Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Poldip2'

305638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Poldip2

Ensembl Gene

ENSMUSG00000001100

Gene Name

polymerase (DNA-directed), delta interacting protein 2

Synonyms

1300003F06Rik, mitogenin 1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

78403105-78413562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78403162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 9 (A9T)

Ref Sequence

ENSEMBL: ENSMUSP00000001127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000052566]

AlphaFold

Q91VA6

Predicted Effect

probably benign
Transcript: ENSMUST00000001127
AA Change: A9T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: A9T

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: ENSMUST00000052566

SMART Domains

Protein: ENSMUSP00000058599
Gene: ENSMUSG00000051232

Domain	Start	End	E-Value	Type
Pfam:Vma12	78	204	1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132433

Predicted Effect

probably benign
Transcript: ENSMUST00000133601

SMART Domains

Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100

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: ENSMUST00000135946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148393

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Pou2f1	A	G	1: 165,703,396 (GRCm39)	S718P	probably damaging	Het
Pramel34	G	A	5: 93,786,503 (GRCm39)	P89S	possibly damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Pudp	T	C	18: 50,701,403 (GRCm39)	H110R	probably benign	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Serpina5	A	G	12: 104,070,116 (GRCm39)	T338A	probably benign	Het
Shisa5	T	G	9: 108,885,080 (GRCm39)	F118V	probably damaging	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Tmem259	G	A	10: 79,814,973 (GRCm39)	T217I	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	probably damaging	Het

Other mutations in Poldip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Poldip2	APN	11	78,403,133 (GRCm39)	unclassified	probably benign
IGL02119:Poldip2	APN	11	78,408,734 (GRCm39)	missense	probably damaging	1.00
IGL02565:Poldip2	APN	11	78,408,678 (GRCm39)	missense	probably damaging	1.00
IGL03115:Poldip2	APN	11	78,411,970 (GRCm39)	splice site	probably benign
F6893:Poldip2	UTSW	11	78,410,020 (GRCm39)	missense	probably damaging	1.00
IGL02980:Poldip2	UTSW	11	78,412,054 (GRCm39)	missense	probably damaging	1.00
R0255:Poldip2	UTSW	11	78,403,189 (GRCm39)	missense	probably benign	0.02
R0932:Poldip2	UTSW	11	78,403,294 (GRCm39)	missense	possibly damaging	0.52
R1014:Poldip2	UTSW	11	78,405,988 (GRCm39)	missense	probably damaging	1.00
R4797:Poldip2	UTSW	11	78,404,813 (GRCm39)	missense	probably damaging	1.00
R5505:Poldip2	UTSW	11	78,406,001 (GRCm39)	missense	probably benign
R6285:Poldip2	UTSW	11	78,408,458 (GRCm39)	splice site	probably null
R8917:Poldip2	UTSW	11	78,412,667 (GRCm39)	missense	probably damaging	1.00
R9480:Poldip2	UTSW	11	78,411,988 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16