Incidental Mutation 'R3695:Dmrta1'
ID |
268940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmrta1
|
Ensembl Gene |
ENSMUSG00000043753 |
Gene Name |
doublesex and mab-3 related transcription factor like family A1 |
Synonyms |
Dmrt4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3695 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
89576435-89583003 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 89580415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 458
(Y458*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052478]
|
AlphaFold |
Q8CFG4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052478
AA Change: Y458*
|
SMART Domains |
Protein: ENSMUSP00000057488 Gene: ENSMUSG00000043753 AA Change: Y458*
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
37 |
N/A |
INTRINSIC |
DM
|
82 |
135 |
2.31e-30 |
SMART |
low complexity region
|
151 |
165 |
N/A |
INTRINSIC |
Pfam:DMA
|
314 |
350 |
3.3e-21 |
PFAM |
low complexity region
|
393 |
404 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131576
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile; however, females exhibit polyovular ovarian follicles while 25% of males display abnormal copulatory behavior toward other males. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
B430306N03Rik |
C |
T |
17: 48,626,194 (GRCm39) |
T129I |
possibly damaging |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Gabrr2 |
A |
G |
4: 33,071,430 (GRCm39) |
D65G |
probably damaging |
Het |
Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
Mdm4 |
A |
G |
1: 132,919,731 (GRCm39) |
L379S |
probably benign |
Het |
Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
Tlr5 |
A |
T |
1: 182,802,912 (GRCm39) |
R739W |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
Tsnaxip1 |
A |
G |
8: 106,560,167 (GRCm39) |
T40A |
possibly damaging |
Het |
Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
possibly damaging |
Het |
|
Other mutations in Dmrta1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02154:Dmrta1
|
APN |
4 |
89,580,150 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02572:Dmrta1
|
APN |
4 |
89,579,795 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02875:Dmrta1
|
APN |
4 |
89,579,985 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02883:Dmrta1
|
APN |
4 |
89,577,011 (GRCm39) |
missense |
probably benign |
|
R0097:Dmrta1
|
UTSW |
4 |
89,577,109 (GRCm39) |
missense |
probably benign |
0.08 |
R0097:Dmrta1
|
UTSW |
4 |
89,577,109 (GRCm39) |
missense |
probably benign |
0.08 |
R0394:Dmrta1
|
UTSW |
4 |
89,580,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R2093:Dmrta1
|
UTSW |
4 |
89,579,742 (GRCm39) |
missense |
probably benign |
|
R2132:Dmrta1
|
UTSW |
4 |
89,576,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Dmrta1
|
UTSW |
4 |
89,576,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R2401:Dmrta1
|
UTSW |
4 |
89,579,853 (GRCm39) |
missense |
probably benign |
0.00 |
R3694:Dmrta1
|
UTSW |
4 |
89,580,415 (GRCm39) |
nonsense |
probably null |
|
R3891:Dmrta1
|
UTSW |
4 |
89,579,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3892:Dmrta1
|
UTSW |
4 |
89,579,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3929:Dmrta1
|
UTSW |
4 |
89,579,681 (GRCm39) |
nonsense |
probably null |
|
R4620:Dmrta1
|
UTSW |
4 |
89,577,021 (GRCm39) |
missense |
probably benign |
0.05 |
R4927:Dmrta1
|
UTSW |
4 |
89,579,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R4982:Dmrta1
|
UTSW |
4 |
89,576,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R5312:Dmrta1
|
UTSW |
4 |
89,580,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R5437:Dmrta1
|
UTSW |
4 |
89,579,993 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5637:Dmrta1
|
UTSW |
4 |
89,577,068 (GRCm39) |
missense |
probably benign |
|
R6185:Dmrta1
|
UTSW |
4 |
89,580,005 (GRCm39) |
missense |
probably damaging |
0.97 |
R6906:Dmrta1
|
UTSW |
4 |
89,580,203 (GRCm39) |
missense |
probably benign |
0.06 |
R7156:Dmrta1
|
UTSW |
4 |
89,576,700 (GRCm39) |
missense |
probably damaging |
0.99 |
R7201:Dmrta1
|
UTSW |
4 |
89,580,408 (GRCm39) |
nonsense |
probably null |
|
R7755:Dmrta1
|
UTSW |
4 |
89,580,170 (GRCm39) |
missense |
probably benign |
0.01 |
R7862:Dmrta1
|
UTSW |
4 |
89,576,561 (GRCm39) |
missense |
probably benign |
0.00 |
R7880:Dmrta1
|
UTSW |
4 |
89,577,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8714:Dmrta1
|
UTSW |
4 |
89,579,682 (GRCm39) |
missense |
probably benign |
|
R8841:Dmrta1
|
UTSW |
4 |
89,579,950 (GRCm39) |
missense |
probably benign |
0.00 |
R9028:Dmrta1
|
UTSW |
4 |
89,579,914 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Dmrta1
|
UTSW |
4 |
89,576,735 (GRCm39) |
missense |
probably benign |
0.16 |
Z1177:Dmrta1
|
UTSW |
4 |
89,576,691 (GRCm39) |
missense |
probably benign |
0.37 |
Z1177:Dmrta1
|
UTSW |
4 |
89,576,645 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGCGTCAGATTTTAGTCTTGC -3'
(R):5'- CTGAGAGGCCAAGCTTATGC -3'
Sequencing Primer
(F):5'- TCTTGAAGCTGCGTCTGC -3'
(R):5'- AGTACATTAAAAAGTGTGTGTGTGTG -3'
|
Posted On |
2015-02-19 |