Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02119:Poldip2'

280496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Poldip2

Ensembl Gene

ENSMUSG00000001100

Gene Name

polymerase (DNA-directed), delta interacting protein 2

Synonyms

mitogenin 1, 1300003F06Rik

Accession Numbers

Genbank: NM_026389; MGI: 1915061

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

78512193-78522736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78517908 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 200 (F200I)

Ref Sequence

ENSEMBL: ENSMUSP00000001127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000017759] [ENSMUST00000108277]

Predicted Effect

probably damaging
Transcript: ENSMUST00000001127
AA Change: F200I

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

SMART Domains

Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: F200I

Domain	Start	End	E-Value	Type
low complexity region	29	47	N/A	INTRINSIC
YccV-like	74	210	1.03e-39	SMART
Pfam:DUF525	252	338	2.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000017759

SMART Domains

Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615

Domain	Start	End	E-Value	Type
BTB	28	128	4.8e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108277

SMART Domains

Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615

Domain	Start	End	E-Value	Type
BTB	28	128	4.8e-18	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000133601
AA Change: F165I

SMART Domains

Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: F165I

Domain	Start	End	E-Value	Type
YccV-like	40	176	1.03e-39	SMART
Pfam:DUF525	218	278	4.9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156754

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality and decreased body size. Mice heterozygous for this allele exhibit abnormal induced vasoconstriction and vasodilation with abnormal aorta elastic tissue morphology. [provided by MGI curators]

Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bora	A	G	14: 99,053,538	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,313,624	V348L	possibly damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,137,243	V380D	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,121,042	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Havcr1	A	G	11: 46,775,493	Y261C	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Noa1	T	A	5: 77,307,579	Q430L	probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	probably benign	Het

Other mutations in Poldip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Poldip2	APN	11	78512307	unclassified	probably benign
IGL02565:Poldip2	APN	11	78517852	missense	probably damaging	1.00
IGL02735:Poldip2	APN	11	78512336	missense	probably benign	0.04
IGL03115:Poldip2	APN	11	78521144	splice site	probably benign
F6893:Poldip2	UTSW	11	78519194	missense	probably damaging	1.00
IGL02980:Poldip2	UTSW	11	78521228	missense	probably damaging	1.00
R0255:Poldip2	UTSW	11	78512363	missense	probably benign	0.02
R0932:Poldip2	UTSW	11	78512468	missense	possibly damaging	0.52
R1014:Poldip2	UTSW	11	78515162	missense	probably damaging	1.00
R4797:Poldip2	UTSW	11	78513987	missense	probably damaging	1.00
R5505:Poldip2	UTSW	11	78515175	missense	probably benign
R6285:Poldip2	UTSW	11	78517632	splice site	probably null

Posted On

2015-04-16