Incidental Mutation 'R1016:Dmrt2'
| ID |
96366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmrt2
|
| Ensembl Gene |
ENSMUSG00000048138 |
| Gene Name |
doublesex and mab-3 related transcription factor 2 |
| Synonyms |
Terra |
| MMRRC Submission |
039120-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
25649775-25656355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25652938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 183
(K183N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053068]
|
| AlphaFold |
Q8BG36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053068
AA Change: K183N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: K183N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188711
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.6%
- 20x: 84.3%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
A |
7: 19,710,227 (GRCm39) |
H6Q |
probably null |
Het |
| Clstn1 |
T |
C |
4: 149,731,286 (GRCm39) |
I866T |
probably benign |
Het |
| Cntnap1 |
T |
C |
11: 101,068,333 (GRCm39) |
V86A |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,844,769 (GRCm39) |
Y351* |
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2j12 |
C |
T |
4: 96,001,102 (GRCm39) |
|
probably null |
Het |
| Fancl |
G |
T |
11: 26,337,195 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
G |
A |
16: 36,789,539 (GRCm39) |
Q524* |
probably null |
Het |
| Flcn |
T |
C |
11: 59,686,691 (GRCm39) |
|
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,031 (GRCm39) |
C237* |
probably null |
Het |
| Hpf1 |
A |
G |
8: 61,348,678 (GRCm39) |
Y131C |
possibly damaging |
Het |
| Mdh1 |
A |
G |
11: 21,509,769 (GRCm39) |
L202P |
probably benign |
Het |
| Mpl |
T |
C |
4: 118,306,110 (GRCm39) |
Y310C |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,503,063 (GRCm39) |
V784A |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,242,786 (GRCm39) |
I159T |
possibly damaging |
Het |
| Nans |
T |
C |
4: 46,500,716 (GRCm39) |
Y203H |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,402,295 (GRCm39) |
C709Y |
probably damaging |
Het |
| Or8b36 |
T |
C |
9: 37,937,987 (GRCm39) |
V295A |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,660 (GRCm39) |
Y192C |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,832 (GRCm39) |
N118D |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,442 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,135 (GRCm39) |
T454A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,973 (GRCm39) |
L1021P |
probably damaging |
Het |
| Pvr |
T |
C |
7: 19,643,142 (GRCm39) |
I364V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,582 (GRCm39) |
I396M |
probably damaging |
Het |
| Sgcb |
A |
C |
5: 73,797,183 (GRCm39) |
H192Q |
probably benign |
Het |
| Slc4a9 |
C |
A |
18: 36,664,478 (GRCm39) |
H379N |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,715,729 (GRCm39) |
D22G |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,897,167 (GRCm39) |
V77A |
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,369,617 (GRCm39) |
E384G |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,754 (GRCm39) |
G209D |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTGAGATTAAGAGGCACTCCCG -3'
(R):5'- GGGTGTTCCAGGATCACTTGACAG -3'
Sequencing Primer
(F):5'- GAGGCACTCCCGTTAATTATTTTG -3'
(R):5'- TTTCACCAGGTGTAACAGCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation