Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Pola2'

List |< first << previous [record 38 of 40] next >> last >|

301674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pola2

Ensembl Gene

ENSMUSG00000024833

Gene Name

polymerase (DNA directed), alpha 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

5940543-5964206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5953774 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 191 (V191A)

Ref Sequence

ENSEMBL: ENSMUSP00000128866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025752] [ENSMUST00000165143]

Predicted Effect

probably benign
Transcript: ENSMUST00000025752
AA Change: V191A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025752
Gene: ENSMUSG00000024833
AA Change: V191A

Domain	Start	End	E-Value	Type
Pfam:Pol_alpha_B_N	17	243	5.4e-17	PFAM
Pfam:DNA_pol_E_B	342	549	9.8e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165143
AA Change: V191A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128866
Gene: ENSMUSG00000024833
AA Change: V191A

Domain	Start	End	E-Value	Type
Pfam:Pol_alpha_B_N	15	248	3.1e-59	PFAM
Pfam:DNA_pol_E_B	342	549	2e-49	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Pola2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Pola2	APN	19	5959093	missense	probably benign	0.19
IGL01704:Pola2	APN	19	5942019	missense	probably damaging	1.00
IGL01807:Pola2	APN	19	5953159	splice site	probably benign
IGL02039:Pola2	APN	19	5948469	missense	probably damaging	1.00
PIT4403001:Pola2	UTSW	19	5959046	missense	possibly damaging	0.73
R0189:Pola2	UTSW	19	5942342	splice site	probably benign
R1467:Pola2	UTSW	19	5942065	nonsense	probably null
R1467:Pola2	UTSW	19	5942065	nonsense	probably null
R1521:Pola2	UTSW	19	5948406	missense	probably damaging	1.00
R1682:Pola2	UTSW	19	5953063	critical splice donor site	probably null
R1806:Pola2	UTSW	19	5943222	critical splice donor site	probably null
R1934:Pola2	UTSW	19	5953741	missense	probably damaging	1.00
R1938:Pola2	UTSW	19	5951180	missense	probably benign	0.01
R4833:Pola2	UTSW	19	5953864	missense	probably damaging	1.00
R5643:Pola2	UTSW	19	5961170	missense	probably benign	0.03
R5644:Pola2	UTSW	19	5961170	missense	probably benign	0.03
R6192:Pola2	UTSW	19	5953774	missense	possibly damaging	0.46
R7509:Pola2	UTSW	19	5961166	missense	probably benign	0.26
R8217:Pola2	UTSW	19	5963827	missense	possibly damaging	0.91
Z1177:Pola2	UTSW	19	5953828	missense	probably benign	0.01

Posted On

2015-04-16