Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Dppa4'

34304

Institutional Source

Beutler Lab

Gene Symbol

Dppa4

Ensembl Gene

ENSMUSG00000058550

Gene Name

developmental pluripotency associated 4

Synonyms

2410091M23Rik, ECAT15-1

MMRRC Submission

038553-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48283733-48294237 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 48289324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550

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

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	probably benign	Het

Other mutations in Dppa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Dppa4	APN	16	48291083	missense	possibly damaging	0.78
IGL02527:Dppa4	APN	16	48289093	missense	possibly damaging	0.93
R0138:Dppa4	UTSW	16	48291062	missense	probably benign	0.25
R1216:Dppa4	UTSW	16	48292980	missense	possibly damaging	0.91
R1453:Dppa4	UTSW	16	48291233	missense	probably damaging	1.00
R1852:Dppa4	UTSW	16	48287884	missense	probably damaging	0.99
R4452:Dppa4	UTSW	16	48289336	missense	probably benign	0.38
R5133:Dppa4	UTSW	16	48292971	missense	probably benign	0.18
R5616:Dppa4	UTSW	16	48291030	missense	probably damaging	1.00
R5665:Dppa4	UTSW	16	48291015	missense	probably benign
R5947:Dppa4	UTSW	16	48291108	missense	possibly damaging	0.78
R5993:Dppa4	UTSW	16	48289346	nonsense	probably null
R6018:Dppa4	UTSW	16	48289127	nonsense	probably null
R6701:Dppa4	UTSW	16	48291311	nonsense	probably null
R6719:Dppa4	UTSW	16	48287884	missense	probably damaging	0.99
R8881:Dppa4	UTSW	16	48287936	missense

Predicted Primers

PCR Primer
(F):5'- CCAGTGAACCTGATTCACCGAGATG -3'
(R):5'- AGAAGGGAGTCAAGGCAATCCCTC -3'

Sequencing Primer
(F):5'- AGATGTTTTGCGGGCATGG -3'
(R):5'- tgcctttcatcccagcac -3'

Posted On

2013-05-09