Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Poli'

24009

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0184 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

70641751-70663691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70655802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

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 damaging
Transcript: ENSMUST00000043286
AA Change: S248P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: S248P

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 damaging
Transcript: ENSMUST00000121674
AA Change: S311P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: S311P

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 damaging
Transcript: ENSMUST00000159389
AA Change: S225P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: S225P

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 damaging
Transcript: ENSMUST00000161542
AA Change: S248P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: S248P

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

0.4003

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,316,101 (GRCm39)	N443I	probably benign	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Klk1	C	T	7: 43,878,173 (GRCm39)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim25	C	T	11: 88,890,466 (GRCm39)	P51L	probably damaging	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Twf1	T	A	15: 94,478,948 (GRCm39)		probably null	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,469,863 (GRCm39)	M86T	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Vrk2	C	A	11: 26,500,046 (GRCm39)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het

Other mutations in Poli

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Poli	APN	18	70,658,561 (GRCm39)	missense	probably damaging	1.00
IGL01506:Poli	APN	18	70,642,802 (GRCm39)	missense	probably benign
IGL01958:Poli	APN	18	70,659,657 (GRCm39)	missense	possibly damaging	0.46
IGL02375:Poli	APN	18	70,656,363 (GRCm39)	missense	probably damaging	1.00
IGL02385:Poli	APN	18	70,659,645 (GRCm39)	missense	possibly damaging	0.93
IGL02480:Poli	APN	18	70,658,477 (GRCm39)	missense	probably benign	0.04
R0113:Poli	UTSW	18	70,661,829 (GRCm39)	missense	probably damaging	1.00
R0348:Poli	UTSW	18	70,656,452 (GRCm39)	missense	probably benign	0.00
R0710:Poli	UTSW	18	70,655,961 (GRCm39)	splice site	probably null
R1004:Poli	UTSW	18	70,658,509 (GRCm39)	missense	probably benign	0.31
R1264:Poli	UTSW	18	70,650,574 (GRCm39)	missense	probably benign	0.05
R1660:Poli	UTSW	18	70,642,535 (GRCm39)	missense	probably damaging	0.99
R1992:Poli	UTSW	18	70,642,058 (GRCm39)	missense	probably damaging	0.98
R2915:Poli	UTSW	18	70,655,771 (GRCm39)	critical splice donor site	probably null
R4531:Poli	UTSW	18	70,650,548 (GRCm39)	missense	probably benign	0.41
R4816:Poli	UTSW	18	70,655,822 (GRCm39)	missense	probably damaging	1.00
R5393:Poli	UTSW	18	70,650,499 (GRCm39)	nonsense	probably null
R5404:Poli	UTSW	18	70,642,503 (GRCm39)	missense	probably benign	0.15
R5559:Poli	UTSW	18	70,642,356 (GRCm39)	missense	probably benign	0.02
R5957:Poli	UTSW	18	70,650,511 (GRCm39)	missense	probably benign
R6045:Poli	UTSW	18	70,650,540 (GRCm39)	missense	possibly damaging	0.75
R6385:Poli	UTSW	18	70,663,072 (GRCm39)	start gained	probably benign
R6807:Poli	UTSW	18	70,663,222 (GRCm39)	splice site	probably null
R7024:Poli	UTSW	18	70,649,920 (GRCm39)	missense	possibly damaging	0.68
R7067:Poli	UTSW	18	70,642,488 (GRCm39)	nonsense	probably null
R7452:Poli	UTSW	18	70,642,049 (GRCm39)	missense	possibly damaging	0.94
R7653:Poli	UTSW	18	70,642,698 (GRCm39)	missense	probably benign
R7685:Poli	UTSW	18	70,658,590 (GRCm39)	missense	probably benign	0.13
R7857:Poli	UTSW	18	70,642,225 (GRCm39)	missense	probably benign	0.01
R7872:Poli	UTSW	18	70,655,891 (GRCm39)	missense	probably damaging	1.00
R9184:Poli	UTSW	18	70,642,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTGAACAAACTACACTGCCTCG -3'
(R):5'- TCGGCTATAAAACTGCCAAGCGTC -3'

Sequencing Primer
(F):5'- ACTACTAGCGGGCAAGTTTC -3'
(R):5'- CCAAGCGTCTCGAAGTTCTG -3'

Posted On

2013-04-16