Incidental Mutation 'R6590:Dmrt1'
| ID |
524723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrt1
|
| Ensembl Gene |
ENSMUSG00000024837 |
| Gene Name |
doublesex and mab-3 related transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
044714-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R6590 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
25483070-25581692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25523449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 267
(T267A)
|
| 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: T267A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: T267A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160814
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (28/28) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,115,062 (GRCm39) |
G628D |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,986,945 (GRCm39) |
G2743V |
probably benign |
Het |
| Akr1c14 |
A |
T |
13: 4,113,713 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,904,700 (GRCm39) |
T113A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,406,290 (GRCm39) |
L1414Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,464,694 (GRCm39) |
E658G |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,356,606 (GRCm39) |
T105A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,368,971 (GRCm39) |
I232T |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,802,071 (GRCm39) |
A387E |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,037,688 (GRCm39) |
G3780D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,910,824 (GRCm39) |
L1998* |
probably null |
Het |
| Iqcf6 |
C |
T |
9: 106,504,501 (GRCm39) |
T55I |
possibly damaging |
Het |
| Mterf3 |
G |
A |
13: 67,065,110 (GRCm39) |
L264F |
probably damaging |
Het |
| Or10k2 |
G |
T |
8: 84,267,904 (GRCm39) |
V44L |
probably benign |
Het |
| Or8g32 |
A |
G |
9: 39,305,845 (GRCm39) |
I253V |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,886,050 (GRCm39) |
I407F |
probably benign |
Het |
| Pip4k2b |
T |
C |
11: 97,620,393 (GRCm39) |
D114G |
probably damaging |
Het |
| Plbd1 |
G |
T |
6: 136,612,598 (GRCm39) |
N198K |
probably damaging |
Het |
| Prkcb |
T |
C |
7: 121,888,737 (GRCm39) |
I57T |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,769,558 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
G |
17: 28,863,629 (GRCm39) |
I710T |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,449,375 (GRCm39) |
I179L |
probably benign |
Het |
| Tmub2 |
C |
T |
11: 102,178,345 (GRCm39) |
H83Y |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,851,710 (GRCm39) |
D785Y |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,890,975 (GRCm39) |
T194A |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,890 (GRCm39) |
D174G |
probably damaging |
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 |
|
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 |
|
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'- GCATATGGAGAACACATCTGACC -3'
(R):5'- AGCCCATCTTTGCTGACATTAAC -3'
Sequencing Primer
(F):5'- TGGAGAACACATCTGACCTGGTATC -3'
(R):5'- TGCTGACATTAACAGATAGATAGGCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation