Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Poli'

608210

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70508680-70530620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70522820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 281 (L281P)

Ref Sequence

ENSEMBL: ENSMUSP00000112563 (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: L218P

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

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: L218P

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: L281P

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

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: L281P

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: L195P

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

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: L195P

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: L218P

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

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: L218P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,439	D290N	probably damaging	Het
Adam18	T	C	8: 24,611,100	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,843	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,665,386	K305I	probably damaging	Het
Atrn	T	A	2: 130,970,227		probably null	Het
Bambi	A	T	18: 3,511,406	T76S	probably benign	Het
Cacna1a	T	A	8: 84,583,654	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Clcn2	A	G	16: 20,708,460	M629T	probably damaging	Het
Clcn4	T	C	7: 7,287,781	N673S	probably benign	Het
Col20a1	T	C	2: 180,986,578	F15S	probably benign	Het
Col2a1	G	A	15: 98,000,577	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,684	D556A	probably damaging	Het
Edar	C	T	10: 58,610,526	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,448,360	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699	V471I	not run	Het
Fer1l5	T	C	1: 36,421,886	F2032L	probably benign	Het
Gm5150	A	C	3: 16,006,321	M1R	probably null	Het
Grin1	T	C	2: 25,298,190	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,704,929		probably benign	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,966,275	Y74H	probably damaging	Het
Kpna1	T	C	16: 36,023,195	V313A	probably benign	Het
Lrp4	C	T	2: 91,490,716	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,353,462	C3S	probably damaging	Het
Lyst	C	A	13: 13,635,865	H707N	probably benign	Het
Map3k20	A	G	2: 72,371,754	K148R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mocs1	T	A	17: 49,439,533	I177N	probably damaging	Het
Muc5b	A	G	7: 141,846,113	D441G	unknown	Het
Ncoa1	T	C	12: 4,278,186	N884S	probably benign	Het
Olfr33	A	G	7: 102,714,182	V77A	probably benign	Het
Olfr533	A	G	7: 140,466,783	N194S	probably damaging	Het
Padi6	A	T	4: 140,727,762	F621L	probably damaging	Het
Pde8b	C	A	13: 95,086,839	M197I	possibly damaging	Het
Pear1	T	A	3: 87,752,215	I771L	probably benign	Het
Prdm12	T	C	2: 31,640,219	W41R	probably damaging	Het
Prkdc	T	G	16: 15,715,006	S1500A	probably benign	Het
Prune2	T	A	19: 17,119,434	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,234,544	Q196*	probably null	Het
Rnpc3	A	T	3: 113,622,447	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724	M1V	probably null	Het
Ryr2	T	A	13: 11,595,724	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,125,365	H314R	probably damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc37a3	A	T	6: 39,347,310	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,706,492	H9Q	probably benign	Het
Tnrc6a	T	A	7: 123,179,834	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,909	N126S	probably damaging	Het
Ubr4	T	C	4: 139,393,062	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,069,737	V424A	possibly damaging	Het
Utrn	T	C	10: 12,698,129	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,556,234	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,220,614	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 20,101,914	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,221,353	H118L	probably benign	Het
Zcchc11	T	G	4: 108,517,518	C933G	probably damaging	Het
Zfp775	A	G	6: 48,620,470	K426R	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
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
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
R9184:Poli	UTSW	18	70509179	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGATCACTCACAAGCTGC -3'
(R):5'- ACAAGACTTTGAGTGGTGCC -3'

Sequencing Primer
(F):5'- GGTGAACAGGAAAGCAGACATCTTC -3'
(R):5'- TGGTGCCCTGGAGCCATATG -3'

Posted On

2019-12-20