Mutagenetix > Incidental Mutation

Incidental Mutation 'R1216:Dppa4'

99685

Institutional Source

Beutler Lab

Gene Symbol

Dppa4

Ensembl Gene

ENSMUSG00000058550

Gene Name

developmental pluripotency associated 4

Synonyms

ECAT15-1, 2410091M23Rik

MMRRC Submission

039285-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1216 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48104096-48114600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48113343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 244 (F244S)

Ref Sequence

ENSEMBL: ENSMUSP00000093749 (fasta)

Gene Model

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

AlphaFold

Q8CCG4

Predicted Effect

probably benign
Transcript: ENSMUST00000050705
AA Change: F192S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093748
Gene: ENSMUSG00000058550
AA Change: F192S

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

possibly damaging
Transcript: ENSMUST00000096045
AA Change: F244S

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093749
Gene: ENSMUSG00000058550
AA Change: F244S

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

0.8304

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,868,716 (GRCm39)	D332V	probably damaging	Het
Akr1c12	T	C	13: 4,326,322 (GRCm39)	Y53C	probably benign	Het
Arhgap23	T	C	11: 97,383,498 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,710,276 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,782,767 (GRCm39)	L15P	probably benign	Het
Cadps2	A	G	6: 23,583,472 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Exoc1	A	G	5: 76,702,035 (GRCm39)	K445R	probably benign	Het
Fam47e	A	G	5: 92,710,343 (GRCm39)	E114G	probably damaging	Het
Fgf12	A	T	16: 27,981,202 (GRCm39)	N171K	possibly damaging	Het
Fyb2	G	A	4: 104,852,903 (GRCm39)	V528M	possibly damaging	Het
Ghr	A	G	15: 3,349,337 (GRCm39)	S614P	probably damaging	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gpr152	T	A	19: 4,193,554 (GRCm39)	V365D	possibly damaging	Het
Guca1a	A	G	17: 47,706,637 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,310,997 (GRCm39)	G1079D	probably benign	Het
Hnrnpm	T	C	17: 33,868,687 (GRCm39)	D580G	probably damaging	Het
Ints6	A	T	14: 62,945,147 (GRCm39)	D394E	probably damaging	Het
Kat6b	T	A	14: 21,672,108 (GRCm39)	Y339*	probably null	Het
Kcnj11	C	A	7: 45,749,285 (GRCm39)	V13L	probably benign	Het
Lama3	C	T	18: 12,554,191 (GRCm39)		probably benign	Het
Mtrex	A	G	13: 113,050,876 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,709,473 (GRCm39)	T161A	probably benign	Het
Ncapg	G	T	5: 45,857,261 (GRCm39)	S991I	possibly damaging	Het
Nrde2	G	A	12: 100,116,069 (GRCm39)		probably benign	Het
Or4c127	T	A	2: 89,832,822 (GRCm39)	I24N	probably benign	Het
Or5d18	T	C	2: 87,864,602 (GRCm39)	R294G	probably damaging	Het
Pcdhb7	A	T	18: 37,476,927 (GRCm39)	T688S	probably damaging	Het
Pla2g6	T	C	15: 79,190,635 (GRCm39)	D309G	probably benign	Het
Plod1	A	T	4: 148,005,584 (GRCm39)	V404D	probably damaging	Het
Ppp2r2a	G	T	14: 67,266,447 (GRCm39)	Y71*	probably null	Het
Prcp	A	G	7: 92,566,954 (GRCm39)	N222S	probably benign	Het
Rad21	T	C	15: 51,833,532 (GRCm39)	T316A	possibly damaging	Het
Ranbp2	T	C	10: 58,319,034 (GRCm39)		probably benign	Het
Rapgef4	C	A	2: 72,038,492 (GRCm39)	P548T	possibly damaging	Het
Ric1	G	T	19: 29,555,135 (GRCm39)	M416I	probably benign	Het
Slc9a8	T	C	2: 167,266,041 (GRCm39)	F6S	probably benign	Het
Smpdl3a	T	G	10: 57,678,575 (GRCm39)	I126S	probably null	Het
Sphkap	A	T	1: 83,268,698 (GRCm39)	L98Q	probably damaging	Het
Spink4	T	G	4: 40,924,974 (GRCm39)		probably benign	Het
Taar5	A	T	10: 23,847,605 (GRCm39)	L334F	probably damaging	Het
Tecta	A	T	9: 42,289,203 (GRCm39)	I454K	probably benign	Het
Ttc7	C	T	17: 87,654,006 (GRCm39)	T561M	possibly damaging	Het
Vmn2r9	G	T	5: 108,995,440 (GRCm39)	H403N	probably damaging	Het
Zdbf2	G	A	1: 63,342,161 (GRCm39)	C180Y	possibly damaging	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
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'- TGATGTGTTAGAATCACTCATGCAGGC -3'
(R):5'- ATGAACCTTTCCCGCAGGCAAC -3'

Sequencing Primer
(F):5'- TCACTCATGCAGGCTAAAGG -3'
(R):5'- TATGAACACACTTGGGGCACAG -3'

Posted On

2014-01-15