Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Poli'

697278

Institutional Source

Beutler Lab

Gene Symbol

Poli

Ensembl Gene

ENSMUSG00000038425

Gene Name

polymerase (DNA directed), iota

Synonyms

Rad30b

MMRRC Submission

068979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70641751-70663691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70642250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 650 (H650L)

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: H587L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039869
Gene: ENSMUSG00000038425
AA Change: H587L

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: H650L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112563
Gene: ENSMUSG00000038425
AA Change: H650L

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: H564L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123964
Gene: ENSMUSG00000038425
AA Change: H564L

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: H587L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124877
Gene: ENSMUSG00000038425
AA Change: H587L

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: 99.8%
20x: 99.4%

Validation Efficiency

97% (60/62)

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
6030452D12Rik	T	C	8: 107,233,901 (GRCm39)	V199A	unknown	Het
Abca7	A	G	10: 79,838,690 (GRCm39)	H621R	probably damaging	Het
Adam18	T	A	8: 25,137,847 (GRCm39)	N331I	probably benign	Het
Akt1	A	G	12: 112,621,152 (GRCm39)	S475P	possibly damaging	Het
Arc	A	G	15: 74,543,779 (GRCm39)	V148A	probably damaging	Het
Atg2a	T	C	19: 6,291,887 (GRCm39)	L21P	probably damaging	Het
Bltp2	T	C	11: 78,162,214 (GRCm39)	L692S	probably damaging	Het
C1qtnf2	T	C	11: 43,365,180 (GRCm39)	V25A	probably benign	Het
Cald1	G	T	6: 34,730,512 (GRCm39)	E244D	unknown	Het
Cdc42bpa	T	A	1: 179,972,301 (GRCm39)	F1368I	probably benign	Het
Cfap61	G	A	2: 145,919,308 (GRCm39)	C680Y	probably null	Het
Chd1	T	A	17: 15,962,551 (GRCm39)	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,470,908 (GRCm39)	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ctsb	G	T	14: 63,375,544 (GRCm39)	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,552 (GRCm39)	K2320E	probably benign	Het
Fat4	A	T	3: 39,036,592 (GRCm39)	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,706,488 (GRCm39)	S448P	probably damaging	Het
Filip1	T	C	9: 79,805,542 (GRCm39)	K71E	probably benign	Het
Gad2	G	A	2: 22,558,331 (GRCm39)	V350I	probably benign	Het
Gigyf2	T	A	1: 87,368,311 (GRCm39)	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,509,007 (GRCm39)	T326A	probably damaging	Het
Hspa9	C	T	18: 35,082,168 (GRCm39)	R146H	possibly damaging	Het
Jakmip2	A	G	18: 43,715,352 (GRCm39)	I58T	probably benign	Het
Kcnk15	G	A	2: 163,700,606 (GRCm39)	V282M	probably benign	Het
Klk1b8	A	G	7: 43,602,158 (GRCm39)	N30S	probably benign	Het
Lpin2	T	A	17: 71,540,911 (GRCm39)	Y454*	probably null	Het
Mcam	T	C	9: 44,046,545 (GRCm39)		probably benign	Het
Mms22l	T	C	4: 24,596,182 (GRCm39)	L1047S	probably damaging	Het
Neb	A	G	2: 52,218,767 (GRCm39)	I81T	possibly damaging	Het
Neurod4	A	T	10: 130,106,958 (GRCm39)	D105E	probably damaging	Het
Nlrp1b	A	G	11: 71,072,067 (GRCm39)	L592P	probably damaging	Het
Nnt	C	A	13: 119,518,270 (GRCm39)	K302N	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or4c103	C	A	2: 88,513,519 (GRCm39)	A186S	possibly damaging	Het
Or4c58	T	A	2: 89,675,294 (GRCm39)	I8F	probably benign	Het
Or7g16	T	C	9: 18,727,138 (GRCm39)	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,820,460 (GRCm39)	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143 (GRCm39)	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,724,249 (GRCm39)	N1275K	probably benign	Het
Pink1	G	T	4: 138,048,321 (GRCm39)	Q134K	probably benign	Het
Prickle2	G	A	6: 92,388,505 (GRCm39)	P355L	possibly damaging	Het
Prkaca	G	A	8: 84,717,305 (GRCm39)	G194D	probably benign	Het
Ptgs2	A	T	1: 149,980,175 (GRCm39)	Y371F	probably damaging	Het
Rarb	T	A	14: 16,818,882 (GRCm38)		probably benign	Het
Rarb	C	T	14: 16,818,881 (GRCm38)		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Serpinb1b	T	G	13: 33,269,393 (GRCm39)	V42G	probably damaging	Het
Sgsm2	T	A	11: 74,782,834 (GRCm39)	I41F	possibly damaging	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630 (GRCm39)	V602M	possibly damaging	Het
Slu7	T	C	11: 43,334,224 (GRCm39)	S417P	probably damaging	Het
Smad2	T	A	18: 76,422,171 (GRCm39)	D194E	probably benign	Het
Sntg1	A	T	1: 8,748,056 (GRCm39)	V112E	probably damaging	Het
Strip1	A	T	3: 107,521,979 (GRCm39)	M733K	probably benign	Het
Szt2	G	A	4: 118,241,726 (GRCm39)	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,599,949 (GRCm39)	I19075N	probably benign	Het
Urb2	C	T	8: 124,771,890 (GRCm39)	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,790,822 (GRCm39)	I159F	probably benign	Het
Zfp78	T	C	7: 6,382,300 (GRCm39)	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,743,475 (GRCm39)	H314L	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
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

Predicted Primers

PCR Primer
(F):5'- GGACCTCTTCTGGAAGCTCATAG -3'
(R):5'- AAGCGGGTATCAGCTGCATC -3'

Sequencing Primer
(F):5'- GCTCATAGAAAACTTGCGGATC -3'
(R):5'- AGCTGCATCTCCCTGTGAG -3'

Posted On

2022-02-07