Mutagenetix > Incidental Mutation

Incidental Mutation 'R8487:Rev3l'

657800

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

067930-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8487 (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 A at 39806848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 321 (S321T)

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 damaging
Transcript: ENSMUST00000019986
AA Change: S321T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: S321T

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 damaging
Transcript: ENSMUST00000164763
AA Change: S321T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: S321T

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: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,859,486 (GRCm38)	I153V	probably benign	Het
Arhgap21	A	C	2: 20,881,305 (GRCm38)	S354A	probably benign	Het
Bcan	T	C	3: 87,989,209 (GRCm38)	T727A	probably damaging	Het
Brinp1	C	T	4: 68,829,455 (GRCm38)	G137E	probably damaging	Het
Catsperd	A	G	17: 56,663,419 (GRCm38)	Y697C	probably damaging	Het
Ccdc39	T	A	3: 33,832,659 (GRCm38)	K267*	probably null	Het
Ccdc47	C	A	11: 106,202,145 (GRCm38)	V92L	possibly damaging	Het
Cyp2c54	A	T	19: 40,071,546 (GRCm38)	I181N	probably damaging	Het
Ddx60	A	T	8: 61,974,150 (GRCm38)	D753V	probably damaging	Het
Dlg2	A	T	7: 92,286,588 (GRCm38)	K641N	probably damaging	Het
Eloa	G	A	4: 136,009,357 (GRCm38)	R527C	probably benign	Het
Fancd2	C	T	6: 113,568,226 (GRCm38)	P835L	probably damaging	Het
Fbln2	C	G	6: 91,250,864 (GRCm38)	T428S	probably damaging	Het
Fbn2	G	A	18: 58,020,390 (GRCm38)	A2600V	possibly damaging	Het
Gbe1	A	G	16: 70,436,988 (GRCm38)	Y251C	probably damaging	Het
Gnptab	T	A	10: 88,432,646 (GRCm38)		probably null	Het
Hspa1a	T	A	17: 34,972,057 (GRCm38)		probably benign	Het
Ifi204	G	A	1: 173,760,273 (GRCm38)	P107S	probably damaging	Het
Kif6	A	G	17: 49,671,136 (GRCm38)	I119V	probably damaging	Het
Lmntd2	G	A	7: 141,210,514 (GRCm38)	H554Y	probably benign	Het
Lrrc8e	C	A	8: 4,234,218 (GRCm38)	H148N	probably damaging	Het
Lrriq1	T	C	10: 103,215,053 (GRCm38)	N613D	probably damaging	Het
Map4k4	C	T	1: 39,988,976 (GRCm38)	T319M	probably damaging	Het
Mbtps1	C	T	8: 119,541,674 (GRCm38)	V253I	probably damaging	Het
Mcm4	C	A	16: 15,632,178 (GRCm38)	C330F	probably damaging	Het
Mok	A	G	12: 110,809,907 (GRCm38)		probably null	Het
Nedd4	T	C	9: 72,670,039 (GRCm38)	C49R	probably damaging	Het
Nlrp4e	T	C	7: 23,321,558 (GRCm38)	V490A	probably benign	Het
Nsf	A	T	11: 103,928,758 (GRCm38)	F27I	probably damaging	Het
Or10g3b	A	T	14: 52,349,239 (GRCm38)	L269Q	probably damaging	Het
Or14c44	A	G	7: 86,412,439 (GRCm38)	S26G	probably benign	Het
Or4a47	T	C	2: 89,835,265 (GRCm38)	N227D	probably benign	Het
Or5p73	G	T	7: 108,465,577 (GRCm38)	M84I	possibly damaging	Het
Or6c66	A	G	10: 129,625,245 (GRCm38)	I272T	possibly damaging	Het
Pax1	A	G	2: 147,365,048 (GRCm38)	M1V	probably null	Het
Pcdhga12	A	G	18: 37,767,578 (GRCm38)	T488A	probably damaging	Het
Plekhh2	A	G	17: 84,557,481 (GRCm38)	D99G	possibly damaging	Het
Polr3h	T	C	15: 81,916,623 (GRCm38)	T173A	probably benign	Het
Pramel6	C	T	2: 87,508,701 (GRCm38)	L82F	probably damaging	Het
Ralgapa2	A	T	2: 146,388,543 (GRCm38)	I1034N	probably damaging	Het
Rbfox1	G	A	16: 7,224,455 (GRCm38)	V58I	probably damaging	Het
Reln	T	A	5: 21,899,029 (GRCm38)	I3315L	probably benign	Het
Ryr1	T	C	7: 29,040,867 (GRCm38)	T3908A	probably damaging	Het
Secisbp2l	G	T	2: 125,775,582 (GRCm38)	Y58*	probably null	Het
Sgms1	C	A	19: 32,125,297 (GRCm38)	V337L	probably benign	Het
Slc38a2	G	A	15: 96,695,291 (GRCm38)	Q136*	probably null	Het
Smarcd1	T	A	15: 99,707,776 (GRCm38)	V296D	probably damaging	Het
Smcr8	A	C	11: 60,783,996 (GRCm38)	H866P	probably damaging	Het
Spcs1	T	A	14: 31,000,764 (GRCm38)	I33L	probably benign	Het
Stxbp5	T	C	10: 9,812,289 (GRCm38)	R423G	possibly damaging	Het
Syt4	A	T	18: 31,443,737 (GRCm38)	M188K	possibly damaging	Het
Tchhl1	A	G	3: 93,469,562 (GRCm38)	D22G	probably damaging	Het
Tiparp	T	A	3: 65,546,234 (GRCm38)	N134K	probably benign	Het
Topaz1	A	G	9: 122,749,936 (GRCm38)	D637G	possibly damaging	Het
Trav14d-3-dv8	A	T	14: 53,078,735 (GRCm38)		probably benign	Het
Vmn1r19	A	T	6: 57,405,181 (GRCm38)	M240L	probably benign	Het
Vmn1r77	T	A	7: 12,041,587 (GRCm38)	S29T	probably damaging	Het
Vps13d	A	G	4: 145,155,247 (GRCm38)	F1253L	probably benign	Het
Zfp407	G	A	18: 84,562,770 (GRCm38)	R73*	probably null	Het
Zfp446	T	A	7: 12,982,628 (GRCm38)	F334I	possibly damaging	Het
Zfp654	A	T	16: 64,785,648 (GRCm38)	Y730*	probably null	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
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'- CAGATTTGTACCAGCAACAGAAAG -3'
(R):5'- GCCAAATACTAACATGAGTGTCC -3'

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

Posted On

2021-01-18