Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03153:Rev3l'

411168

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 #

IGL03153

Quality Score

Status

Chromosome

Chromosomal Location

39732118-39875211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39806878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 331 (F331I)

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: F331I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: F331I

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: F331I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: F331I

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,547,326 (GRCm38)	E419G	possibly damaging	Het
Abcg3	A	G	5: 104,974,765 (GRCm38)		probably benign	Het
Adam17	T	C	12: 21,345,697 (GRCm38)	D256G	probably damaging	Het
Adgrb3	G	A	1: 25,531,897 (GRCm38)	R500*	probably null	Het
Aldh3a2	A	G	11: 61,258,839 (GRCm38)	Y234H	probably damaging	Het
Alpk3	A	G	7: 81,093,395 (GRCm38)	T987A	probably benign	Het
Amtn	A	G	5: 88,384,969 (GRCm38)	K148E	possibly damaging	Het
Asap1	G	A	15: 64,160,274 (GRCm38)	T237M	probably damaging	Het
Ccdc124	A	T	8: 70,868,929 (GRCm38)		probably null	Het
Cdon	T	C	9: 35,477,959 (GRCm38)	Y787H	probably damaging	Het
Coro7	A	G	16: 4,635,382 (GRCm38)		probably null	Het
Dram2	T	A	3: 106,555,174 (GRCm38)		probably benign	Het
Drd5	T	C	5: 38,319,781 (GRCm38)	V39A	probably benign	Het
Ern1	A	G	11: 106,410,098 (GRCm38)	L490P	possibly damaging	Het
Fat1	A	G	8: 45,030,123 (GRCm38)	T3083A	possibly damaging	Het
Irgm1	A	G	11: 48,866,267 (GRCm38)	I239T	probably damaging	Het
Klhl10	A	T	11: 100,456,932 (GRCm38)	T605S	probably benign	Het
Lcor	T	A	19: 41,558,356 (GRCm38)	S126R	probably damaging	Het
Lgi4	G	T	7: 31,060,558 (GRCm38)	V60F	probably damaging	Het
Lin37	G	A	7: 30,557,160 (GRCm38)	R84W	probably damaging	Het
Lmf1	A	G	17: 25,585,650 (GRCm38)	S97G	possibly damaging	Het
Oasl2	A	G	5: 114,901,332 (GRCm38)	T194A	probably benign	Het
Olfr199	A	G	16: 59,216,203 (GRCm38)	S137P	probably benign	Het
Pnpo	A	T	11: 96,943,835 (GRCm38)	F12I	probably damaging	Het
Prdm4	T	C	10: 85,907,996 (GRCm38)	T132A	probably benign	Het
Ptbp2	T	C	3: 119,751,944 (GRCm38)	T118A	probably benign	Het
Ptf1a	T	A	2: 19,446,645 (GRCm38)		probably benign	Het
Rfx6	C	A	10: 51,723,121 (GRCm38)	S524*	probably null	Het
Scube3	A	G	17: 28,167,058 (GRCm38)	S758G	possibly damaging	Het
Slc44a2	T	C	9: 21,343,200 (GRCm38)	I257T	probably benign	Het
Spon1	A	T	7: 114,030,344 (GRCm38)	I408F	probably damaging	Het
Srpk1	C	A	17: 28,592,266 (GRCm38)	D541Y	possibly damaging	Het
Tenm4	A	T	7: 96,873,762 (GRCm38)	I1467F	probably damaging	Het
Tex33	T	C	15: 78,385,316 (GRCm38)	D188G	probably damaging	Het
Uggt1	A	C	1: 36,202,818 (GRCm38)	V345G	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,932 (GRCm38)	I287K	probably damaging	Het
Whamm	A	G	7: 81,589,532 (GRCm38)		probably benign	Het
Zeb1	A	G	18: 5,770,511 (GRCm38)	D888G	probably damaging	Het
Zfp263	A	G	16: 3,746,880 (GRCm38)	N253S	possibly damaging	Het
Zfp446	C	A	7: 12,977,907 (GRCm38)	A19E	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
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

2016-08-02