Incidental Mutation 'R5477:Dmrt1'
| ID |
434136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrt1
|
| Ensembl Gene |
ENSMUSG00000024837 |
| Gene Name |
doublesex and mab-3 related transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
25483070-25581692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25487164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 157
(M157V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025755]
[ENSMUST00000087525]
|
| AlphaFold |
Q9QZ59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025755
AA Change: M157V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: M157V
| 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
AA Change: M157V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000084803
Gene: ENSMUSG00000024837
AA Change: M157V
| 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
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
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 |
|
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'- AGAACTCTGCAGGTGAGTGTG -3'
(R):5'- TCTTGGGAAGCAGCCAAAG -3'
Sequencing Primer
(F):5'- CAGGTGAGTGTGCTCTGC -3'
(R):5'- GGAAACTCCTGATAAATTCACGTGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation