Incidental Mutation 'IGL01140:Zmym1'
ID |
50973 |
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: 0.194)
|
Stock # |
IGL01140
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126940887-126954945 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126943435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 318
(F318L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055013]
[ENSMUST00000106099]
[ENSMUST00000106102]
[ENSMUST00000136186]
|
AlphaFold |
Q3TJB1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055013
AA Change: F318L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050669 Gene: ENSMUSG00000043872 AA Change: F318L
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 damaging
Transcript: ENSMUST00000106102
AA Change: F318L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101708 Gene: ENSMUSG00000043872 AA Change: F318L
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: ENSMUST00000140605
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152607
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
A |
G |
5: 90,672,726 (GRCm39) |
E187G |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,256,317 (GRCm39) |
V205A |
probably damaging |
Het |
Atg16l1 |
A |
G |
1: 87,702,575 (GRCm39) |
I279V |
probably benign |
Het |
Atp2b2 |
C |
T |
6: 113,766,932 (GRCm39) |
V436I |
possibly damaging |
Het |
Cald1 |
T |
A |
6: 34,739,196 (GRCm39) |
S640T |
possibly damaging |
Het |
Cdc23 |
A |
G |
18: 34,769,385 (GRCm39) |
Y460H |
probably benign |
Het |
Cenpk |
T |
A |
13: 104,372,742 (GRCm39) |
|
probably benign |
Het |
Ctss |
A |
G |
3: 95,446,036 (GRCm39) |
E52G |
probably damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,523 (GRCm39) |
C365S |
probably damaging |
Het |
Cyp2c55 |
T |
C |
19: 39,007,093 (GRCm39) |
L163P |
probably benign |
Het |
Cyp4f37 |
T |
C |
17: 32,848,027 (GRCm39) |
S182P |
probably benign |
Het |
Flt4 |
G |
T |
11: 49,525,770 (GRCm39) |
E740* |
probably null |
Het |
Galntl6 |
T |
A |
8: 58,411,356 (GRCm39) |
R291S |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,124,694 (GRCm39) |
V568I |
probably benign |
Het |
Ift70a1 |
A |
G |
2: 75,810,259 (GRCm39) |
V608A |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,220,705 (GRCm39) |
K145R |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,109,928 (GRCm39) |
V2183A |
probably benign |
Het |
Lrmda |
C |
T |
14: 22,646,585 (GRCm39) |
A75V |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,815,258 (GRCm39) |
E282G |
probably damaging |
Het |
Muc19 |
A |
T |
15: 91,783,593 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,859,693 (GRCm39) |
T1231A |
probably benign |
Het |
Nkpd1 |
A |
G |
7: 19,257,387 (GRCm39) |
T389A |
possibly damaging |
Het |
Nudt19 |
A |
G |
7: 35,247,336 (GRCm39) |
*358Q |
probably null |
Het |
Nup160 |
G |
T |
2: 90,530,909 (GRCm39) |
M522I |
possibly damaging |
Het |
Obsl1 |
T |
A |
1: 75,466,400 (GRCm39) |
|
probably benign |
Het |
Or4m1 |
T |
A |
14: 50,557,732 (GRCm39) |
I187F |
probably damaging |
Het |
Or5ak24 |
T |
C |
2: 85,260,484 (GRCm39) |
T230A |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,151 (GRCm39) |
T137I |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 115,005,070 (GRCm39) |
P341S |
probably benign |
Het |
Papola |
C |
A |
12: 105,775,856 (GRCm39) |
C7* |
probably null |
Het |
Pld1 |
C |
A |
3: 28,132,386 (GRCm39) |
L525I |
probably benign |
Het |
Prom2 |
T |
C |
2: 127,373,125 (GRCm39) |
|
probably benign |
Het |
Psmb5 |
G |
A |
14: 54,855,264 (GRCm39) |
T62I |
possibly damaging |
Het |
Sag |
A |
G |
1: 87,751,086 (GRCm39) |
E184G |
probably benign |
Het |
Slc16a10 |
T |
C |
10: 39,952,921 (GRCm39) |
Y191C |
probably damaging |
Het |
Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
Ssx2ip |
A |
G |
3: 146,133,598 (GRCm39) |
Y231C |
probably benign |
Het |
Trib1 |
A |
G |
15: 59,523,476 (GRCm39) |
Y170C |
probably damaging |
Het |
Trmt10a |
G |
A |
3: 137,862,459 (GRCm39) |
|
probably benign |
Het |
Troap |
G |
T |
15: 98,980,027 (GRCm39) |
Q402H |
probably damaging |
Het |
Vmn2r70 |
G |
A |
7: 85,214,379 (GRCm39) |
Q258* |
probably null |
Het |
Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
Zswim2 |
A |
G |
2: 83,745,672 (GRCm39) |
S589P |
probably benign |
Het |
|
Other mutations in Zmym1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-06-21 |