Incidental Mutation 'IGL00519:Dmrt1'
ID |
5677 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00519
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
25483070-25581692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25580638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 350
(L350P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025755]
[ENSMUST00000087525]
|
AlphaFold |
Q9QZ59 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025755
AA Change: L350P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025755 Gene: ENSMUSG00000024837 AA Change: L350P
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 |
silent
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 |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,022,562 (GRCm39) |
N309K |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,982,791 (GRCm39) |
P846S |
probably damaging |
Het |
Atg10 |
A |
G |
13: 91,302,330 (GRCm39) |
|
probably benign |
Het |
Cdk18 |
C |
A |
1: 132,043,226 (GRCm39) |
R433L |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,037 (GRCm39) |
Y979H |
probably damaging |
Het |
Cracr2b |
T |
C |
7: 141,045,670 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,377,266 (GRCm39) |
F2049L |
probably benign |
Het |
Cubn |
T |
C |
2: 13,287,730 (GRCm39) |
N3450D |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,444,364 (GRCm39) |
D4054V |
probably benign |
Het |
Dpp8 |
A |
T |
9: 64,985,290 (GRCm39) |
T783S |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,663,670 (GRCm39) |
T564A |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,966,435 (GRCm39) |
K180E |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,697,578 (GRCm39) |
F301L |
probably benign |
Het |
Fbxo7 |
A |
T |
10: 85,864,928 (GRCm39) |
E77V |
probably damaging |
Het |
Gabpa |
T |
G |
16: 84,657,489 (GRCm39) |
*455G |
probably null |
Het |
Hexim2 |
A |
T |
11: 103,024,905 (GRCm39) |
M1L |
probably benign |
Het |
Lrrc24 |
T |
A |
15: 76,602,263 (GRCm39) |
N164I |
probably damaging |
Het |
Lrrc8b |
G |
A |
5: 105,629,591 (GRCm39) |
A646T |
possibly damaging |
Het |
Mansc1 |
T |
A |
6: 134,587,769 (GRCm39) |
Q136L |
possibly damaging |
Het |
Mlxip |
T |
A |
5: 123,585,268 (GRCm39) |
V592E |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,161,988 (GRCm39) |
T429A |
unknown |
Het |
Tbcd |
A |
G |
11: 121,466,147 (GRCm39) |
N591S |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,454,345 (GRCm39) |
|
probably benign |
Het |
Uri1 |
A |
G |
7: 37,660,978 (GRCm39) |
S522P |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,176,865 (GRCm39) |
S1343L |
probably benign |
Het |
|
Other mutations in Dmrt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2830:Dmrt1
|
UTSW |
19 |
25,580,658 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2012-04-20 |