Incidental Mutation 'IGL02883:Dmrta1'
| ID |
362875 |
| 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 # |
IGL02883
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
89576435-89583003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89577011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 156
(S156P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052478]
|
| AlphaFold |
Q8CFG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052478
AA Change: S156P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: S156P
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,972 (GRCm39) |
S186R |
possibly damaging |
Het |
| Acap2 |
A |
G |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,599,506 (GRCm39) |
R1726S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,944,946 (GRCm39) |
S133G |
probably damaging |
Het |
| Cep295nl |
A |
T |
11: 118,224,735 (GRCm39) |
S36R |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,013 (GRCm39) |
N190S |
possibly damaging |
Het |
| Crtam |
A |
G |
9: 40,905,797 (GRCm39) |
V44A |
probably benign |
Het |
| Crtc1 |
C |
T |
8: 70,858,775 (GRCm39) |
G112S |
probably benign |
Het |
| Cyp17a1 |
T |
C |
19: 46,657,790 (GRCm39) |
N254S |
probably benign |
Het |
| Eno2 |
A |
C |
6: 124,743,172 (GRCm39) |
V188G |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,565,953 (GRCm39) |
I427N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,444 (GRCm39) |
K3933E |
probably benign |
Het |
| Igkv8-30 |
T |
C |
6: 70,094,601 (GRCm39) |
M1V |
probably null |
Het |
| Ist1 |
G |
A |
8: 110,410,300 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,661,690 (GRCm39) |
E765G |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,235,449 (GRCm39) |
L92S |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,339,855 (GRCm39) |
V58I |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,261,513 (GRCm39) |
V1489E |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,352,720 (GRCm39) |
I1956N |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,763,199 (GRCm39) |
V5100I |
probably benign |
Het |
| Mkrn2os |
C |
A |
6: 115,563,670 (GRCm39) |
G122* |
probably null |
Het |
| Nme3 |
T |
C |
17: 25,115,880 (GRCm39) |
Y78H |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,179 (GRCm39) |
S488P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppp2r5c |
T |
G |
12: 110,488,997 (GRCm39) |
V56G |
possibly damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,418 (GRCm39) |
T229A |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,238,644 (GRCm39) |
V179M |
probably damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,895,430 (GRCm39) |
V344A |
probably damaging |
Het |
| Selp |
G |
A |
1: 163,957,671 (GRCm39) |
A267T |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,129,192 (GRCm39) |
W718R |
probably damaging |
Het |
| Taar9 |
T |
C |
10: 23,985,378 (GRCm39) |
N19D |
probably benign |
Het |
| Tas2r113 |
T |
G |
6: 132,870,382 (GRCm39) |
S137A |
probably damaging |
Het |
| Traf4 |
A |
T |
11: 78,052,447 (GRCm39) |
I66N |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,849 (GRCm39) |
T164S |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,216,696 (GRCm39) |
N96K |
probably benign |
Het |
| Uqcc1 |
T |
A |
2: 155,753,749 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Vmn1r128 |
A |
G |
7: 21,083,440 (GRCm39) |
K48R |
probably benign |
Het |
|
| Other mutations in Dmrta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02154:Dmrta1
|
APN |
4 |
89,580,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation