Incidental Mutation 'R2830:Dmrt1'
| ID |
254261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrt1
|
| Ensembl Gene |
ENSMUSG00000024837 |
| Gene Name |
doublesex and mab-3 related transcription factor 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R2830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
25483070-25581692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25580658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 357
(S357P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025755]
[ENSMUST00000087525]
|
| AlphaFold |
Q9QZ59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025755
AA Change: S357P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: S357P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
68 |
N/A |
INTRINSIC |
|
DM
|
70 |
123 |
1.51e-25 |
SMART |
|
Pfam:Dmrt1
|
128 |
200 |
2.3e-37 |
PFAM |
|
low complexity region
|
219 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087525
|
| SMART Domains |
Protein: ENSMUSP00000084803
Gene: ENSMUSG00000024837
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
68 |
N/A |
INTRINSIC |
|
DM
|
70 |
123 |
1.51e-25 |
SMART |
|
Pfam:Dmrt1
|
128 |
185 |
1.2e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for null mutations are sterile and exhibit a complete loss of germ cells between postnatal days 7-14, disorganized seminiferous tubules, and degeneration of Leydig cells. Females are normal and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
A |
G |
14: 68,864,363 (GRCm39) |
V480A |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,618,935 (GRCm39) |
D1618G |
probably damaging |
Het |
| Cep250 |
G |
A |
2: 155,825,236 (GRCm39) |
D1037N |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,039,645 (GRCm39) |
|
probably null |
Het |
| Maip1 |
A |
G |
1: 57,454,822 (GRCm39) |
R269G |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,536,485 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,792,172 (GRCm39) |
*1398Q |
probably null |
Het |
| Tns3 |
C |
A |
11: 8,385,870 (GRCm39) |
C1376F |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dmrt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Dmrt1
|
APN |
19 |
25,580,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03167:Dmrt1
|
APN |
19 |
25,523,257 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0325:Dmrt1
|
UTSW |
19 |
25,523,371 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0410:Dmrt1
|
UTSW |
19 |
25,483,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Dmrt1
|
UTSW |
19 |
25,487,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4696:Dmrt1
|
UTSW |
19 |
25,580,674 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4869:Dmrt1
|
UTSW |
19 |
25,483,219 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R4870:Dmrt1
|
UTSW |
19 |
25,483,219 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R5477:Dmrt1
|
UTSW |
19 |
25,487,164 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5989:Dmrt1
|
UTSW |
19 |
25,523,245 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6490:Dmrt1
|
UTSW |
19 |
25,523,395 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6590:Dmrt1
|
UTSW |
19 |
25,523,449 (GRCm39) |
missense |
probably benign |
|
|
R6690:Dmrt1
|
UTSW |
19 |
25,523,449 (GRCm39) |
missense |
probably benign |
|
|
R7911:Dmrt1
|
UTSW |
19 |
25,580,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7920:Dmrt1
|
UTSW |
19 |
25,483,383 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7961:Dmrt1
|
UTSW |
19 |
25,523,245 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8009:Dmrt1
|
UTSW |
19 |
25,523,245 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9328:Dmrt1
|
UTSW |
19 |
25,523,231 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9448:Dmrt1
|
UTSW |
19 |
25,523,255 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9729:Dmrt1
|
UTSW |
19 |
25,523,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Dmrt1
|
UTSW |
19 |
25,523,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dmrt1
|
UTSW |
19 |
25,537,334 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGACTGGCCACTTTTAAACC -3'
(R):5'- TGAACCAAACTTCTGAATGGGC -3'
Sequencing Primer
(F):5'- TTTAAACCGGCCACCTTTAACG -3'
(R):5'- ACTTCTGAATGGGCAGCCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation