Mutagenetix > Incidental Mutation

Incidental Mutation 'R5559:Poli'

436483

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

043116-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5559 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70508680-70530620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70509285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 529 (S529P)

Ref Sequence

ENSEMBL: ENSMUSP00000123964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043286] [ENSMUST00000121674] [ENSMUST00000159389] [ENSMUST00000160713] [ENSMUST00000161542]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043286
AA Change: S552P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: S552P

Domain	Start	End	E-Value	Type
Pfam:IMS	1	168	5.4e-39	PFAM
Pfam:IMS_HHH	180	212	1.2e-9	PFAM
Pfam:IMS_C	247	379	1.7e-12	PFAM
PDB:2KWV\|A	444	489	8e-23	PDB
low complexity region	532	546	N/A	INTRINSIC
PDB:3AI4\|A	623	674	4e-26	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000121674
AA Change: S615P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: S615P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:IMS	53	231	1e-47	PFAM
Pfam:IMS_HHH	243	275	1.5e-9	PFAM
Pfam:IMS_C	312	441	2.5e-14	PFAM
PDB:2KWV\|A	507	552	8e-23	PDB
low complexity region	595	609	N/A	INTRINSIC
PDB:3AI4\|A	686	737	5e-26	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000159389
AA Change: S529P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: S529P

Domain	Start	End	E-Value	Type
Pfam:IMS	1	145	1.8e-29	PFAM
Pfam:IMS_HHH	157	189	1.7e-9	PFAM
Pfam:IMS_C	224	356	2.4e-12	PFAM
PDB:2KWV\|A	421	466	7e-23	PDB
low complexity region	509	523	N/A	INTRINSIC
PDB:3AI4\|A	600	651	3e-26	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000160713

SMART Domains

Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425

Domain	Start	End	E-Value	Type
Pfam:IMS	1	127	5.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161542
AA Change: S552P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: S552P

Domain	Start	End	E-Value	Type
Pfam:IMS	1	168	5.4e-39	PFAM
Pfam:IMS_HHH	180	212	1.2e-9	PFAM
Pfam:IMS_C	247	379	1.7e-12	PFAM
PDB:2KWV\|A	444	489	8e-23	PDB
low complexity region	532	546	N/A	INTRINSIC
PDB:3AI4\|A	623	674	4e-26	PDB

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation show normal somatic hypermutation of immunoglobulin variable genes and no significant increase in UV-induced epithelial skin tumor formation relative to controls; in contrast, formation of mesenchymal tumors by chronic UV irradiation is enhanced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	T	16: 88,759,093	R65L	unknown	Het
9930021J03Rik	A	C	19: 29,716,963	F1710C	possibly damaging	Het
Abcc5	A	T	16: 20,338,886	M1307K	probably damaging	Het
Anapc1	A	T	2: 128,680,434	C129*	probably null	Het
Brox	A	T	1: 183,291,988	S39R	possibly damaging	Het
Cd109	T	C	9: 78,660,968	V310A	probably benign	Het
Chd9	G	A	8: 91,015,925		probably null	Het
Chmp2b	A	T	16: 65,540,430	I170N	probably damaging	Het
Cnp	G	T	11: 100,576,417	G62V	probably damaging	Het
Dcp2	C	A	18: 44,405,487	P206T	probably damaging	Het
Dhx57	A	T	17: 80,254,379	V902E	possibly damaging	Het
Dmwd	G	A	7: 19,080,438	V338M	probably damaging	Het
Eva1c	A	G	16: 90,904,251	D258G	probably benign	Het
Fam71e2	A	G	7: 4,758,450	V421A	probably damaging	Het
Flvcr2	T	A	12: 85,804,407	F448L	probably benign	Het
Gchfr	C	T	2: 119,169,706	H23Y	probably benign	Het
Gm11397	T	A	13: 33,404,318	D295E	probably benign	Het
Gm8251	C	G	1: 44,058,515	R1141T	possibly damaging	Het
Helz2	T	A	2: 181,230,126	M2617L	probably damaging	Het
Ighv5-9-1	A	T	12: 113,736,125	Y122*	probably null	Het
Lrrtm3	A	G	10: 63,930,266	I514T	probably benign	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,083,155		probably benign	Het
Obox5	A	T	7: 15,757,597	I21F	probably benign	Het
Olfr566	C	T	7: 102,857,207	G25D	possibly damaging	Het
P2rx2	T	C	5: 110,340,561	I376V	possibly damaging	Het
Ruvbl1	T	C	6: 88,473,096	I83T	possibly damaging	Het
Rwdd2a	T	C	9: 86,574,430	S220P	probably damaging	Het
Sf3b3	A	T	8: 110,838,215	D320E	probably benign	Het
Slc6a21	C	A	7: 45,288,429	L390I	possibly damaging	Het
Smarcd1	T	G	15: 99,703,295		probably null	Het
Sp1	T	A	15: 102,408,930	S295T	probably benign	Het
Tas2r104	T	A	6: 131,685,131	H205L	probably damaging	Het
Tmem69	C	G	4: 116,553,191	G194A	probably damaging	Het
Unc5c	G	T	3: 141,803,787	C676F	probably damaging	Het
Unkl	A	G	17: 25,205,713	N52S	probably benign	Het
Vmn1r233	T	C	17: 20,994,577	Y37C	possibly damaging	Het
Vmn1r57	A	G	7: 5,220,899	N141S	probably damaging	Het
Vmn2r50	T	C	7: 10,037,326	Y816C	probably damaging	Het
Vmn2r51	T	A	7: 10,092,201	S540C	probably damaging	Het

Other mutations in Poli

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Poli	APN	18	70525490	missense	probably damaging	1.00
IGL01506:Poli	APN	18	70509731	missense	probably benign
IGL01958:Poli	APN	18	70526586	missense	possibly damaging	0.46
IGL02375:Poli	APN	18	70523292	missense	probably damaging	1.00
IGL02385:Poli	APN	18	70526574	missense	possibly damaging	0.93
IGL02480:Poli	APN	18	70525406	missense	probably benign	0.04
R0113:Poli	UTSW	18	70528758	missense	probably damaging	1.00
R0184:Poli	UTSW	18	70522731	missense	probably damaging	1.00
R0348:Poli	UTSW	18	70523381	missense	probably benign	0.00
R0710:Poli	UTSW	18	70522890	splice site	probably null
R1004:Poli	UTSW	18	70525438	missense	probably benign	0.31
R1264:Poli	UTSW	18	70517503	missense	probably benign	0.05
R1660:Poli	UTSW	18	70509464	missense	probably damaging	0.99
R1992:Poli	UTSW	18	70508987	missense	probably damaging	0.98
R2915:Poli	UTSW	18	70522700	critical splice donor site	probably null
R4531:Poli	UTSW	18	70517477	missense	probably benign	0.41
R4816:Poli	UTSW	18	70522751	missense	probably damaging	1.00
R5393:Poli	UTSW	18	70517428	nonsense	probably null
R5404:Poli	UTSW	18	70509432	missense	probably benign	0.15
R5957:Poli	UTSW	18	70517440	missense	probably benign
R6045:Poli	UTSW	18	70517469	missense	possibly damaging	0.75
R6385:Poli	UTSW	18	70530001	start gained	probably benign
R6807:Poli	UTSW	18	70530151	splice site	probably null
R7024:Poli	UTSW	18	70516849	missense	possibly damaging	0.68
R7067:Poli	UTSW	18	70509417	nonsense	probably null
R7452:Poli	UTSW	18	70508978	missense	possibly damaging	0.94
R7653:Poli	UTSW	18	70509627	missense	probably benign
R7685:Poli	UTSW	18	70525519	missense	probably benign	0.13
R7857:Poli	UTSW	18	70509154	missense	probably benign	0.01
R7872:Poli	UTSW	18	70522820	missense	probably damaging	1.00
R9184:Poli	UTSW	18	70509179	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTTCTAGTCCCTGGTGAGAG -3'
(R):5'- TTAAGTTGTCCGCTGCATGCC -3'

Sequencing Primer
(F):5'- AGGCGGTGGCTGTCTGC -3'
(R):5'- TCCGCTGCATGCCTCTAGAG -3'

Posted On

2016-10-24