Mutagenetix > Incidental Mutation

Incidental Mutation 'R0346:Dppa4'

34304

Institutional Source

Beutler Lab

Gene Symbol

Dppa4

Ensembl Gene

ENSMUSG00000058550

Gene Name

developmental pluripotency associated 4

Synonyms

ECAT15-1, 2410091M23Rik

MMRRC Submission

038553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48104096-48114600 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 48109687 bp (GRCm39)

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: 9,516,278 (GRCm39)	I4406L	probably damaging	Het
Abca16	T	A	7: 120,035,155 (GRCm39)	C314S	probably damaging	Het
Add3	C	T	19: 53,205,387 (GRCm39)	R46*	probably null	Het
Alas1	A	T	9: 106,120,550 (GRCm39)	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,429,567 (GRCm39)	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,582,479 (GRCm39)	R365*	probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
AU021092	T	C	16: 5,034,718 (GRCm39)	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Caln1	C	A	5: 130,851,762 (GRCm39)	H184N	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,759,315 (GRCm39)	V372A	probably damaging	Het
Ccng2	T	G	5: 93,418,753 (GRCm39)	I126S	probably damaging	Het
Cep85	A	T	4: 133,859,733 (GRCm39)	N643K	probably damaging	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,129,968 (GRCm39)		probably benign	Het
Cttn	A	T	7: 144,006,276 (GRCm39)		probably benign	Het
Dedd2	T	C	7: 24,910,694 (GRCm39)	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,153,132 (GRCm39)	D263G	probably damaging	Het
Ear2	A	G	14: 44,340,363 (GRCm39)	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,345,452 (GRCm39)		probably benign	Het
Etl4	G	T	2: 20,764,463 (GRCm39)		probably null	Het
Fbxo15	T	A	18: 84,978,346 (GRCm39)		probably null	Het
Gm9970	A	G	5: 31,398,182 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,246,855 (GRCm39)	S17P	probably benign	Het
Hgd	C	T	16: 37,409,136 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,386,370 (GRCm39)	C364R	probably damaging	Het
Inpp5f	T	A	7: 128,292,392 (GRCm39)	L16Q	probably damaging	Het
Irag1	T	C	7: 110,498,183 (GRCm39)	D404G	probably damaging	Het
Islr2	G	A	9: 58,105,626 (GRCm39)	R545*	probably null	Het
Itgav	G	T	2: 83,622,953 (GRCm39)	C675F	probably damaging	Het
Kif13a	T	A	13: 46,967,695 (GRCm39)	I403L	possibly damaging	Het
Kif14	T	A	1: 136,395,898 (GRCm39)	I68N	probably damaging	Het
Kif26a	G	T	12: 112,145,782 (GRCm39)	K1764N	probably null	Het
Lrrd1	C	A	5: 3,900,215 (GRCm39)	F173L	probably benign	Het
Mroh4	G	C	15: 74,486,141 (GRCm39)		probably benign	Het
Msh5	A	G	17: 35,248,864 (GRCm39)	V723A	probably benign	Het
Mybph	T	G	1: 134,125,492 (GRCm39)	I279S	probably damaging	Het
Myh4	A	T	11: 67,151,152 (GRCm39)	I1936L	probably benign	Het
Myo1h	A	T	5: 114,493,270 (GRCm39)	T704S	probably benign	Het
Nav2	C	A	7: 49,254,333 (GRCm39)	T2377K	probably benign	Het
Nipbl	T	G	15: 8,390,440 (GRCm39)	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 19,758,440 (GRCm39)	L559P	probably damaging	Het
Nup210l	T	A	3: 90,096,745 (GRCm39)	V1318E	probably damaging	Het
Or1e26	A	G	11: 73,480,283 (GRCm39)	Y94H	probably damaging	Het
Or4z4	A	T	19: 12,076,803 (GRCm39)	S67T	probably damaging	Het
Or6c8b	C	A	10: 128,882,342 (GRCm39)	V197F	possibly damaging	Het
Or7e178	A	G	9: 20,225,707 (GRCm39)	S170P	probably benign	Het
P2ry13	T	C	3: 59,116,987 (GRCm39)	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,198,710 (GRCm39)	L966P	probably benign	Het
Prss35	A	G	9: 86,637,404 (GRCm39)	K58R	probably benign	Het
Ptafr	T	A	4: 132,307,390 (GRCm39)	L260*	probably null	Het
Pum1	A	T	4: 130,507,116 (GRCm39)	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf145	A	G	11: 44,445,991 (GRCm39)	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,346,554 (GRCm39)	K218N	possibly damaging	Het
Rps6	T	C	4: 86,774,218 (GRCm39)	T128A	probably benign	Het
Ryr1	G	T	7: 28,767,013 (GRCm39)		probably benign	Het
Scel	A	T	14: 103,767,420 (GRCm39)	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,847,111 (GRCm39)	D57E	probably benign	Het
Slc35d1	A	C	4: 103,048,044 (GRCm39)	L240R	probably damaging	Het
Smcr8	A	G	11: 60,670,576 (GRCm39)	I575V	probably benign	Het
Spata31e4	T	C	13: 50,857,346 (GRCm39)	Y995H	probably benign	Het
Syk	G	A	13: 52,794,695 (GRCm39)	M476I	probably damaging	Het
Tbcel	A	T	9: 42,348,539 (GRCm39)		probably benign	Het
Tob2	C	A	15: 81,742,424 (GRCm39)	G65W	probably damaging	Het
Trim16	A	G	11: 62,731,520 (GRCm39)	N464D	probably benign	Het
Trim36	T	C	18: 46,332,776 (GRCm39)		probably benign	Het
Trpv4	C	A	5: 114,768,590 (GRCm39)		probably benign	Het
Tsga10	T	A	1: 37,879,600 (GRCm39)	T64S	possibly damaging	Het
Vars2	A	T	17: 35,975,756 (GRCm39)		probably benign	Het
Vmn1r72	C	A	7: 11,403,621 (GRCm39)	V276L	probably benign	Het
Vps13a	T	A	19: 16,655,333 (GRCm39)	K1898N	probably benign	Het
Vps18	A	G	2: 119,127,645 (GRCm39)	M823V	probably damaging	Het
Washc2	T	C	6: 116,197,484 (GRCm39)		probably benign	Het
Zfp763	A	T	17: 33,238,721 (GRCm39)	H141Q	probably benign	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
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
R4452:Dppa4	UTSW	16	48,109,699 (GRCm39)	missense	probably benign	0.38
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'- CCAGTGAACCTGATTCACCGAGATG -3'
(R):5'- AGAAGGGAGTCAAGGCAATCCCTC -3'

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

Posted On

2013-05-09