Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Rev3l'

660031

Institutional Source

Beutler Lab

Gene Symbol

Rev3l

Ensembl Gene

ENSMUSG00000019841

Gene Name

REV3 like, DNA directed polymerase zeta catalytic subunit

Synonyms

Sez4, Rev

MMRRC Submission

068517-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39732118-39875211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39806842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 319 (S319P)

Ref Sequence

ENSEMBL: ENSMUSP00000131519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019986] [ENSMUST00000131186] [ENSMUST00000164763]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019986
AA Change: S319P

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: S319P

Domain	Start	End	E-Value	Type
Pfam:DNA_pol_B_exo1	43	201	1.6e-10	PFAM
low complexity region	494	506	N/A	INTRINSIC
low complexity region	959	969	N/A	INTRINSIC
low complexity region	1042	1057	N/A	INTRINSIC
low complexity region	1205	1216	N/A	INTRINSIC
low complexity region	1424	1440	N/A	INTRINSIC
low complexity region	1569	1595	N/A	INTRINSIC
Blast:POLBc	1825	2243	1e-163	BLAST
PDB:4GK5\|D	1863	1895	4e-13	PDB
POLBc	2308	2783	5.32e-105	SMART
Blast:POLBc	2860	2926	2e-14	BLAST
Pfam:zf-C4pol	3034	3103	8.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131186

