Incidental Mutation 'R7540:Zmym1'
| ID |
583832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmym1
|
| Ensembl Gene |
ENSMUSG00000043872 |
| Gene Name |
zinc finger, MYM domain containing 1 |
| Synonyms |
5830412B09Rik |
| MMRRC Submission |
045612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R7540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126940887-126954945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126942550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 613
(C613S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055013]
[ENSMUST00000106099]
[ENSMUST00000106102]
|
| AlphaFold |
Q3TJB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055013
AA Change: C613S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: C613S
| 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
AA Change: C515S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: C515S
| 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: C613S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: C613S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,870,360 (GRCm39) |
E650G |
probably damaging |
Het |
| Adgrg7 |
G |
A |
16: 56,570,792 (GRCm39) |
T412M |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,781,808 (GRCm39) |
V7I |
possibly damaging |
Het |
| Bpifb1 |
G |
A |
2: 154,055,031 (GRCm39) |
V308M |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,513,220 (GRCm39) |
S1476P |
probably benign |
Het |
| Dgkb |
A |
T |
12: 38,031,789 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,359,655 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
G |
A |
9: 69,667,141 (GRCm39) |
Q130* |
probably null |
Het |
| Gemin5 |
C |
T |
11: 58,021,228 (GRCm39) |
|
probably null |
Het |
| Ghr |
T |
A |
15: 3,349,396 (GRCm39) |
D594V |
possibly damaging |
Het |
| Gm10272 |
A |
C |
10: 77,542,460 (GRCm39) |
M1L |
unknown |
Het |
| Gpr161 |
G |
A |
1: 165,146,404 (GRCm39) |
V447M |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,268,751 (GRCm39) |
S2157T |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,265,723 (GRCm39) |
V831A |
not run |
Het |
| Itga8 |
T |
A |
2: 12,115,848 (GRCm39) |
I1014L |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,213,536 (GRCm39) |
S321R |
possibly damaging |
Het |
| Kctd19 |
G |
T |
8: 106,113,567 (GRCm39) |
P702Q |
probably benign |
Het |
| Man2c1 |
G |
A |
9: 57,047,559 (GRCm39) |
D739N |
probably damaging |
Het |
| Mboat4 |
T |
A |
8: 34,591,178 (GRCm39) |
L205Q |
probably damaging |
Het |
| Meis3 |
C |
A |
7: 15,911,418 (GRCm39) |
Y38* |
probably null |
Het |
| Mroh7 |
G |
T |
4: 106,577,595 (GRCm39) |
T361K |
possibly damaging |
Het |
| Msantd5f2 |
C |
T |
4: 73,586,648 (GRCm39) |
|
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,332,149 (GRCm39) |
K106* |
probably null |
Het |
| Naaa |
T |
A |
5: 92,411,583 (GRCm39) |
T241S |
probably benign |
Het |
| Neurog3 |
T |
G |
10: 61,969,756 (GRCm39) |
I172S |
probably benign |
Het |
| Nub1 |
T |
G |
5: 24,906,527 (GRCm39) |
I351R |
probably damaging |
Het |
| Or2t47 |
C |
A |
11: 58,442,457 (GRCm39) |
V203L |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,414 (GRCm39) |
R145W |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,003 (GRCm39) |
F63Y |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,944 (GRCm39) |
K18E |
probably damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,008,543 (GRCm39) |
W7R |
probably benign |
Het |
| Pcsk7 |
G |
T |
9: 45,838,971 (GRCm39) |
|
probably null |
Het |
| Plin4 |
G |
A |
17: 56,411,883 (GRCm39) |
T716I |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,167,357 (GRCm39) |
V356I |
probably damaging |
Het |
| Pus7 |
G |
A |
5: 23,965,244 (GRCm39) |
T304I |
probably damaging |
Het |
| Rmnd1 |
A |
G |
10: 4,353,989 (GRCm39) |
V402A |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,181,346 (GRCm39) |
E329G |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,949,346 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,561,776 (GRCm39) |
I1087V |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,153,572 (GRCm39) |
T162A |
|
Het |
| Tti1 |
G |
A |
2: 157,849,916 (GRCm39) |
T441I |
probably benign |
Het |
| Tubgcp6 |
G |
T |
15: 88,986,526 (GRCm39) |
Q1366K |
possibly damaging |
Het |
| Ush1g |
T |
C |
11: 115,209,399 (GRCm39) |
K265R |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,674 (GRCm39) |
V209A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,922 (GRCm39) |
Y157* |
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,414,695 (GRCm39) |
C1208S |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,450 (GRCm39) |
V1342E |
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 |
|
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 |
|
|
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'- TGGTAACCATGGCCAACAG -3'
(R):5'- ATCAAAGCTTACCTGCAGCAG -3'
Sequencing Primer
(F):5'- ATGGCCAACAGGTCCTCCAG -3'
(R):5'- CCTGCAGCAGGTTGGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation