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

70508680-70530620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70522731 bp (GRCm38)

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: 124,419,250 (GRCm38)	V131F	probably damaging	Het
Adam28	T	C	14: 68,637,373 (GRCm38)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,194,056 (GRCm38)	E36G	probably damaging	Het
Antxr2	A	G	5: 97,980,030 (GRCm38)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,617,673 (GRCm38)	D46E	unknown	Het
Armc9	T	C	1: 86,198,370 (GRCm38)	L61P	probably damaging	Het
Bicc1	C	A	10: 71,079,215 (GRCm38)	R73L	probably benign	Het
Calm2	T	C	17: 87,435,841 (GRCm38)	N43S	probably benign	Het
Cct7	A	G	6: 85,461,554 (GRCm38)	D105G	probably null	Het
Cdk18	T	C	1: 132,118,538 (GRCm38)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,395 (GRCm38)	T205A	probably benign	Het
Cfap57	A	T	4: 118,599,012 (GRCm38)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 26,187,007 (GRCm38)	C152*	probably null	Het
Dab2ip	G	A	2: 35,718,791 (GRCm38)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,683,683 (GRCm38)	V905A	probably benign	Het
Eif4h	C	A	5: 134,625,375 (GRCm38)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,299,216 (GRCm38)	S372T	probably benign	Het
Fat2	T	A	11: 55,296,288 (GRCm38)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,008,673 (GRCm38)	N443I	probably benign	Het
Git2	G	A	5: 114,739,037 (GRCm38)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,845,258 (GRCm38)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,967,614 (GRCm38)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,909,969 (GRCm38)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,718,931 (GRCm38)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,953,771 (GRCm38)		probably null	Het
Iars	T	G	13: 49,722,212 (GRCm38)	S792A	probably benign	Het
Igf1r	A	G	7: 68,226,193 (GRCm38)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,205,606 (GRCm38)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,376,305 (GRCm38)		probably benign	Het
Ints13	A	T	6: 146,555,044 (GRCm38)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm38)	S797A	probably benign	Het
Itgad	T	A	7: 128,189,231 (GRCm38)	D405E	probably benign	Het
Itgam	A	T	7: 128,086,058 (GRCm38)	I448F	probably damaging	Het
Klk1	C	T	7: 44,228,749 (GRCm38)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,544,884 (GRCm38)	M1V	probably null	Het
Mdga1	A	G	17: 29,852,442 (GRCm38)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,464,971 (GRCm38)	R604L	probably benign	Het
Olfr1170	A	T	2: 88,224,780 (GRCm38)	L84*	probably null	Het
Olfr656	T	C	7: 104,618,240 (GRCm38)	V187A	probably damaging	Het
Pcdhb7	T	A	18: 37,343,390 (GRCm38)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,889,128 (GRCm38)	D139G	probably damaging	Het
Pkp3	A	C	7: 141,088,367 (GRCm38)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,356,220 (GRCm38)	S524T	probably benign	Het
Pno1	T	C	11: 17,211,127 (GRCm38)	E69G	probably benign	Het
Pold1	C	T	7: 44,541,715 (GRCm38)	V231M	probably benign	Het
Ppox	C	T	1: 171,279,552 (GRCm38)	S138N	probably damaging	Het
Psg20	T	C	7: 18,685,976 (GRCm38)	E6G	probably null	Het
Rbmx	C	T	X: 57,391,566 (GRCm38)		probably null	Het
Rln1	T	A	19: 29,331,936 (GRCm38)	K148*	probably null	Het
Rnf213	C	T	11: 119,414,521 (GRCm38)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,799,093 (GRCm38)	V904E	probably null	Het
Sf3b2	T	A	19: 5,283,672 (GRCm38)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,507,189 (GRCm38)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,692,249 (GRCm38)	Y973*	probably null	Het
Spink5	G	A	18: 44,003,198 (GRCm38)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,997,574 (GRCm38)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,675,562 (GRCm38)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,852,300 (GRCm38)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,430,964 (GRCm38)	K45R	probably benign	Het
Tirap	A	G	9: 35,189,194 (GRCm38)	S65P	probably benign	Het
Trim25	C	T	11: 88,999,640 (GRCm38)	P51L	probably damaging	Het
Trim61	T	C	8: 65,014,417 (GRCm38)	N64S	probably benign	Het
Twf1	T	A	15: 94,581,067 (GRCm38)		probably null	Het
Ubr4	A	C	4: 139,445,262 (GRCm38)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,562,581 (GRCm38)	M86T	probably damaging	Het
Utrn	T	C	10: 12,667,618 (GRCm38)	D1762G	probably benign	Het
V1rd19	T	A	7: 24,003,207 (GRCm38)	F33I	probably benign	Het
Vmn2r52	T	C	7: 10,159,338 (GRCm38)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,726,877 (GRCm38)	W472*	probably null	Het
Vrk2	C	A	11: 26,550,046 (GRCm38)	A56S	probably damaging	Het
Yeats2	C	T	16: 20,203,685 (GRCm38)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,950,513 (GRCm38)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm38)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm38)	I253T	probably damaging	Het

