Incidental Mutation 'R0665:Dppa3'
| ID |
61983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dppa3
|
| Ensembl Gene |
ENSMUSG00000046323 |
| Gene Name |
developmental pluripotency-associated 3 |
| Synonyms |
2410075G02Rik, stella, PGC7 |
| MMRRC Submission |
038850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R0665 (G1)
|
| Quality Score |
86 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
122603383-122607230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122606939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 143
(E143G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049644]
|
| AlphaFold |
Q8QZY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049644
AA Change: E143G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000062832
Gene: ENSMUSG00000046323
AA Change: E143G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGC7_Stella
|
1 |
149 |
1e-37 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123429
AA Change: E133G
|
| SMART Domains |
Protein: ENSMUSP00000115252
Gene: ENSMUSG00000046323
AA Change: E133G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGC7_Stella
|
11 |
140 |
2.6e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.1259 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,631,554 (GRCm39) |
Y304C |
probably damaging |
Het |
| B3galt2 |
T |
C |
1: 143,522,191 (GRCm39) |
V109A |
possibly damaging |
Het |
| Chml |
T |
A |
1: 175,515,461 (GRCm39) |
E153D |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,838,304 (GRCm39) |
C78* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,955,129 (GRCm39) |
F2053L |
probably damaging |
Het |
| Espnl |
T |
G |
1: 91,262,409 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,908,698 (GRCm39) |
A2435T |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,455,530 (GRCm39) |
V2027M |
probably damaging |
Het |
| Gtf2h2 |
C |
T |
13: 100,617,562 (GRCm39) |
G200E |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,406,944 (GRCm39) |
I251V |
probably benign |
Het |
| Kri1 |
G |
A |
9: 21,192,936 (GRCm39) |
|
probably benign |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or12e1 |
A |
G |
2: 87,022,652 (GRCm39) |
Y207C |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w13 |
C |
T |
2: 87,524,152 (GRCm39) |
V25I |
probably benign |
Het |
| Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,997,330 (GRCm39) |
N287K |
probably damaging |
Het |
| Ralgds |
A |
G |
2: 28,435,218 (GRCm39) |
H458R |
probably damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Sdhc |
T |
C |
1: 170,963,626 (GRCm39) |
Y80C |
probably damaging |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
| Trpc6 |
A |
C |
9: 8,634,123 (GRCm39) |
T401P |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
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 |
|
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 |
|
R6081:Dppa3
|
UTSW |
6 |
122,606,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CCCAGGAAGTCTGGTTATTGAAGCAG -3'
(R):5'- CTGGCAGCAAGCTTTACCCCT -3'
Sequencing Primer
(F):5'- AGTTTGAACGGGACAGTGAGC -3'
(R):5'- TCTAGAACTGTTACAGTAGCCCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation