Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00815:Rev3l'

13805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rev3l

Ensembl Gene

ENSMUSG00000019841

Gene Name

REV3 like, DNA directed polymerase zeta catalytic subunit

Synonyms

Sez4, Rev

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00815

Quality Score

Status

Chromosome

Chromosomal Location

39732118-39875211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39859153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2792 (I2792V)

Ref Sequence

ENSEMBL: ENSMUSP00000131519 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019986
AA Change: I2792V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: I2792V

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

noncoding transcript
Transcript: ENSMUST00000123103

Predicted Effect

probably benign
Transcript: ENSMUST00000131186

Predicted Effect

probably benign
Transcript: ENSMUST00000139803

SMART Domains

Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164763
AA Change: I2792V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: I2792V

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	G	2: 121,151,218 (GRCm38)		probably benign	Het
Arhgap20	A	G	9: 51,849,413 (GRCm38)	N819D	probably benign	Het
Cenpe	A	G	3: 135,259,351 (GRCm38)	I2061V	probably benign	Het
Chrna4	T	C	2: 181,029,391 (GRCm38)	I191V	probably benign	Het
Crim1	A	G	17: 78,370,091 (GRCm38)	E907G	probably damaging	Het
Cyp2d9	T	A	15: 82,456,375 (GRCm38)	D175E	possibly damaging	Het
Eml4	A	G	17: 83,450,790 (GRCm38)		probably benign	Het
Faim	G	A	9: 98,992,165 (GRCm38)	G15R	probably damaging	Het
Fam3c	A	T	6: 22,318,948 (GRCm38)	D151E	probably damaging	Het
Far1	G	A	7: 113,540,689 (GRCm38)	V115I	probably benign	Het
Gfap	T	C	11: 102,888,690 (GRCm38)	D427G	possibly damaging	Het
Hdac5	A	G	11: 102,197,342 (GRCm38)	F934S	probably damaging	Het
Hyou1	A	G	9: 44,385,146 (GRCm38)	E456G	probably benign	Het
Kl	G	A	5: 150,980,850 (GRCm38)	E356K	possibly damaging	Het
Morc1	T	C	16: 48,460,692 (GRCm38)	I198T	possibly damaging	Het
Mroh9	C	T	1: 163,039,131 (GRCm38)	V679M	probably damaging	Het
Pigr	T	A	1: 130,834,430 (GRCm38)	M1K	probably null	Het
Pkn3	C	A	2: 30,081,200 (GRCm38)	P260T	possibly damaging	Het
Pld5	T	G	1: 176,140,019 (GRCm38)	D28A	probably damaging	Het
Plekhg2	G	A	7: 28,360,869 (GRCm38)	Q1012*	probably null	Het
Ppp1ca	A	G	19: 4,193,144 (GRCm38)	I104V	probably benign	Het
Rad21l	A	G	2: 151,667,989 (GRCm38)	V64A	probably damaging	Het
Rbm20	A	G	19: 53,815,517 (GRCm38)	D427G	probably damaging	Het
Sec23a	C	T	12: 58,992,282 (GRCm38)	C248Y	possibly damaging	Het
Sf3b1	A	T	1: 54,996,931 (GRCm38)		probably benign	Het
Slc30a1	A	G	1: 191,909,079 (GRCm38)	N279S	probably damaging	Het
Slit2	G	A	5: 47,989,151 (GRCm38)	E95K	possibly damaging	Het
Spic	T	C	10: 88,675,867 (GRCm38)	N176D	probably damaging	Het
Tlk2	C	T	11: 105,246,795 (GRCm38)	Q184*	probably null	Het
Tpm4	T	C	8: 72,143,503 (GRCm38)	I107T	probably benign	Het
Ttll11	A	T	2: 35,902,720 (GRCm38)	C186*	probably null	Het
Txlnb	A	T	10: 17,842,963 (GRCm38)	H514L	probably damaging	Het
Zfpm2	T	A	15: 41,099,491 (GRCm38)	M183K	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
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
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

Posted On

2012-12-06