Predicted Effect

probably benign
Transcript: ENSMUST00000164763
AA Change: S319P

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: S319P

Domain	Start	End	E-Value	Type
Pfam:DNA_pol_B_exo1	43	200	1.3e-11	PFAM
low complexity region	494	506	N/A	INTRINSIC
Pfam:DUF4683	745	1132	1.7e-162	PFAM
low complexity region	1205	1216	N/A	INTRINSIC
low complexity region	1424	1440	N/A	INTRINSIC
low complexity region	1569	1595	N/A	INTRINSIC
Blast:POLBc	1825	2243	1e-163	BLAST
PDB:4GK5\|D	1863	1895	4e-13	PDB
POLBc	2308	2783	5.32e-105	SMART
Blast:POLBc	2860	2926	2e-14	BLAST
Pfam:zf-C4pol	3034	3102	6.1e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]
PHENOTYPE: Nullizygous mice exhibit complete embryonic lethality and abnormal embryonic tissue morphology with widespread degeneration and cell death. Mice carrying the amino acid substitution of phenylalanine for leucine at position 2610 display alterations in somatic hypermutation frequency and specificity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	G	A	13: 41,816,160 (GRCm38)	T89I	possibly damaging	Het
Aopep	T	A	13: 63,296,897 (GRCm38)	Y94N	possibly damaging	Het
Apc	T	C	18: 34,312,946 (GRCm38)	V947A	probably damaging	Het
Apob	A	C	12: 7,987,830 (GRCm38)	K334N	probably damaging	Het
Camk2d	A	T	3: 126,770,799 (GRCm38)	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,190,112 (GRCm38)	F98I	probably damaging	Het
Cd47	A	G	16: 49,867,941 (GRCm38)	T22A	probably benign	Het
Crat	A	G	2: 30,410,023 (GRCm38)	V115A	probably benign	Het
Csmd3	T	C	15: 47,644,142 (GRCm38)	M2992V	probably benign	Het
Dsg4	T	A	18: 20,453,043 (GRCm38)	N263K	probably damaging	Het
Eln	A	C	5: 134,710,110 (GRCm38)		probably benign	Het
Ep300	A	G	15: 81,639,027 (GRCm38)	E1284G	unknown	Het
Fam193a	T	A	5: 34,475,771 (GRCm38)	M122K	probably benign	Het
Fcgr1	A	T	3: 96,292,472 (GRCm38)	W40R	probably damaging	Het
Gm3486	T	A	14: 41,487,162 (GRCm38)	Q84L	probably damaging	Het
Golga2	G	A	2: 32,293,345 (GRCm38)	D80N	probably damaging	Het
Isg20	T	C	7: 78,916,677 (GRCm38)	Y125H	probably benign	Het
Kdf1	A	G	4: 133,528,877 (GRCm38)	I302V	probably damaging	Het
Kics2	T	A	10: 121,740,055 (GRCm38)	I27N	probably benign	Het
Krt33a	T	A	11: 100,012,383 (GRCm38)	T278S	possibly damaging	Het
Lrp1b	T	A	2: 41,344,483 (GRCm38)	Q1038L	probably benign	Het
Marchf6	G	A	15: 31,482,830 (GRCm38)	H476Y	probably damaging	Het
Myom1	A	G	17: 71,036,453 (GRCm38)	E215G	possibly damaging	Het
Or2aa1	A	T	11: 59,589,486 (GRCm38)	L201Q	possibly damaging	Het
Or2h15	T	A	17: 38,130,598 (GRCm38)	Q198L	probably damaging	Het
Or4c122	T	C	2: 89,249,251 (GRCm38)	T148A	possibly damaging	Het
Pate11	A	G	9: 36,476,492 (GRCm38)	I25V	probably benign	Het
Pdlim2	T	A	14: 70,171,249 (GRCm38)	T173S	probably benign	Het
Pitpnb	T	C	5: 111,346,506 (GRCm38)	M74T	probably benign	Het
Pou2f2	C	A	7: 25,115,556 (GRCm38)		probably benign	Het
Rab35	A	C	5: 115,645,631 (GRCm38)		probably null	Het
Rasef	A	T	4: 73,727,607 (GRCm38)	D508E	probably benign	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Rgl3	A	G	9: 21,988,863 (GRCm38)	S44P	probably benign	Het
Rnf214	C	A	9: 45,867,499 (GRCm38)		probably null	Het
Rpsa	T	C	9: 120,129,251 (GRCm38)	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923 (GRCm38)		probably benign	Het
Senp7	T	C	16: 56,158,610 (GRCm38)	V529A	probably benign	Het
Siglecg	C	T	7: 43,408,896 (GRCm38)	S69L	probably benign	Het
Sos1	G	T	17: 80,398,413 (GRCm38)	T1243K	probably damaging	Het
Tent5a	T	C	9: 85,326,731 (GRCm38)	D13G	possibly damaging	Het
Tlcd3a	A	G	11: 76,205,418 (GRCm38)	H124R	probably damaging	Het
Tmc2	A	G	2: 130,264,164 (GRCm38)	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,296,941 (GRCm38)	C107W	probably damaging	Het
Tnn	T	C	1: 160,110,416 (GRCm38)	Y913C	probably damaging	Het
Ttn	T	C	2: 76,738,032 (GRCm38)	T19179A	probably damaging	Het
Usp42	T	A	5: 143,720,382 (GRCm38)	K294N	probably damaging	Het
Vmn1r123	T	A	7: 21,163,046 (GRCm38)	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,308,206 (GRCm38)	*304K	probably null	Het
Vmn2r1	T	C	3: 64,089,913 (GRCm38)	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,364,131 (GRCm38)	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,946,752 (GRCm38)	I241M	probably benign	Het

