Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Poli'

254871

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70508680-70530620 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 70522700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124877 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043286

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425

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 null
Transcript: ENSMUST00000121674

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425

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 null
Transcript: ENSMUST00000159389

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425

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 null
Transcript: ENSMUST00000161542

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425

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

0.9492

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	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
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'- TGCTAACTGGGTAATTATCCCCTC -3'
(R):5'- AACTGCCAAGCGTCTCGAAG -3'

Sequencing Primer
(F):5'- CCACTTTCCAAATCACTGAATTAGTC -3'
(R):5'- CGTCTCGAAGTTCTGGGAATCAATAG -3'

Posted On

2014-12-29