Incidental Mutation 'R4029:Dmrt2'
| ID |
313144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrt2
|
| Ensembl Gene |
ENSMUSG00000048138 |
| Gene Name |
doublesex and mab-3 related transcription factor 2 |
| Synonyms |
Terra |
| MMRRC Submission |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
25649775-25656355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 25655498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 366
(S366A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053068]
|
| AlphaFold |
Q8BG36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053068
AA Change: S366A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: S366A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
115 |
N/A |
INTRINSIC |
|
DM
|
119 |
172 |
5.2e-28 |
SMART |
|
low complexity region
|
224 |
229 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display perinatal lethality due to breathing difficulties, multiple axial skeletal defects including kinked tails and rib and vertebral malformations, and abnormal somite organization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
|
| Other mutations in Dmrt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02215:Dmrt2
|
APN |
19 |
25,655,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Dmrt2
|
APN |
19 |
25,655,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02740:Dmrt2
|
APN |
19 |
25,655,837 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0141:Dmrt2
|
UTSW |
19 |
25,655,655 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0294:Dmrt2
|
UTSW |
19 |
25,655,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0352:Dmrt2
|
UTSW |
19 |
25,656,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Dmrt2
|
UTSW |
19 |
25,653,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1016:Dmrt2
|
UTSW |
19 |
25,652,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1104:Dmrt2
|
UTSW |
19 |
25,655,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1164:Dmrt2
|
UTSW |
19 |
25,655,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1467:Dmrt2
|
UTSW |
19 |
25,650,970 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1467:Dmrt2
|
UTSW |
19 |
25,650,970 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3107:Dmrt2
|
UTSW |
19 |
25,655,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3109:Dmrt2
|
UTSW |
19 |
25,655,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4841:Dmrt2
|
UTSW |
19 |
25,655,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Dmrt2
|
UTSW |
19 |
25,650,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6335:Dmrt2
|
UTSW |
19 |
25,650,935 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6554:Dmrt2
|
UTSW |
19 |
25,655,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Dmrt2
|
UTSW |
19 |
25,655,706 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7414:Dmrt2
|
UTSW |
19 |
25,650,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7417:Dmrt2
|
UTSW |
19 |
25,655,962 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8420:Dmrt2
|
UTSW |
19 |
25,655,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Dmrt2
|
UTSW |
19 |
25,655,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8537:Dmrt2
|
UTSW |
19 |
25,651,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9018:Dmrt2
|
UTSW |
19 |
25,650,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9198:Dmrt2
|
UTSW |
19 |
25,655,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9218:Dmrt2
|
UTSW |
19 |
25,651,066 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
RF003:Dmrt2
|
UTSW |
19 |
25,655,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0058:Dmrt2
|
UTSW |
19 |
25,651,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0060:Dmrt2
|
UTSW |
19 |
25,651,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0063:Dmrt2
|
UTSW |
19 |
25,651,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Dmrt2
|
UTSW |
19 |
25,656,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dmrt2
|
UTSW |
19 |
25,655,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCACCATGCAGTATTCAGGG -3'
(R):5'- GGCAGTCCATATCAACAATGGG -3'
Sequencing Primer
(F):5'- ACCATGCAGTATTCAGGGTCTGG -3'
(R):5'- AGGCAGACCTCTCTGGAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation