Incidental Mutation 'IGL02154:Dmrta1'
| ID |
282160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dmrta1
|
| Ensembl Gene |
ENSMUSG00000043753 |
| Gene Name |
doublesex and mab-3 related transcription factor like family A1 |
| Synonyms |
Dmrt4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
89576435-89583003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89580150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 370
(N370S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052478]
|
| AlphaFold |
Q8CFG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052478
AA Change: N370S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: N370S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
37 |
N/A |
INTRINSIC |
|
DM
|
82 |
135 |
2.31e-30 |
SMART |
|
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
|
Pfam:DMA
|
314 |
350 |
3.3e-21 |
PFAM |
|
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131576
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile; however, females exhibit polyovular ovarian follicles while 25% of males display abnormal copulatory behavior toward other males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
| AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
| Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,989 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
| Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
| Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
| Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
| Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
| Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
| Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
| Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
| Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
| Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
Het |
|
| Other mutations in Dmrta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02572:Dmrta1
|
APN |
4 |
89,579,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02875:Dmrta1
|
APN |
4 |
89,579,985 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02883:Dmrta1
|
APN |
4 |
89,577,011 (GRCm39) |
missense |
probably benign |
|
|
R0097:Dmrta1
|
UTSW |
4 |
89,577,109 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0097:Dmrta1
|
UTSW |
4 |
89,577,109 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0394:Dmrta1
|
UTSW |
4 |
89,580,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Dmrta1
|
UTSW |
4 |
89,579,742 (GRCm39) |
missense |
probably benign |
|
|
R2132:Dmrta1
|
UTSW |
4 |
89,576,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Dmrta1
|
UTSW |
4 |
89,576,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Dmrta1
|
UTSW |
4 |
89,579,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3694:Dmrta1
|
UTSW |
4 |
89,580,415 (GRCm39) |
nonsense |
probably null |
|
|
R3695:Dmrta1
|
UTSW |
4 |
89,580,415 (GRCm39) |
nonsense |
probably null |
|
|
R3891:Dmrta1
|
UTSW |
4 |
89,579,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3892:Dmrta1
|
UTSW |
4 |
89,579,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3929:Dmrta1
|
UTSW |
4 |
89,579,681 (GRCm39) |
nonsense |
probably null |
|
|
R4620:Dmrta1
|
UTSW |
4 |
89,577,021 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4927:Dmrta1
|
UTSW |
4 |
89,579,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Dmrta1
|
UTSW |
4 |
89,576,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5312:Dmrta1
|
UTSW |
4 |
89,580,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5437:Dmrta1
|
UTSW |
4 |
89,579,993 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5637:Dmrta1
|
UTSW |
4 |
89,577,068 (GRCm39) |
missense |
probably benign |
|
|
R6185:Dmrta1
|
UTSW |
4 |
89,580,005 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6906:Dmrta1
|
UTSW |
4 |
89,580,203 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7156:Dmrta1
|
UTSW |
4 |
89,576,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7201:Dmrta1
|
UTSW |
4 |
89,580,408 (GRCm39) |
nonsense |
probably null |
|
|
R7755:Dmrta1
|
UTSW |
4 |
89,580,170 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7862:Dmrta1
|
UTSW |
4 |
89,576,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7880:Dmrta1
|
UTSW |
4 |
89,577,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8714:Dmrta1
|
UTSW |
4 |
89,579,682 (GRCm39) |
missense |
probably benign |
|
|
R8841:Dmrta1
|
UTSW |
4 |
89,579,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9028:Dmrta1
|
UTSW |
4 |
89,579,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Dmrta1
|
UTSW |
4 |
89,576,691 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1177:Dmrta1
|
UTSW |
4 |
89,576,645 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Dmrta1
|
UTSW |
4 |
89,576,735 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation