Mutagenetix > Incidental Mutation

Incidental Mutation 'R7685:Poli'

593048

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

045750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70641751-70663691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70658590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 134 (E134G)

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 benign
Transcript: ENSMUST00000043286
AA Change: E71G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: E71G

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 benign
Transcript: ENSMUST00000121674
AA Change: E134G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: E134G

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 benign
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
AA Change: E71G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125467
Gene: ENSMUSG00000038425
AA Change: E71G

Domain	Start	End	E-Value	Type
Pfam:IMS	1	127	5.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161542
AA Change: E71G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: E71G

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

99% (79/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,116,081 (GRCm39)	L251S	probably damaging	Het
Acsbg1	C	T	9: 54,535,843 (GRCm39)	S53N	unknown	Het
Adamts18	A	G	8: 114,439,855 (GRCm39)	C913R	probably damaging	Het
Adck5	C	A	15: 76,479,588 (GRCm39)	Y524*	probably null	Het
Adgrv1	G	T	13: 81,251,443 (GRCm39)	Q6225K	possibly damaging	Het
Ahr	T	C	12: 35,554,016 (GRCm39)	N701S	probably damaging	Het
Apc	T	C	18: 34,447,261 (GRCm39)	C1386R	probably damaging	Het
Bbs1	A	G	19: 4,956,182 (GRCm39)	S38P	probably benign	Het
Celsr1	G	T	15: 85,862,933 (GRCm39)	C1366*	probably null	Het
Cep290	A	C	10: 100,375,919 (GRCm39)	H1424P	probably benign	Het
Clcn3	C	T	8: 61,386,119 (GRCm39)	R311K	possibly damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Dhx9	A	G	1: 153,334,152 (GRCm39)	Y1002H	probably damaging	Het
Dnah8	C	T	17: 30,876,947 (GRCm39)	T533I	probably damaging	Het
Ermard	T	C	17: 15,279,724 (GRCm39)	S505P	probably benign	Het
Fbxw17	G	A	13: 50,579,680 (GRCm39)	D166N	probably damaging	Het
Fmo3	T	C	1: 162,785,901 (GRCm39)	K363R	possibly damaging	Het
Frey1	C	A	2: 92,213,817 (GRCm39)	P68Q	probably damaging	Het
Gadd45gip1	A	T	8: 85,558,980 (GRCm39)	R21W	probably damaging	Het
Galnt4	A	G	10: 98,945,826 (GRCm39)	N517S	probably benign	Het
Ganc	T	A	2: 120,264,273 (GRCm39)	W409R	probably damaging	Het
Glrx3	T	C	7: 137,060,920 (GRCm39)	S185P	probably damaging	Het
Gm49368	T	C	7: 127,712,414 (GRCm39)	S853P	probably damaging	Het
Gtf3c2	A	C	5: 31,325,611 (GRCm39)	L443V	probably damaging	Het
Gxylt2	A	T	6: 100,781,489 (GRCm39)	Q388L	probably benign	Het
Hcar2	C	T	5: 124,003,396 (GRCm39)	V36M	possibly damaging	Het
Ifit3b	A	T	19: 34,589,955 (GRCm39)	D377V	possibly damaging	Het
Ints5	A	G	19: 8,874,168 (GRCm39)	D709G	probably benign	Het
Lyst	A	G	13: 13,844,450 (GRCm39)	E1880G	probably benign	Het
Mep1a	C	T	17: 43,790,065 (GRCm39)	S428N	probably benign	Het
Mllt6	T	C	11: 97,567,790 (GRCm39)	L739P	probably damaging	Het
Mlst8	T	C	17: 24,695,031 (GRCm39)	Y284C	probably damaging	Het
Mmel1	T	C	4: 154,956,111 (GRCm39)	M1T	probably null	Het
Muc5ac	C	T	7: 141,363,120 (GRCm39)	P2144S	unknown	Het
Myh4	T	C	11: 67,131,756 (GRCm39)	V72A	probably benign	Het
Naa15	T	A	3: 51,377,395 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,248,028 (GRCm39)		probably null	Het
Nme8	T	A	13: 19,835,145 (GRCm39)	M514L	probably benign	Het
Nudt9	C	A	5: 104,194,946 (GRCm39)	S14*	probably null	Het
Optn	G	A	2: 5,059,461 (GRCm39)	T19I	probably benign	Het
Or11h23	A	T	14: 50,948,215 (GRCm39)	I143F	possibly damaging	Het
Or13a24	T	C	7: 140,154,159 (GRCm39)	F31S	probably damaging	Het
Osbpl8	T	A	10: 111,112,370 (GRCm39)	L495*	probably null	Het
Panx2	T	C	15: 88,951,973 (GRCm39)	S147P	possibly damaging	Het
Pclo	T	A	5: 14,730,630 (GRCm39)	V3044D	unknown	Het
Pcnt	T	C	10: 76,258,642 (GRCm39)	K608E	probably benign	Het
Pde7a	T	A	3: 19,281,909 (GRCm39)	N447I	probably damaging	Het
Peli2	G	T	14: 48,517,491 (GRCm39)	C186F	not run	Het
Pgm5	A	G	19: 24,705,215 (GRCm39)	F433L	probably benign	Het
Plce1	G	A	19: 38,736,877 (GRCm39)	V1588I	probably benign	Het
Plin4	T	A	17: 56,409,413 (GRCm39)	H1295L	probably benign	Het
Pramel11	T	A	4: 143,624,371 (GRCm39)	D42V	probably benign	Het
Ptprq	T	A	10: 107,479,839 (GRCm39)	I1144F	probably damaging	Het
Ptprz1	A	T	6: 23,024,977 (GRCm39)	T1738S	probably damaging	Het
Pxdc1	A	G	13: 34,836,267 (GRCm39)	L51P	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rhd	T	A	4: 134,611,820 (GRCm39)		probably null	Het
Rpp14	T	C	14: 8,090,453 (GRCm38)	S126P	probably damaging	Het
Scn7a	C	T	2: 66,506,536 (GRCm39)	C1451Y	probably damaging	Het
Sdr39u1	G	A	14: 56,135,191 (GRCm39)	R251*	probably null	Het
Sephs2	G	T	7: 126,872,506 (GRCm39)	P196T	possibly damaging	Het
Slc22a16	T	C	10: 40,450,085 (GRCm39)	Y195H	possibly damaging	Het
Spg11	C	A	2: 121,899,361 (GRCm39)	V1575F	probably damaging	Het
Sqle	C	T	15: 59,187,890 (GRCm39)	S66L	probably benign	Het
Tas2r124	T	G	6: 132,732,056 (GRCm39)	W122G	probably damaging	Het
Tex52	A	T	6: 128,361,921 (GRCm39)		probably null	Het
Thoc1	T	A	18: 9,993,454 (GRCm39)	C604*	probably null	Het
Tmc3	T	C	7: 83,246,666 (GRCm39)	S136P	probably damaging	Het
Tmem212	T	A	3: 27,950,462 (GRCm39)	T11S	probably benign	Het
Ubn2	A	G	6: 38,468,727 (GRCm39)	N1147S	probably benign	Het
Uggt2	A	G	14: 119,312,759 (GRCm39)	I350T	probably damaging	Het
Ust	A	T	10: 8,083,339 (GRCm39)	Y346N	probably damaging	Het
Vwa8	A	G	14: 79,335,740 (GRCm39)	T1399A	probably benign	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp800	C	A	6: 28,244,193 (GRCm39)	K257N	probably damaging	Het
Zfp985	T	A	4: 147,667,331 (GRCm39)	D66E	probably benign	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
R0184:Poli	UTSW	18	70,655,802 (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
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'- TGCACTTACAGTCACCGAGG -3'
(R):5'- TTGTCCAAGATGCTGTGCGG -3'

Sequencing Primer
(F):5'- AGTCACCGAGGGGGCTC -3'
(R):5'- CTCAGCTGTTAAGAGCACTGACTG -3'

Posted On

2019-11-12