Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Poli'

577833

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 #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70508680-70530620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70508978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 717 (V717A)

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

possibly damaging
Transcript: ENSMUST00000043286
AA Change: V654A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: V654A

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

possibly damaging
Transcript: ENSMUST00000121674
AA Change: V717A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: V717A

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

possibly damaging
Transcript: ENSMUST00000159389
AA Change: V631A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: V631A

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

possibly damaging
Transcript: ENSMUST00000161542
AA Change: V654A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: V654A

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: 98.8%

Validation Efficiency

100% (75/75)

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
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	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
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'- AGTGAGAGCCTAGTGTTGACC -3'
(R):5'- CTCCACACATCGCACTGTAG -3'

Sequencing Primer
(F):5'- GAGCCTAGTGTTGACCATGATATTCC -3'
(R):5'- CTGGATTCTGCGGAAGAA -3'

Posted On

2019-10-07