Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Poldip2'

34695

Institutional Source

Beutler Lab

Gene Symbol

Poldip2

Ensembl Gene

ENSMUSG00000001100

Gene Name

polymerase (DNA-directed), delta interacting protein 2

Synonyms

1300003F06Rik, mitogenin 1

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0255 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

78403105-78413562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78403189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 18 (S18T)

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: S18T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: S18T

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

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,907 (GRCm39)	F119S	probably damaging	Het
Abca13	C	A	11: 9,531,545 (GRCm39)	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,476,631 (GRCm39)	M1329K	probably damaging	Het
Aoah	A	T	13: 21,163,710 (GRCm39)	K338*	probably null	Het
Ascc3	A	T	10: 50,521,154 (GRCm39)	T416S	probably benign	Het
Baz2a	A	G	10: 127,950,508 (GRCm39)	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,727,477 (GRCm39)	N351S	probably benign	Het
Cacna1s	T	G	1: 136,046,544 (GRCm39)	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,729,582 (GRCm39)	D357G	unknown	Het
Ccna1	T	C	3: 54,958,049 (GRCm39)	E152G	probably damaging	Het
Cct4	A	G	11: 22,949,073 (GRCm39)	D273G	probably damaging	Het
Cd9	A	G	6: 125,440,703 (GRCm39)	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh20	T	C	1: 109,922,036 (GRCm39)	S43P	probably benign	Het
Cep95	G	A	11: 106,702,097 (GRCm39)	V365M	probably benign	Het
Ces1c	T	C	8: 93,854,152 (GRCm39)	T128A	probably benign	Het
Chil5	A	G	3: 105,926,583 (GRCm39)	V82A	probably damaging	Het
Clmn	T	C	12: 104,748,023 (GRCm39)	D508G	probably benign	Het
Cog8	A	T	8: 107,775,777 (GRCm39)		probably benign	Het
Cst3	A	T	2: 148,717,089 (GRCm39)	V70E	probably damaging	Het
Ctcf	A	G	8: 106,390,671 (GRCm39)	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,416,188 (GRCm39)	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,029,262 (GRCm39)	D6E	probably benign	Het
Dhx34	A	G	7: 15,939,917 (GRCm39)	V655A	probably benign	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Dok7	A	T	5: 35,221,678 (GRCm39)	D26V	probably damaging	Het
Epha8	G	A	4: 136,667,597 (GRCm39)	H295Y	probably damaging	Het
Esf1	A	G	2: 139,990,843 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,671,672 (GRCm39)	S588P	probably benign	Het
Fat3	G	A	9: 15,881,002 (GRCm39)		probably benign	Het
Fhdc1	T	C	3: 84,360,817 (GRCm39)		probably benign	Het
Frmd4b	A	G	6: 97,285,047 (GRCm39)	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727 (GRCm39)	T394A	probably damaging	Het
Gbf1	A	G	19: 46,242,549 (GRCm39)		probably benign	Het
Glg1	G	T	8: 111,886,490 (GRCm39)	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,487,361 (GRCm39)		probably null	Het
Gm19345	T	C	7: 19,588,855 (GRCm39)		probably benign	Het
Gpr179	A	T	11: 97,226,892 (GRCm39)	D1754E	probably benign	Het
Hydin	A	G	8: 111,291,650 (GRCm39)	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,835,822 (GRCm39)	T16I	possibly damaging	Het
Insl5	A	G	4: 102,875,313 (GRCm39)	*146Q	probably null	Het
Iqce	A	T	5: 140,651,957 (GRCm39)	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,927 (GRCm39)	R189H	possibly damaging	Het
Itprid2	T	A	2: 79,490,810 (GRCm39)	L976Q	probably damaging	Het
Itsn1	C	T	16: 91,602,978 (GRCm39)		probably benign	Het
Kansl3	A	T	1: 36,384,050 (GRCm39)	I724N	probably benign	Het
Kcna4	T	C	2: 107,126,907 (GRCm39)	I547T	probably damaging	Het
Klk1b4	A	T	7: 43,860,158 (GRCm39)	I91F	probably benign	Het
Lmbr1	A	G	5: 29,457,753 (GRCm39)	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,765,967 (GRCm39)	A150T	probably benign	Het