Other mutations in Rev3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Rev3l	APN	10	39,806,969 (GRCm38)	missense	probably benign
IGL00815:Rev3l	APN	10	39,859,153 (GRCm38)	missense	possibly damaging	0.79
IGL00964:Rev3l	APN	10	39,864,806 (GRCm38)	missense	probably benign	0.39
IGL01765:Rev3l	APN	10	39,828,265 (GRCm38)	missense	probably benign	0.00
IGL01792:Rev3l	APN	10	39,823,340 (GRCm38)	missense	probably benign
IGL01950:Rev3l	APN	10	39,821,157 (GRCm38)	missense	probably damaging	1.00
IGL01963:Rev3l	APN	10	39,822,737 (GRCm38)	missense	possibly damaging	0.90
IGL02089:Rev3l	APN	10	39,825,099 (GRCm38)	missense	probably damaging	1.00
IGL02288:Rev3l	APN	10	39,828,216 (GRCm38)	missense	probably benign
IGL02381:Rev3l	APN	10	39,821,346 (GRCm38)	missense	possibly damaging	0.83
IGL02409:Rev3l	APN	10	39,821,148 (GRCm38)	missense	possibly damaging	0.75
IGL02434:Rev3l	APN	10	39,822,591 (GRCm38)	missense	probably damaging	1.00
IGL02570:Rev3l	APN	10	39,848,013 (GRCm38)	missense	possibly damaging	0.68
IGL02581:Rev3l	APN	10	39,821,281 (GRCm38)	missense	probably benign	0.10
IGL02654:Rev3l	APN	10	39,862,734 (GRCm38)	missense	probably damaging	1.00
IGL02720:Rev3l	APN	10	39,822,395 (GRCm38)	nonsense	probably null
IGL02746:Rev3l	APN	10	39,824,589 (GRCm38)	missense	probably damaging	0.99
IGL02829:Rev3l	APN	10	39,825,240 (GRCm38)	missense	probably damaging	1.00
IGL02961:Rev3l	APN	10	39,827,945 (GRCm38)	missense	possibly damaging	0.65
IGL02974:Rev3l	APN	10	39,862,747 (GRCm38)	nonsense	probably null
IGL03029:Rev3l	APN	10	39,828,486 (GRCm38)	missense	probably benign	0.34
IGL03153:Rev3l	APN	10	39,806,878 (GRCm38)	missense	probably damaging	1.00
IGL03172:Rev3l	APN	10	39,824,790 (GRCm38)	missense	probably benign	0.10
R0068:Rev3l	UTSW	10	39,824,831 (GRCm38)	missense	possibly damaging	0.68
R0068:Rev3l	UTSW	10	39,824,831 (GRCm38)	missense	possibly damaging	0.68
R0153:Rev3l	UTSW	10	39,874,128 (GRCm38)	nonsense	probably null
R0308:Rev3l	UTSW	10	39,824,894 (GRCm38)	missense	probably benign	0.09
R0355:Rev3l	UTSW	10	39,817,286 (GRCm38)	missense	probably damaging	1.00
R0513:Rev3l	UTSW	10	39,828,143 (GRCm38)	missense	probably benign	0.00
R0523:Rev3l	UTSW	10	39,848,049 (GRCm38)	missense	probably benign	0.02
R0559:Rev3l	UTSW	10	39,824,487 (GRCm38)	missense	probably damaging	1.00
R0761:Rev3l	UTSW	10	39,874,195 (GRCm38)	missense	probably benign	0.32
R1023:Rev3l	UTSW	10	39,832,639 (GRCm38)	missense	probably damaging	1.00
R1159:Rev3l	UTSW	10	39,851,925 (GRCm38)	nonsense	probably null
R1398:Rev3l	UTSW	10	39,821,583 (GRCm38)	missense	probably benign	0.05
R1478:Rev3l	UTSW	10	39,783,333 (GRCm38)	critical splice donor site	probably null
R1517:Rev3l	UTSW	10	39,838,443 (GRCm38)	missense	probably benign	0.34
R1527:Rev3l	UTSW	10	39,822,822 (GRCm38)	missense	probably damaging	1.00
R1635:Rev3l	UTSW	10	39,806,662 (GRCm38)	missense	probably damaging	0.98
R1695:Rev3l	UTSW	10	39,824,616 (GRCm38)	missense	probably damaging	0.97
R1695:Rev3l	UTSW	10	39,824,615 (GRCm38)	nonsense	probably null
