCm39) |
|
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,354 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,709 (GRCm39) |
S3P |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,109,666 (GRCm39) |
D400G |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
| Prmt6 |
A |
G |
3: 110,157,257 (GRCm39) |
I344T |
probably damaging |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Ranbp17 |
C |
T |
11: 33,450,718 (GRCm39) |
R73Q |
possibly damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,143,077 (GRCm39) |
A735S |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,215,713 (GRCm39) |
T237A |
probably benign |
Het |
| Vmn1r74 |
C |
A |
7: 11,580,898 (GRCm39) |
T66K |
probably damaging |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Zmym5 |
T |
A |
14: 57,035,268 (GRCm39) |
T267S |
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 |
|
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 |
|
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 |
|
|
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'- CCGGAGGCTCTGTCTTAATG -3'
(R):5'- CTCTGCTGTTATATACCTAGAGCTC -3'
Sequencing Primer
(F):5'- AGGCTCTGTCTTAATGTTCTGTTC -3'
(R):5'- GAGCTCCTTTAAACACTGAATGCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation