Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Poli'

98011

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

039114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70508680-70530620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70525438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 75 (Q75L)

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: Q98L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: Q98L

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: Q161L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: Q161L

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: Q75L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: Q75L

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
AA Change: Q98L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
AA Change: Q98L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161542
AA Change: Q98L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: Q98L

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

Meta Mutation Damage Score

0.2524

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

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
Abca9	A	G	11: 110,151,954	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,803,451	E453V	probably damaging	Het
Agxt	A	G	1: 93,135,699	M108V	possibly damaging	Het
Akap13	T	C	7: 75,687,286	I831T	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arid1a	A	G	4: 133,687,275	M1215T	unknown	Het
Cd163	G	T	6: 124,325,347	D957Y	probably damaging	Het
Ces2e	A	G	8: 104,929,738	D200G	probably damaging	Het
Cfap54	T	C	10: 93,066,696		probably benign	Het
Col11a1	A	G	3: 114,095,022		probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dpp4	T	A	2: 62,332,640	Q754L	probably benign	Het
Ece1	A	G	4: 137,926,239	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544	V779M	possibly damaging	Het
Gatm	C	T	2: 122,609,660		probably benign	Het
Gm20767	T	A	13: 120,155,022	D132E	probably benign	Het
Gpc2	A	G	5: 138,278,225	L213P	probably damaging	Het
Hook1	A	C	4: 96,022,287	N713H	probably benign	Het
Kdm5b	T	A	1: 134,588,904	I178K	possibly damaging	Het
Mettl9	G	A	7: 121,076,237	V287I	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,140,917	T3774I	probably benign	Het
Nupl1	C	A	14: 60,247,481		probably benign	Het
Nxf1	A	T	19: 8,764,317	T119S	probably benign	Het
Oaz3	T	A	3: 94,435,043	H102L	probably damaging	Het
Olfr971	T	C	9: 39,839,980	F182S	probably benign	Het
Pfpl	A	T	19: 12,430,425	Q680L	probably benign	Het
Ppp2r3a	C	T	9: 101,198,630		probably null	Het
Prr30	A	G	14: 101,199,093	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,377,602	Y345F	probably benign	Het
Ric1	A	G	19: 29,602,357	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,334,242		probably benign	Het
Sh3bgrl2	C	T	9: 83,577,631		probably benign	Het
Skp1a	G	C	11: 52,237,380		probably benign	Het
Slc12a9	T	C	5: 137,322,524	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,618,399	N35S	probably damaging	Het
Xrcc5	A	G	1: 72,383,778		probably benign	Het
Zfp235	T	A	7: 24,140,744	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,196,533		probably benign	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
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
R5559:Poli	UTSW	18	70509285	missense	probably benign	0.02
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'- GAATCCTTGACGAGACTGGCAAGAC -3'
(R):5'- GAGGACCTTGTCCAAGATGCTGTG -3'

Sequencing Primer
(F):5'- ACTGGCAAGACTTCATTTTGGC -3'
(R):5'- cacacacacaatactacacagac -3'

Posted On

2014-01-05