R1782:Rev3l	UTSW	10	39,799,885 (GRCm38)	missense	probably benign
R1815:Rev3l	UTSW	10	39,822,871 (GRCm38)	missense	probably benign	0.41
R1818:Rev3l	UTSW	10	39,828,424 (GRCm38)	missense	probably benign	0.05
R2039:Rev3l	UTSW	10	39,824,444 (GRCm38)	missense	probably damaging	1.00
R2071:Rev3l	UTSW	10	39,824,353 (GRCm38)	missense	probably benign	0.17
R2101:Rev3l	UTSW	10	39,828,096 (GRCm38)	missense	probably benign	0.00
R2141:Rev3l	UTSW	10	39,848,049 (GRCm38)	missense	probably benign	0.02
R2883:Rev3l	UTSW	10	39,825,156 (GRCm38)	missense	probably damaging	1.00
R3787:Rev3l	UTSW	10	39,846,210 (GRCm38)	missense	probably damaging	0.97
R3910:Rev3l	UTSW	10	39,820,556 (GRCm38)	missense	probably damaging	1.00
R3912:Rev3l	UTSW	10	39,820,556 (GRCm38)	missense	probably damaging	1.00
R3913:Rev3l	UTSW	10	39,820,556 (GRCm38)	missense	probably damaging	1.00
R4590:Rev3l	UTSW	10	39,806,933 (GRCm38)	missense	probably damaging	1.00
R4631:Rev3l	UTSW	10	39,828,416 (GRCm38)	missense	probably benign	0.44
R4633:Rev3l	UTSW	10	39,846,186 (GRCm38)	missense	probably damaging	1.00
R4707:Rev3l	UTSW	10	39,823,397 (GRCm38)	missense	probably damaging	0.99
R4724:Rev3l	UTSW	10	39,846,806 (GRCm38)	nonsense	probably null
R4810:Rev3l	UTSW	10	39,823,725 (GRCm38)	missense	probably benign	0.01
R4857:Rev3l	UTSW	10	39,838,459 (GRCm38)	missense	probably damaging	1.00
R4882:Rev3l	UTSW	10	39,821,460 (GRCm38)	missense	possibly damaging	0.89
R4928:Rev3l	UTSW	10	39,823,985 (GRCm38)	missense	probably benign	0.30
R4970:Rev3l	UTSW	10	39,823,330 (GRCm38)	missense	probably benign	0.00
R4977:Rev3l	UTSW	10	39,823,578 (GRCm38)	missense	possibly damaging	0.80
R5112:Rev3l	UTSW	10	39,823,330 (GRCm38)	missense	probably benign	0.00
R5261:Rev3l	UTSW	10	39,846,729 (GRCm38)	missense	probably damaging	1.00
R5419:Rev3l	UTSW	10	39,824,931 (GRCm38)	missense	possibly damaging	0.95
R5570:Rev3l	UTSW	10	39,852,075 (GRCm38)	critical splice donor site	probably null
R5628:Rev3l	UTSW	10	39,822,967 (GRCm38)	missense	probably damaging	0.98
R5689:Rev3l	UTSW	10	39,794,958 (GRCm38)	missense	probably damaging	1.00
R5781:Rev3l	UTSW	10	39,823,093 (GRCm38)	missense	probably benign	0.00
R5829:Rev3l	UTSW	10	39,806,906 (GRCm38)	missense	probably damaging	0.97
R5984:Rev3l	UTSW	10	39,742,689 (GRCm38)	intron	probably benign
R5990:Rev3l	UTSW	10	39,823,811 (GRCm38)	missense	probably benign	0.17
R6054:Rev3l	UTSW	10	39,824,150 (GRCm38)	missense	probably benign	0.01
R6171:Rev3l	UTSW	10	39,862,713 (GRCm38)	nonsense	probably null
R6220:Rev3l	UTSW	10	39,822,779 (GRCm38)	missense	probably damaging	1.00
R6520:Rev3l	UTSW	10	39,822,702 (GRCm38)	missense	probably benign	0.06
R6798:Rev3l	UTSW	10	39,854,763 (GRCm38)	missense	probably damaging	1.00
R6811:Rev3l	UTSW	10	39,830,921 (GRCm38)	nonsense	probably null
R6812:Rev3l	UTSW	10	39,823,548 (GRCm38)	missense	probably benign
R6904:Rev3l	UTSW	10	39,821,481 (GRCm38)	missense	probably benign
R6905:Rev3l	UTSW	10	39,817,327 (GRCm38)	missense	probably benign	0.18
R6938:Rev3l	UTSW	10	39,862,710 (GRCm38)	missense	probably damaging	1.00