Other mutations in Poli

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Poli	APN	18	70,525,490 (GRCm38)	missense	probably damaging	1.00
IGL01506:Poli	APN	18	70,509,731 (GRCm38)	missense	probably benign
IGL01958:Poli	APN	18	70,526,586 (GRCm38)	missense	possibly damaging	0.46
IGL02375:Poli	APN	18	70,523,292 (GRCm38)	missense	probably damaging	1.00
IGL02385:Poli	APN	18	70,526,574 (GRCm38)	missense	possibly damaging	0.93
IGL02480:Poli	APN	18	70,525,406 (GRCm38)	missense	probably benign	0.04
R0113:Poli	UTSW	18	70,528,758 (GRCm38)	missense	probably damaging	1.00
R0348:Poli	UTSW	18	70,523,381 (GRCm38)	missense	probably benign	0.00
R0710:Poli	UTSW	18	70,522,890 (GRCm38)	splice site	probably null
R1004:Poli	UTSW	18	70,525,438 (GRCm38)	missense	probably benign	0.31
R1264:Poli	UTSW	18	70,517,503 (GRCm38)	missense	probably benign	0.05
R1660:Poli	UTSW	18	70,509,464 (GRCm38)	missense	probably damaging	0.99
R1992:Poli	UTSW	18	70,508,987 (GRCm38)	missense	probably damaging	0.98
R2915:Poli	UTSW	18	70,522,700 (GRCm38)	critical splice donor site	probably null
R4531:Poli	UTSW	18	70,517,477 (GRCm38)	missense	probably benign	0.41
R4816:Poli	UTSW	18	70,522,751 (GRCm38)	missense	probably damaging	1.00
R5393:Poli	UTSW	18	70,517,428 (GRCm38)	nonsense	probably null
R5404:Poli	UTSW	18	70,509,432 (GRCm38)	missense	probably benign	0.15
R5559:Poli	UTSW	18	70,509,285 (GRCm38)	missense	probably benign	0.02
R5957:Poli	UTSW	18	70,517,440 (GRCm38)	missense	probably benign
R6045:Poli	UTSW	18	70,517,469 (GRCm38)	missense	possibly damaging	0.75
R6385:Poli	UTSW	18	70,530,001 (GRCm38)	start gained	probably benign
R6807:Poli	UTSW	18	70,530,151 (GRCm38)	splice site	probably null
R7024:Poli	UTSW	18	70,516,849 (GRCm38)	missense	possibly damaging	0.68
R7067:Poli	UTSW	18	70,509,417 (GRCm38)	nonsense	probably null
R7452:Poli	UTSW	18	70,508,978 (GRCm38)	missense	possibly damaging	0.94
R7653:Poli	UTSW	18	70,509,627 (GRCm38)	missense	probably benign
R7685:Poli	UTSW	18	70,525,519 (GRCm38)	missense	probably benign	0.13
R7857:Poli	UTSW	18	70,509,154 (GRCm38)	missense	probably benign	0.01
R7872:Poli	UTSW	18	70,522,820 (GRCm38)	missense	probably damaging	1.00
R9184:Poli	UTSW	18	70,509,179 (GRCm38)	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