Incidental Mutation 'R3891:Dmrta1'
| ID |
310382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrta1
|
| Ensembl Gene |
ENSMUSG00000043753 |
| Gene Name |
doublesex and mab-3 related transcription factor like family A1 |
| Synonyms |
Dmrt4 |
| MMRRC Submission |
040803-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
89576435-89583003 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89579831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 264
(I264F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052478]
|
| AlphaFold |
Q8CFG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052478
AA Change: I264F
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057488
Gene: ENSMUSG00000043753
AA Change: I264F
| 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
|
| Meta Mutation Damage Score |
0.1146 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
| C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
| Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
| Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
| Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
| Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
| Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
| Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
| Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
| Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
| Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
| Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
| Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
| Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,350 (GRCm39) |
D24G |
unknown |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
| Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
| Stard10 |
G |
A |
7: 100,993,137 (GRCm39) |
R231Q |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
| Vwa1 |
T |
C |
4: 155,857,651 (GRCm39) |
E49G |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGGACATAACTATGTTGTGGC -3'
(R):5'- GATCCTGGTAAGAATTCCGAGAG -3'
Sequencing Primer
(F):5'- ACTATGTTGTGGCAAATTTTTATGTC -3'
(R):5'- AGAGGGTCTCGTGGTCTTGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation