Incidental Mutation 'R4452:Dppa4'
| ID |
329026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dppa4
|
| Ensembl Gene |
ENSMUSG00000058550 |
| Gene Name |
developmental pluripotency associated 4 |
| Synonyms |
ECAT15-1, 2410091M23Rik |
| MMRRC Submission |
041713-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4452 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
48104096-48114600 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48109699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 106
(D106E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050705]
[ENSMUST00000096045]
|
| AlphaFold |
Q8CCG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050705
|
| SMART Domains |
Protein: ENSMUSP00000093748
Gene: ENSMUSG00000058550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
142 |
N/A |
INTRINSIC |
|
Pfam:DCR
|
169 |
236 |
1.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096045
AA Change: D106E
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550
AA Change: D106E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
80 |
N/A |
INTRINSIC |
|
Blast:SAP
|
81 |
115 |
3e-9 |
BLAST |
|
Pfam:Dppa2_A
|
123 |
158 |
1.2e-3 |
PFAM |
|
Pfam:Dppa2_A
|
173 |
219 |
1.1e-9 |
PFAM |
|
Pfam:DCR
|
221 |
287 |
1.5e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231359
|
| Meta Mutation Damage Score |
0.0757 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal and postnatal lethality, abnormal lung morphology, skeletal defects, and a maternal effect on female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,297,797 (GRCm39) |
T145A |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
| Aim2 |
A |
G |
1: 173,283,010 (GRCm39) |
T31A |
possibly damaging |
Het |
| Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
| Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
| Gja10 |
A |
G |
4: 32,601,313 (GRCm39) |
V357A |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
| Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
| Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
| Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,256 (GRCm39) |
V43A |
probably benign |
Het |
| Or8d1b |
T |
C |
9: 38,887,382 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
| P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
| Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
| Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,151,237 (GRCm39) |
H281L |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dppa4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Dppa4
|
APN |
16 |
48,111,446 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02527:Dppa4
|
APN |
16 |
48,109,456 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0138:Dppa4
|
UTSW |
16 |
48,111,425 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0346:Dppa4
|
UTSW |
16 |
48,109,687 (GRCm39) |
splice site |
probably benign |
|
|
R1216:Dppa4
|
UTSW |
16 |
48,113,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1453:Dppa4
|
UTSW |
16 |
48,111,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Dppa4
|
UTSW |
16 |
48,108,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5133:Dppa4
|
UTSW |
16 |
48,113,334 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5616:Dppa4
|
UTSW |
16 |
48,111,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Dppa4
|
UTSW |
16 |
48,111,378 (GRCm39) |
missense |
probably benign |
|
|
R5947:Dppa4
|
UTSW |
16 |
48,111,471 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5993:Dppa4
|
UTSW |
16 |
48,109,709 (GRCm39) |
nonsense |
probably null |
|
|
R6018:Dppa4
|
UTSW |
16 |
48,109,490 (GRCm39) |
nonsense |
probably null |
|
|
R6701:Dppa4
|
UTSW |
16 |
48,111,674 (GRCm39) |
nonsense |
probably null |
|
|
R6719:Dppa4
|
UTSW |
16 |
48,108,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8881:Dppa4
|
UTSW |
16 |
48,108,299 (GRCm39) |
missense |
|
|
|
R9628:Dppa4
|
UTSW |
16 |
48,111,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCTGATTCACCGAGATG -3'
(R):5'- CTGCCACTATCCCTTAAAGTGC -3'
Sequencing Primer
(F):5'- GAACCTGATTCACCGAGATGTTTTG -3'
(R):5'- CAAAGTTCCATGCAGGGCTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation