Incidental Mutation 'R6081:Dppa3'
ID |
482918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dppa3
|
Ensembl Gene |
ENSMUSG00000046323 |
Gene Name |
developmental pluripotency-associated 3 |
Synonyms |
2410075G02Rik, stella, PGC7 |
MMRRC Submission |
044240-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R6081 (G1)
|
Quality Score |
161.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
122603383-122607230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122606931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 140
(D140E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049644]
|
AlphaFold |
Q8QZY3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049644
AA Change: D140E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062832 Gene: ENSMUSG00000046323 AA Change: D140E
Domain | Start | End | E-Value | Type |
Pfam:PGC7_Stella
|
1 |
149 |
1e-37 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123429
AA Change: D130E
|
SMART Domains |
Protein: ENSMUSP00000115252 Gene: ENSMUSG00000046323 AA Change: D130E
Domain | Start | End | E-Value | Type |
Pfam:PGC7_Stella
|
11 |
140 |
2.6e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Female mice homozygous for a disruption in this gene are infertile or have reduced fertility due to a failure in embryonic development at or before implantation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
probably benign |
Het |
|
Other mutations in Dppa3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0464:Dppa3
|
UTSW |
6 |
122,605,492 (GRCm39) |
splice site |
probably null |
|
R0525:Dppa3
|
UTSW |
6 |
122,606,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R0584:Dppa3
|
UTSW |
6 |
122,606,951 (GRCm39) |
missense |
probably benign |
0.00 |
R0665:Dppa3
|
UTSW |
6 |
122,606,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R4230:Dppa3
|
UTSW |
6 |
122,606,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R4544:Dppa3
|
UTSW |
6 |
122,603,726 (GRCm39) |
intron |
probably benign |
|
R5085:Dppa3
|
UTSW |
6 |
122,606,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R7219:Dppa3
|
UTSW |
6 |
122,606,918 (GRCm39) |
missense |
probably damaging |
0.99 |
R8703:Dppa3
|
UTSW |
6 |
122,605,737 (GRCm39) |
missense |
probably damaging |
0.98 |
R8867:Dppa3
|
UTSW |
6 |
122,605,602 (GRCm39) |
missense |
probably benign |
|
R9007:Dppa3
|
UTSW |
6 |
122,605,724 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCTTAATGCATGGGTGGG -3'
(R):5'- GGATCGTTGTGCATCCTATCTAC -3'
Sequencing Primer
(F):5'- ACTAGGAATGTGTCTGGGGAG -3'
(R):5'- TGTGCATCCTATCTACAATTTAAAGG -3'
|
Posted On |
2017-07-14 |