Incidental Mutation 'R5989:Dmrt1'
| ID |
481909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrt1
|
| Ensembl Gene |
ENSMUSG00000024837 |
| Gene Name |
doublesex and mab-3 related transcription factor 1 |
| Synonyms |
|
| MMRRC Submission |
044169-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R5989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
25483070-25581692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25523245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 199
(S199T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025755]
[ENSMUST00000087525]
|
| AlphaFold |
Q9QZ59 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025755
AA Change: S199T
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: S199T
| 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 |
0.1712 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
| Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
| Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
| Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
| Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
| Ipcef1 |
A |
T |
10: 6,929,532 (GRCm39) |
Y69* |
probably null |
Het |
| Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
| Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
| Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
| Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
| Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
| Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
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 |
|
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'- CTGTAGAAGGCAAGATCTGTGG -3'
(R):5'- TTTCCAGTCTGAGCAGGCAC -3'
Sequencing Primer
(F):5'- GATCTGTGGACCGCCTACATTAAATC -3'
(R):5'- TAAGGTGCTGGGAGACTCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation