Mutagenetix > Incidental Mutation

Incidental Mutation 'R1453:Dppa4'

161634

Institutional Source

Beutler Lab

Gene Symbol

Dppa4

Ensembl Gene

ENSMUSG00000058550

Gene Name

developmental pluripotency associated 4

Synonyms

ECAT15-1, 2410091M23Rik

MMRRC Submission

039508-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1453 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

48104096-48114600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 48111596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 194 (A194T)

Ref Sequence

ENSEMBL: ENSMUSP00000093749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050705] [ENSMUST00000096045]

AlphaFold

Q8CCG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000050705
AA Change: A142T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093748
Gene: ENSMUSG00000058550
AA Change: A142T

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 damaging
Transcript: ENSMUST00000096045
AA Change: A194T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550
AA Change: A194T

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: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,763 (GRCm39)	I240M	probably benign	Het
Abcd3	A	T	3: 121,558,710 (GRCm39)	D595E	probably damaging	Het
Akap9	A	G	5: 4,025,614 (GRCm39)		probably null	Het
Arpc1b	A	G	5: 145,062,555 (GRCm39)	D223G	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,866 (GRCm39)	T104S	probably benign	Het
BC005537	T	C	13: 24,989,969 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,587,903 (GRCm39)	D477G	possibly damaging	Het
Chrdl2	T	C	7: 99,666,197 (GRCm39)	V39A	possibly damaging	Het
Clmp	C	G	9: 40,693,737 (GRCm39)	S318W	probably damaging	Het
Cmas	T	C	6: 142,717,853 (GRCm39)	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,079,132 (GRCm39)	T80A	probably benign	Het
Ddx25	T	C	9: 35,453,298 (GRCm39)	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,073,075 (GRCm39)	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,990,316 (GRCm39)	V252I	probably benign	Het
Dnah2	T	C	11: 69,341,876 (GRCm39)	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,370,480 (GRCm39)		probably null	Het
Dst	T	C	1: 34,228,527 (GRCm39)	V2218A	possibly damaging	Het
Dytn	G	C	1: 63,673,032 (GRCm39)	S457C	probably damaging	Het
Fndc3a	G	A	14: 72,777,768 (GRCm39)	Q1101*	probably null	Het
Focad	A	T	4: 88,275,679 (GRCm39)		probably null	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gm5093	A	G	17: 46,750,622 (GRCm39)	F135S	probably benign	Het
Gmeb1	A	T	4: 131,969,759 (GRCm39)	D71E	possibly damaging	Het
Heatr5b	G	A	17: 79,124,992 (GRCm39)	R587C	probably damaging	Het
Jakmip2	T	C	18: 43,692,279 (GRCm39)		probably null	Het
Mier3	T	A	13: 111,841,778 (GRCm39)	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,318,779 (GRCm39)	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,741,901 (GRCm39)	K677R	probably benign	Het
Nhsl1	T	C	10: 18,407,323 (GRCm39)	S1486P	probably damaging	Het
Nup133	A	G	8: 124,642,114 (GRCm39)	I783T	probably benign	Het
Or10d4c	A	T	9: 39,558,459 (GRCm39)	T146S	probably benign	Het
Or5an1c	A	T	19: 12,218,956 (GRCm39)	I23K	probably benign	Het
Pigr	A	T	1: 130,769,281 (GRCm39)	I31L	probably benign	Het
Plaat5	A	G	19: 7,616,999 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel6	T	A	2: 87,338,917 (GRCm39)	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,530,553 (GRCm39)		probably null	Het
Rinl	T	C	7: 28,496,329 (GRCm39)	C437R	probably damaging	Het
Shank1	T	C	7: 43,965,499 (GRCm39)	S192P	unknown	Het
Slc2a10	A	T	2: 165,359,570 (GRCm39)	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,343,877 (GRCm39)	L12H	probably damaging	Het
Slit2	T	A	5: 48,414,393 (GRCm39)	C970S	possibly damaging	Het
Stard9	T	C	2: 120,496,857 (GRCm39)	S119P	probably damaging	Het
Stim2	C	A	5: 54,273,451 (GRCm39)	D568E	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf3	A	G	12: 111,221,757 (GRCm39)	E306G	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll6	T	C	11: 96,049,714 (GRCm39)	S811P	possibly damaging	Het
Ubr7	A	G	12: 102,735,437 (GRCm39)	K299E	probably benign	Het
Urb1	C	A	16: 90,593,380 (GRCm39)	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,590 (GRCm39)	E183D	probably damaging	Het
Zfp35	T	G	18: 24,136,557 (GRCm39)	Y300*	probably null	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp938	C	T	10: 82,063,632 (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
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'- AAGACGCCAGGTTGAAGACAGCTC -3'
(R):5'- CCTGGATCAACAGCCTCGTTATCAC -3'

Sequencing Primer
(F):5'- TTGAAGACAGCTCACAAAAAAATG -3'
(R):5'- tcaggaggcagaggcag -3'

Posted On

2014-03-14