Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02565:Poldip2'

298772

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 #

IGL02565

Quality Score

Status

Chromosome

Chromosomal Location

78403105-78413562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78408678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 181 (I181T)

Ref Sequence

ENSEMBL: ENSMUSP00000001127 (fasta)

Gene Model

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

AlphaFold

Q91VA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000001127
AA Change: I181T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: I181T

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: I146T

SMART Domains

Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: I146T

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,677 (GRCm39)	S205R	probably benign	Het
Adora3	A	G	3: 105,815,128 (GRCm39)	T293A	probably benign	Het
App	T	C	16: 84,822,308 (GRCm39)		probably null	Het
Asap1	A	G	15: 64,001,014 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,777,770 (GRCm39)	V739E	probably damaging	Het
Bsn	A	G	9: 107,990,487 (GRCm39)	V1755A	probably damaging	Het
Clmp	A	C	9: 40,683,711 (GRCm39)	D147A	probably damaging	Het
Cntn5	A	T	9: 10,145,343 (GRCm39)	C122*	probably null	Het
Ctsb	T	G	14: 63,375,859 (GRCm39)	C198G	probably null	Het
Cyld	A	T	8: 89,467,919 (GRCm39)	R702S	probably damaging	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
Dpy19l4	C	A	4: 11,309,440 (GRCm39)	V59F	probably benign	Het
Eml1	A	T	12: 108,472,779 (GRCm39)	T196S	probably damaging	Het
Fam111a	T	A	19: 12,564,318 (GRCm39)	D22E	probably damaging	Het
Gigyf2	A	G	1: 87,369,858 (GRCm39)	H1150R	probably damaging	Het
Grk5	T	G	19: 61,057,809 (GRCm39)	F170V	probably damaging	Het
Heatr5a	A	C	12: 51,997,882 (GRCm39)	V339G	possibly damaging	Het
Hgd	T	A	16: 37,435,749 (GRCm39)	D153E	possibly damaging	Het
Ift70b	A	G	2: 75,768,247 (GRCm39)	Y169H	probably benign	Het
Igdcc3	T	A	9: 65,087,470 (GRCm39)	L336Q	probably damaging	Het
Jph2	T	C	2: 163,239,265 (GRCm39)	E61G	probably damaging	Het
Ktn1	A	T	14: 47,910,391 (GRCm39)		probably benign	Het
Lrch3	T	A	16: 32,826,084 (GRCm39)	D634E	probably benign	Het
Marchf6	T	C	15: 31,490,712 (GRCm39)		probably benign	Het
Misp	T	A	10: 79,662,177 (GRCm39)	I198N	probably benign	Het
Mmp14	C	T	14: 54,678,014 (GRCm39)	P545L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Muc5b	T	C	7: 141,411,604 (GRCm39)	S1517P	unknown	Het
Nae1	A	T	8: 105,237,841 (GRCm39)	N518K	probably damaging	Het
Pglyrp4	A	T	3: 90,642,794 (GRCm39)	D225V	probably benign	Het
Pgpep1	A	G	8: 71,105,119 (GRCm39)	I47T	probably damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnc1	G	A	11: 107,187,059 (GRCm39)	T88I	probably damaging	Het
Ppfia2	T	C	10: 106,699,247 (GRCm39)		probably null	Het
Rasal1	A	G	5: 120,814,845 (GRCm39)		probably benign	Het
Rbms1	A	G	2: 60,590,123 (GRCm39)	Y305H	probably benign	Het
Rnf123	A	C	9: 107,929,411 (GRCm39)		probably null	Het
Sec14l3	G	A	11: 4,026,237 (GRCm39)		probably benign	Het
Slc2a10	A	C	2: 165,357,000 (GRCm39)	D220A	probably damaging	Het
Slc38a8	T	C	8: 120,212,300 (GRCm39)	T348A	probably damaging	Het
Slc4a5	T	C	6: 83,276,487 (GRCm39)	V1104A	probably benign	Het
Snrpe	T	C	1: 133,536,704 (GRCm39)		probably benign	Het
Th	C	A	7: 142,453,647 (GRCm39)	V18F	probably damaging	Het
Ubqln5	G	A	7: 103,778,279 (GRCm39)	Q182*	probably null	Het
Unc5c	T	C	3: 141,509,680 (GRCm39)	V646A	probably damaging	Het
Wasf1	A	G	10: 40,812,128 (GRCm39)	N306D	possibly 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
IGL02735:Poldip2	APN	11	78,403,162 (GRCm39)	missense	probably benign	0.04
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