R7037:Rev3l	UTSW	10	39,851,975 (GRCm38)	missense	probably damaging	1.00
R7124:Rev3l	UTSW	10	39,822,167 (GRCm38)	nonsense	probably null
R7286:Rev3l	UTSW	10	39,823,605 (GRCm38)	missense	probably damaging	0.99
R7385:Rev3l	UTSW	10	39,823,682 (GRCm38)	missense	probably benign	0.01
R7575:Rev3l	UTSW	10	39,821,445 (GRCm38)	missense	possibly damaging	0.56
R7596:Rev3l	UTSW	10	39,821,538 (GRCm38)	missense	probably damaging	1.00
R7597:Rev3l	UTSW	10	39,822,884 (GRCm38)	missense	probably damaging	1.00
R7670:Rev3l	UTSW	10	39,836,722 (GRCm38)	missense	probably benign	0.01
R7804:Rev3l	UTSW	10	39,823,485 (GRCm38)	missense	probably benign	0.34
R7818:Rev3l	UTSW	10	39,823,902 (GRCm38)	missense	possibly damaging	0.54
R7874:Rev3l	UTSW	10	39,822,495 (GRCm38)	missense	possibly damaging	0.72
R7991:Rev3l	UTSW	10	39,863,738 (GRCm38)	missense	possibly damaging	0.52
R8059:Rev3l	UTSW	10	39,843,495 (GRCm38)	missense	probably damaging	1.00
R8174:Rev3l	UTSW	10	39,859,115 (GRCm38)	missense	probably damaging	1.00
R8187:Rev3l	UTSW	10	39,806,697 (GRCm38)	missense	probably benign
R8299:Rev3l	UTSW	10	39,821,541 (GRCm38)	missense	probably benign	0.01
R8352:Rev3l	UTSW	10	39,822,903 (GRCm38)	missense	probably damaging	1.00
R8452:Rev3l	UTSW	10	39,822,903 (GRCm38)	missense	probably damaging	1.00
R8468:Rev3l	UTSW	10	39,827,991 (GRCm38)	missense	probably damaging	0.99
R8487:Rev3l	UTSW	10	39,806,848 (GRCm38)	missense	probably damaging	1.00
R8512:Rev3l	UTSW	10	39,821,538 (GRCm38)	missense	probably damaging	1.00
R8702:Rev3l	UTSW	10	39,838,469 (GRCm38)	nonsense	probably null
R8848:Rev3l	UTSW	10	39,846,709 (GRCm38)	missense	probably damaging	0.99
R8857:Rev3l	UTSW	10	39,794,969 (GRCm38)	nonsense	probably null
R8870:Rev3l	UTSW	10	39,862,790 (GRCm38)	missense	probably damaging	1.00
R9094:Rev3l	UTSW	10	39,824,813 (GRCm38)	missense	probably benign
R9175:Rev3l	UTSW	10	39,854,768 (GRCm38)	missense	possibly damaging	0.83
R9286:Rev3l	UTSW	10	39,806,951 (GRCm38)	missense	possibly damaging	0.54
R9299:Rev3l	UTSW	10	39,848,003 (GRCm38)	missense	probably damaging	1.00
R9307:Rev3l	UTSW	10	39,817,153 (GRCm38)	missense	probably benign	0.01
R9337:Rev3l	UTSW	10	39,822,854 (GRCm38)	missense	probably benign	0.40
R9342:Rev3l	UTSW	10	39,821,462 (GRCm38)	missense	probably benign
R9389:Rev3l	UTSW	10	39,822,971 (GRCm38)	missense	possibly damaging	0.47
R9395:Rev3l	UTSW	10	39,859,223 (GRCm38)	critical splice donor site	probably null
R9458:Rev3l	UTSW	10	39,783,251 (GRCm38)	missense	probably damaging	1.00
R9481:Rev3l	UTSW	10	39,825,037 (GRCm38)	missense	probably benign
R9646:Rev3l	UTSW	10	39,822,444 (GRCm38)	missense	probably damaging	1.00
R9686:Rev3l	UTSW	10	39,867,388 (GRCm38)	missense	possibly damaging	0.67
X0022:Rev3l	UTSW	10	39,828,607 (GRCm38)	critical splice donor site	probably null
Z1088:Rev3l	UTSW	10	39,824,318 (GRCm38)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CAGATTTGTACCAGCAACAGAAAGTG -3'
(R):5'- GCCAAATACTAACATGAGTGTCC -3'

Sequencing Primer
(F):5'- TGTACCAGCAACAGAAAGTGAAAAAC -3'
(R):5'- CATGAGTGTCCAATGAAATGTTTG -3'

Posted On

2021-01-18