Incidental Mutation 'IGL02269:Dmrt2'
| ID |
287048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dmrt2
|
| Ensembl Gene |
ENSMUSG00000048138 |
| Gene Name |
doublesex and mab-3 related transcription factor 2 |
| Synonyms |
Terra |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
25649775-25656355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25655823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 474
(V474A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053068]
|
| AlphaFold |
Q8BG36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053068
AA Change: V474A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: V474A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,425 (GRCm39) |
V59A |
unknown |
Het |
| A2ml1 |
C |
A |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,252,659 (GRCm39) |
R263H |
probably benign |
Het |
| B3galt5 |
A |
G |
16: 96,116,730 (GRCm39) |
D121G |
possibly damaging |
Het |
| Becn1 |
A |
G |
11: 101,182,361 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,339,393 (GRCm39) |
L150* |
probably null |
Het |
| Cep170 |
A |
T |
1: 176,596,932 (GRCm39) |
M475K |
probably benign |
Het |
| Cyp24a1 |
C |
T |
2: 170,338,492 (GRCm39) |
G68D |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,742,547 (GRCm39) |
I18N |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,646,691 (GRCm39) |
D64G |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,554,568 (GRCm39) |
S223P |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,360 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,315,032 (GRCm39) |
Y50C |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,826,873 (GRCm39) |
S4360A |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,835 (GRCm39) |
V230E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,609,045 (GRCm39) |
M971T |
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,185 (GRCm39) |
|
noncoding transcript |
Het |
| Hyal6 |
C |
T |
6: 24,740,858 (GRCm39) |
T337I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,464,357 (GRCm39) |
V1650M |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,579 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,089 (GRCm39) |
I76N |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,024 (GRCm39) |
I297N |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,232 (GRCm39) |
D173V |
possibly damaging |
Het |
| Pcdh7 |
A |
C |
5: 58,070,664 (GRCm39) |
E1114A |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,958,550 (GRCm39) |
|
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,731 (GRCm39) |
S628C |
probably damaging |
Het |
| Pear1 |
C |
T |
3: 87,663,571 (GRCm39) |
G376S |
probably damaging |
Het |
| Plekha6 |
C |
T |
1: 133,215,587 (GRCm39) |
T644M |
possibly damaging |
Het |
| Plpp1 |
T |
A |
13: 112,993,526 (GRCm39) |
C153S |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,197,510 (GRCm39) |
T793M |
possibly damaging |
Het |
| Rdh13 |
A |
T |
7: 4,448,497 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Rimbp2 |
G |
T |
5: 128,851,359 (GRCm39) |
D862E |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,694 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
A |
G |
3: 89,088,041 (GRCm39) |
T178A |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,628 (GRCm39) |
V853A |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,071,911 (GRCm39) |
T1197M |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,755,259 (GRCm39) |
F275L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,473,029 (GRCm39) |
I905F |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,866,438 (GRCm39) |
S119T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
| Tmem45b |
G |
T |
9: 31,339,279 (GRCm39) |
C145* |
probably null |
Het |
| Unc5c |
G |
A |
3: 141,494,743 (GRCm39) |
R352H |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,343 (GRCm39) |
L623P |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,947 (GRCm39) |
M779V |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,393 (GRCm39) |
N902S |
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 |
|
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 |
|
R4029:Dmrt2
|
UTSW |
19 |
25,655,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation