Incidental Mutation 'R8420:Dmrt2'
ID |
653173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmrt2
|
Ensembl Gene |
ENSMUSG00000048138 |
Gene Name |
doublesex and mab-3 related transcription factor 2 |
Synonyms |
Terra |
MMRRC Submission |
067773-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8420 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
25649775-25656355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25655379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 326
(V326A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059654
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053068]
|
AlphaFold |
Q8BG36 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053068
AA Change: V326A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059654 Gene: ENSMUSG00000048138 AA Change: V326A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,937,746 (GRCm39) |
S11P |
unknown |
Het |
Adrb2 |
T |
C |
18: 62,312,004 (GRCm39) |
T274A |
probably damaging |
Het |
Aph1b |
A |
G |
9: 66,701,503 (GRCm39) |
S45P |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,887,806 (GRCm39) |
D321E |
|
Het |
C1qbp |
A |
G |
11: 70,869,543 (GRCm39) |
V180A |
possibly damaging |
Het |
C4b |
G |
T |
17: 34,953,513 (GRCm39) |
A990D |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,915,612 (GRCm39) |
S123T |
possibly damaging |
Het |
Cdh18 |
A |
C |
15: 23,474,138 (GRCm39) |
E669D |
possibly damaging |
Het |
Ceacam3 |
T |
A |
7: 16,895,608 (GRCm39) |
V526D |
|
Het |
Cenpf |
C |
T |
1: 189,404,782 (GRCm39) |
C349Y |
probably damaging |
Het |
Dock9 |
T |
C |
14: 121,783,454 (GRCm39) |
Q2023R |
probably damaging |
Het |
Exd2 |
A |
G |
12: 80,522,771 (GRCm39) |
R77G |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,287,148 (GRCm39) |
K1410* |
probably null |
Het |
Eya2 |
A |
G |
2: 165,608,988 (GRCm39) |
T443A |
probably damaging |
Het |
Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
Foxp2 |
G |
T |
6: 15,403,866 (GRCm39) |
R381L |
unknown |
Het |
Grm7 |
T |
G |
6: 111,057,315 (GRCm39) |
V305G |
probably benign |
Het |
Gzma |
G |
A |
13: 113,237,464 (GRCm39) |
R8W |
probably benign |
Het |
H6pd |
T |
C |
4: 150,066,133 (GRCm39) |
E759G |
probably benign |
Het |
Ift27 |
A |
G |
15: 78,048,391 (GRCm39) |
V154A |
probably benign |
Het |
Kif1a |
A |
T |
1: 92,950,141 (GRCm39) |
S1429T |
probably benign |
Het |
Lrrn1 |
T |
A |
6: 107,546,294 (GRCm39) |
D697E |
probably benign |
Het |
Mcrs1 |
A |
T |
15: 99,141,575 (GRCm39) |
I387N |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,448,807 (GRCm39) |
T7675A |
probably damaging |
Het |
Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
Nid1 |
C |
A |
13: 13,612,416 (GRCm39) |
L44I |
possibly damaging |
Het |
Or2f2 |
A |
T |
6: 42,767,644 (GRCm39) |
T224S |
possibly damaging |
Het |
Or4m1 |
T |
C |
14: 50,558,233 (GRCm39) |
T20A |
probably benign |
Het |
Or5h27 |
A |
G |
16: 59,006,117 (GRCm39) |
I243T |
unknown |
Het |
Or8k1 |
T |
A |
2: 86,047,457 (GRCm39) |
E199V |
probably damaging |
Het |
Pde11a |
C |
T |
2: 75,889,354 (GRCm39) |
D707N |
probably damaging |
Het |
Pigf |
A |
T |
17: 87,327,910 (GRCm39) |
L119* |
probably null |
Het |
Pkd1l1 |
A |
T |
11: 8,820,277 (GRCm39) |
C1679* |
probably null |
Het |
Prnp |
A |
G |
2: 131,778,669 (GRCm39) |
N107S |
probably benign |
Het |
Ptgfr |
C |
T |
3: 151,541,053 (GRCm39) |
V152M |
possibly damaging |
Het |
Rap2b |
A |
G |
3: 61,271,805 (GRCm39) |
|
probably benign |
Het |
Rtn4 |
A |
G |
11: 29,657,300 (GRCm39) |
T485A |
probably damaging |
Het |
Sec23b |
A |
G |
2: 144,401,234 (GRCm39) |
T32A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,437,679 (GRCm39) |
|
probably null |
Het |
Slc13a5 |
A |
G |
11: 72,148,210 (GRCm39) |
L275P |
probably damaging |
Het |
Slc20a1 |
C |
T |
2: 129,041,784 (GRCm39) |
A49V |
probably damaging |
Het |
Slc35g2 |
A |
G |
9: 100,435,224 (GRCm39) |
I149T |
probably benign |
Het |
Syk |
T |
A |
13: 52,778,763 (GRCm39) |
I283K |
probably benign |
Het |
Taf7l2 |
T |
C |
10: 115,948,440 (GRCm39) |
Y362C |
probably benign |
Het |
Tnfsf13b |
G |
A |
8: 10,056,795 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,701,476 (GRCm39) |
V1592A |
probably benign |
Het |
Vopp1 |
T |
C |
6: 57,739,379 (GRCm39) |
*123W |
probably null |
Het |
Xpo4 |
T |
A |
14: 57,841,913 (GRCm39) |
Q467H |
probably damaging |
Het |
Zdhhc22 |
A |
C |
12: 87,035,143 (GRCm39) |
V103G |
possibly damaging |
Het |
Zfp868 |
A |
G |
8: 70,064,160 (GRCm39) |
S392P |
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 |
|
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 |
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'- GAAACATCTCAAGCTGCTGCC -3'
(R):5'- TCATGTCTTGCTCTGCGCTAAG -3'
Sequencing Primer
(F):5'- AAACATCTCAAGCTGCTGCCTTATTC -3'
(R):5'- TAAGCCCATCCTGAACTCGGG -3'
|
Posted On |
2020-10-20 |