Incidental Mutation 'R6906:Dmrta1'
ID |
538767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmrta1
|
Ensembl Gene |
ENSMUSG00000043753 |
Gene Name |
doublesex and mab-3 related transcription factor like family A1 |
Synonyms |
Dmrt4 |
MMRRC Submission |
044998-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6906 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
89576435-89583003 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89580203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 388
(T388A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052478]
|
AlphaFold |
Q8CFG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052478
AA Change: T388A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000057488 Gene: ENSMUSG00000043753 AA Change: T388A
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 |
|
Meta Mutation Damage Score |
0.0593 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
98% (45/46) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
A |
G |
5: 24,773,840 (GRCm39) |
F350L |
possibly damaging |
Het |
Ahnak2 |
T |
A |
12: 112,748,933 (GRCm39) |
T305S |
probably benign |
Het |
Anp32a |
A |
G |
9: 62,284,851 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
G |
6: 87,607,068 (GRCm39) |
S449P |
possibly damaging |
Het |
Arl6ip4 |
A |
G |
5: 124,254,614 (GRCm39) |
R36G |
possibly damaging |
Het |
Ascc1 |
G |
A |
10: 59,840,674 (GRCm39) |
D12N |
probably benign |
Het |
Bin1 |
C |
A |
18: 32,554,978 (GRCm39) |
H243Q |
probably benign |
Het |
Ccdc168 |
C |
T |
1: 44,095,173 (GRCm39) |
S1975N |
probably benign |
Het |
Ccdc7a |
C |
A |
8: 129,662,162 (GRCm39) |
V547L |
unknown |
Het |
Cntnap5c |
T |
A |
17: 58,702,302 (GRCm39) |
N1207K |
probably benign |
Het |
Coro7 |
C |
A |
16: 4,451,168 (GRCm39) |
R507L |
probably benign |
Het |
Crtap |
T |
A |
9: 114,210,700 (GRCm39) |
K291N |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
Ehd3 |
T |
C |
17: 74,137,333 (GRCm39) |
F501L |
probably damaging |
Het |
Fbn2 |
A |
C |
18: 58,204,891 (GRCm39) |
L1184R |
possibly damaging |
Het |
Fhip1b |
G |
A |
7: 105,037,476 (GRCm39) |
T369I |
probably damaging |
Het |
Hsf1 |
T |
C |
15: 76,361,919 (GRCm39) |
|
probably null |
Het |
Hycc1 |
A |
T |
5: 24,204,956 (GRCm39) |
W12R |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,762,437 (GRCm39) |
H810R |
possibly damaging |
Het |
Lrp5 |
A |
T |
19: 3,672,638 (GRCm39) |
I557N |
probably damaging |
Het |
Lypd1 |
T |
C |
1: 125,838,196 (GRCm39) |
E41G |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,724,853 (GRCm39) |
Y443C |
probably damaging |
Het |
Muc2 |
A |
G |
7: 141,284,976 (GRCm39) |
D871G |
probably damaging |
Het |
Nup85 |
T |
A |
11: 115,471,769 (GRCm39) |
Y198N |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,923,744 (GRCm39) |
M6578L |
possibly damaging |
Het |
Or8h7 |
T |
C |
2: 86,721,091 (GRCm39) |
T143A |
probably benign |
Het |
Osbpl5 |
G |
C |
7: 143,248,065 (GRCm39) |
Q667E |
probably damaging |
Het |
Ovgp1 |
T |
A |
3: 105,894,189 (GRCm39) |
|
probably benign |
Het |
Prl8a2 |
T |
A |
13: 27,532,900 (GRCm39) |
N37K |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,126,474 (GRCm39) |
I93N |
possibly damaging |
Het |
Rnf112 |
T |
C |
11: 61,341,215 (GRCm39) |
S457G |
probably null |
Het |
Sema3e |
A |
G |
5: 14,290,601 (GRCm39) |
D562G |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,236,937 (GRCm39) |
M472V |
probably damaging |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Shc3 |
T |
C |
13: 51,620,595 (GRCm39) |
T144A |
probably damaging |
Het |
Sis |
A |
G |
3: 72,826,818 (GRCm39) |
L1287P |
probably damaging |
Het |
Srrm2 |
C |
T |
17: 24,039,337 (GRCm39) |
P2090S |
probably damaging |
Het |
Syne2 |
T |
G |
12: 76,042,760 (GRCm39) |
D3910E |
possibly damaging |
Het |
Tcaim |
C |
T |
9: 122,663,839 (GRCm39) |
T443I |
probably benign |
Het |
Tex19.1 |
T |
C |
11: 121,037,948 (GRCm39) |
V102A |
probably benign |
Het |
Tpd52l1 |
T |
G |
10: 31,208,950 (GRCm39) |
T168P |
possibly damaging |
Het |
Trdn |
G |
A |
10: 33,109,944 (GRCm39) |
C294Y |
probably benign |
Het |
Trmt1l |
T |
C |
1: 151,327,926 (GRCm39) |
Y479H |
probably benign |
Het |
Vmn1r171 |
G |
A |
7: 23,331,804 (GRCm39) |
V10I |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,351,128 (GRCm39) |
D80E |
possibly damaging |
Het |
Zcchc4 |
A |
G |
5: 52,980,976 (GRCm39) |
K473E |
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 |
|
R3695: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 |
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 |
89,576,691 (GRCm39) |
missense |
probably benign |
0.37 |
Z1177:Dmrta1
|
UTSW |
4 |
89,576,645 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Dmrta1
|
UTSW |
4 |
89,576,735 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- TACAAGCATAGCCGCCTAGAAG -3'
(R):5'- TCCCTGGAAACGCATAATCC -3'
Sequencing Primer
(F):5'- AGGCATTCTACAGTTCTGCAAGG -3'
(R):5'- GGCAATGCTGGAACCAGTC -3'
|
Posted On |
2018-11-06 |