Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Rev3l'

592101

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

045742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39732118-39875211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39836722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2382 (T2382I)

Ref Sequence

ENSEMBL: ENSMUSP00000019986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019986] [ENSMUST00000131186] [ENSMUST00000139803] [ENSMUST00000164763]

AlphaFold

no structure available at present

PDB Structure

Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000019986
AA Change: T2382I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: T2382I

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: ENSMUST00000139803
AA Change: T508I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841
AA Change: T508I

Domain	Start	End	E-Value	Type
Blast:POLBc	1	369	1e-155	BLAST
POLBc	434	805	4.77e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164763
AA Change: T2382I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: T2382I

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091 (GRCm38)	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153 (GRCm38)	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372 (GRCm38)	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582 (GRCm38)	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925 (GRCm38)	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093 (GRCm38)	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039 (GRCm38)	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306 (GRCm38)	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081 (GRCm38)	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205 (GRCm38)	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340 (GRCm38)	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643 (GRCm38)	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614 (GRCm38)	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792 (GRCm38)	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232 (GRCm38)		probably null	Het
Dnah7b	T	A	1: 46,109,302 (GRCm38)	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834 (GRCm38)	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419 (GRCm38)	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491 (GRCm38)	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928 (GRCm38)	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384 (GRCm38)	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754 (GRCm38)	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347 (GRCm38)	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122 (GRCm38)	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087 (GRCm38)	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432 (GRCm38)	N154D	not run	Het
Lcp1	A	T	14: 75,200,431 (GRCm38)	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691 (GRCm38)	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690 (GRCm38)	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446 (GRCm38)	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015 (GRCm38)	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746 (GRCm38)	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829 (GRCm38)	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974 (GRCm38)		probably null	Het
Nuggc	A	G	14: 65,613,526 (GRCm38)	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696 (GRCm38)	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759 (GRCm38)	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207 (GRCm38)	K235E	probably damaging	Het
Otud4	T	A	8: 79,655,864 (GRCm38)		probably null	Het
Pcdhb18	T	C	18: 37,491,696 (GRCm38)	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182 (GRCm38)	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344 (GRCm38)	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207 (GRCm38)	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793 (GRCm38)	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040 (GRCm38)		probably benign	Het
Rnf31	A	G	14: 55,594,361 (GRCm38)	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572 (GRCm38)	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033 (GRCm38)	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266 (GRCm38)	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997 (GRCm38)	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865 (GRCm38)	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424 (GRCm38)	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868 (GRCm38)	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477 (GRCm38)	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620 (GRCm38)	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867 (GRCm38)	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769 (GRCm38)	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708 (GRCm38)	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573 (GRCm38)	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877 (GRCm38)	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796 (GRCm38)	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076 (GRCm38)		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
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
R8554:Rev3l	UTSW	10	39,806,842 (GRCm38)	missense	probably benign	0.12
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'- CAAGGACATTTTCAAGTAGTTGGAC -3'
(R):5'- CCCGTATTTGATGGACTGGGAC -3'

Sequencing Primer
(F):5'- CATTTTCAAGTAGTTGGACTATTGGG -3'
(R):5'- ATTTGATGGACTGGGACTGAGGAC -3'

Posted On

2019-11-12