Lrrc2	A	G	9: 110,809,966 (GRCm39)	E334G	possibly damaging	Het
Lrrc7	G	A	3: 157,866,475 (GRCm39)	Q1077*	probably null	Het
Mapk8	A	T	14: 33,109,264 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,638,650 (GRCm39)	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,758,777 (GRCm39)	A272S	probably damaging	Het
Myo15b	T	C	11: 115,777,109 (GRCm39)	Y912H	probably damaging	Het
Nf1	T	G	11: 79,299,525 (GRCm39)		probably null	Het
Nme7	T	A	1: 164,172,944 (GRCm39)	D218E	probably damaging	Het
Nsun7	T	A	5: 66,446,751 (GRCm39)		probably benign	Het
Nxpe2	A	G	9: 48,251,870 (GRCm39)		probably null	Het
Or1e34	A	G	11: 73,778,655 (GRCm39)	V181A	probably benign	Het
Or2ag16	G	A	7: 106,352,196 (GRCm39)	T133I	probably benign	Het
Or2n1c	T	G	17: 38,519,286 (GRCm39)	I50R	probably benign	Het
Or5p53	T	A	7: 107,533,375 (GRCm39)	V216D	probably damaging	Het
P2ry1	T	C	3: 60,910,951 (GRCm39)	V30A	probably benign	Het
Pgm2	T	A	5: 64,269,386 (GRCm39)	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 110,365,386 (GRCm39)	D1169V	probably damaging	Het
Prg4	C	T	1: 150,331,558 (GRCm39)		probably benign	Het
Prkab2	T	A	3: 97,574,728 (GRCm39)	Y241*	probably null	Het
Prmt7	A	G	8: 106,953,839 (GRCm39)		probably benign	Het
Proser3	T	A	7: 30,245,842 (GRCm39)	R80W	probably damaging	Het
Prr12	A	G	7: 44,699,415 (GRCm39)		probably benign	Het
Psmd1	A	T	1: 86,006,304 (GRCm39)	L223F	probably damaging	Het
Rab13	A	G	3: 90,131,088 (GRCm39)		probably benign	Het
Rgl1	C	T	1: 152,428,347 (GRCm39)	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556 (GRCm38)		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954 (GRCm39)	V1036A	probably damaging	Het
Sae1	T	A	7: 16,104,247 (GRCm39)	K121*	probably null	Het
Sap130	C	T	18: 31,813,559 (GRCm39)	P539S	probably damaging	Het
Saxo4	C	T	19: 10,452,418 (GRCm39)	R364Q	probably damaging	Het
Scube2	A	G	7: 109,424,079 (GRCm39)	L475P	probably damaging	Het
Sec16a	T	C	2: 26,321,198 (GRCm39)	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,222,003 (GRCm39)	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,788,534 (GRCm39)	Y202*	probably null	Het
Shprh	T	A	10: 11,062,135 (GRCm39)	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,742,937 (GRCm39)	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,771,650 (GRCm39)		probably benign	Het
Slc46a1	T	C	11: 78,361,625 (GRCm39)	F424L	probably damaging	Het
Slc66a2	C	T	18: 80,306,733 (GRCm39)	A101V	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,493,686 (GRCm39)	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,374,663 (GRCm39)	S343T	probably benign	Het
Spcs3	C	A	8: 54,981,415 (GRCm39)	R60I	probably benign	Het
Tbc1d16	C	A	11: 119,038,401 (GRCm39)	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,619,838 (GRCm39)	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,766,951 (GRCm39)	A750E	possibly damaging	Het
Tmem273	A	G	14: 32,530,320 (GRCm39)	K83E	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tmx3	T	C	18: 90,558,130 (GRCm39)	I394T	probably damaging	Het
Trank1	G	A	9: 111,195,092 (GRCm39)	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,499,866 (GRCm39)		probably benign	Het
Tsen54	T	C	11: 115,706,234 (GRCm39)	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,020,373 (GRCm39)	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,683,759 (GRCm39)	M75L	probably benign	Het
Zc3h7a	T	C	16: 10,958,601 (GRCm39)	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,313,485 (GRCm39)	C187R	probably damaging	Het
Zfp692	G	A	11: 58,201,229 (GRCm39)		probably benign	Het
Zmiz1	G	A	14: 25,654,919 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTGATCCCAAACTCGGACTTC -3'
(R):5'- TCTTGGCACATGTCCCAAGCAG -3'

Sequencing Primer
(F):5'- TAGCTGGAGGAGCCCAcg -3'
(R):5'- CCTTAGTAGCTAGGTAGAAAACGCTC -3'

Posted On

2013-05-09