Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Rev3l'

443581

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

043322-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39608114-39751207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39670954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 167 (Y167H)

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: Y167H

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

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: Y167H

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: Y167H

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

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: Y167H

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

Meta Mutation Damage Score

0.1050

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (63/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,051,412 (GRCm39)	C844F	probably benign	Het
Afdn	T	C	17: 14,075,621 (GRCm39)	V945A	probably damaging	Het
Aimp2	T	C	5: 143,843,389 (GRCm39)	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp11b	G	T	3: 35,888,501 (GRCm39)	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Cfb	T	A	17: 35,080,770 (GRCm39)	T76S	probably benign	Het
Cmpk2	A	T	12: 26,519,766 (GRCm39)	H139L	probably benign	Het
Cypt4	T	C	9: 24,536,542 (GRCm39)	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,282,519 (GRCm39)	F229L	probably damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,444,857 (GRCm39)	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716 (GRCm39)	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689 (GRCm39)	V263F	probably damaging	Het
Eno4	T	A	19: 58,959,088 (GRCm39)	D403E	probably benign	Het
Evi5l	C	T	8: 4,255,460 (GRCm39)	Q542*	probably null	Het
Fam135a	A	G	1: 24,068,134 (GRCm39)	S12P	probably benign	Het
Flnc	G	A	6: 29,441,591 (GRCm39)	A458T	probably benign	Het
Fnip1	T	C	11: 54,393,115 (GRCm39)	V517A	probably damaging	Het
Galc	G	T	12: 98,179,245 (GRCm39)	H361N	possibly damaging	Het
Gask1a	T	C	9: 121,794,754 (GRCm39)	F303L	probably damaging	Het
Gcnt1	T	A	19: 17,306,768 (GRCm39)	D319V	probably damaging	Het
Gm26996	T	C	6: 130,555,258 (GRCm39)		noncoding transcript	Het
Gm5321	A	T	7: 6,022,268 (GRCm39)		noncoding transcript	Het
Grin3b	T	C	10: 79,810,465 (GRCm39)	L657P	probably damaging	Het
Gstm5	T	C	3: 107,803,981 (GRCm39)	F54S	probably damaging	Het
Ilk	C	A	7: 105,390,857 (GRCm39)	L267I	probably benign	Het
Lifr	A	G	15: 7,214,285 (GRCm39)	Y713C	probably damaging	Het
Lnx2	A	T	5: 146,965,961 (GRCm39)	V386E	probably damaging	Het
Lrch1	T	C	14: 75,023,764 (GRCm39)	E587G	probably damaging	Het
Or10g3	C	T	14: 52,610,214 (GRCm39)	V99M	possibly damaging	Het
Osgin1	A	G	8: 120,171,728 (GRCm39)	*173W	probably null	Het
Pcdhga7	C	A	18: 37,849,736 (GRCm39)	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,599,683 (GRCm39)	L2384*	probably null	Het
Phf12	T	A	11: 77,914,551 (GRCm39)	N115K	probably damaging	Het
Pmel	A	G	10: 128,552,170 (GRCm39)	T335A	probably damaging	Het
Polr3e	C	A	7: 120,539,912 (GRCm39)	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,045,515 (GRCm39)	V164A	probably benign	Het
Rapsn	T	C	2: 90,866,269 (GRCm39)	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177 (GRCm38)	I334F	probably damaging	Het
Rnf146	T	C	10: 29,223,800 (GRCm39)	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc5a10	C	T	11: 61,598,710 (GRCm39)	M223I	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Slitrk6	C	T	14: 110,989,558 (GRCm39)	E50K	probably benign	Het
Smg8	A	G	11: 86,975,949 (GRCm39)	F544S	probably damaging	Het
Tnpo3	T	C	6: 29,571,063 (GRCm39)	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 53,007,651 (GRCm39)	R48H	probably damaging	Het
Trim50	A	T	5: 135,382,516 (GRCm39)	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,512,955 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,618,620 (GRCm39)	R14475S	probably damaging	Het
Uts2	A	T	4: 151,083,565 (GRCm39)	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,156,232 (GRCm39)	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,616,693 (GRCm39)	H537R	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Zfhx2	T	C	14: 55,311,360 (GRCm39)	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,906,054 (GRCm39)	V73A	probably damaging	Het

Other mutations in Rev3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Rev3l	APN	10	39,682,965 (GRCm39)	missense	probably benign
IGL00815:Rev3l	APN	10	39,735,149 (GRCm39)	missense	possibly damaging	0.79
IGL00964:Rev3l	APN	10	39,740,802 (GRCm39)	missense	probably benign	0.39
IGL01765:Rev3l	APN	10	39,704,261 (GRCm39)	missense	probably benign	0.00
IGL01792:Rev3l	APN	10	39,699,336 (GRCm39)	missense	probably benign
IGL01950:Rev3l	APN	10	39,697,153 (GRCm39)	missense	probably damaging	1.00
IGL01963:Rev3l	APN	10	39,698,733 (GRCm39)	missense	possibly damaging	0.90
IGL02089:Rev3l	APN	10	39,701,095 (GRCm39)	missense	probably damaging	1.00
IGL02288:Rev3l	APN	10	39,704,212 (GRCm39)	missense	probably benign
IGL02381:Rev3l	APN	10	39,697,342 (GRCm39)	missense	possibly damaging	0.83
IGL02409:Rev3l	APN	10	39,697,144 (GRCm39)	missense	possibly damaging	0.75
IGL02434:Rev3l	APN	10	39,698,587 (GRCm39)	missense	probably damaging	1.00
IGL02570:Rev3l	APN	10	39,724,009 (GRCm39)	missense	possibly damaging	0.68
IGL02581:Rev3l	APN	10	39,697,277 (GRCm39)	missense	probably benign	0.10
IGL02654:Rev3l	APN	10	39,738,730 (GRCm39)	missense	probably damaging	1.00
IGL02720:Rev3l	APN	10	39,698,391 (GRCm39)	nonsense	probably null
IGL02746:Rev3l	APN	10	39,700,585 (GRCm39)	missense	probably damaging	0.99
IGL02829:Rev3l	APN	10	39,701,236 (GRCm39)	missense	probably damaging	1.00
IGL02961:Rev3l	APN	10	39,703,941 (GRCm39)	missense	possibly damaging	0.65
IGL02974:Rev3l	APN	10	39,738,743 (GRCm39)	nonsense	probably null
IGL03029:Rev3l	APN	10	39,704,482 (GRCm39)	missense	probably benign	0.34
IGL03153:Rev3l	APN	10	39,682,874 (GRCm39)	missense	probably damaging	1.00
IGL03172:Rev3l	APN	10	39,700,786 (GRCm39)	missense	probably benign	0.10
R0068:Rev3l	UTSW	10	39,700,827 (GRCm39)	missense	possibly damaging	0.68
R0068:Rev3l	UTSW	10	39,700,827 (GRCm39)	missense	possibly damaging	0.68
R0153:Rev3l	UTSW	10	39,750,124 (GRCm39)	nonsense	probably null
R0308:Rev3l	UTSW	10	39,700,890 (GRCm39)	missense	probably benign	0.09
R0355:Rev3l	UTSW	10	39,693,282 (GRCm39)	missense	probably damaging	1.00
R0513:Rev3l	UTSW	10	39,704,139 (GRCm39)	missense	probably benign	0.00
R0523:Rev3l	UTSW	10	39,724,045 (GRCm39)	missense	probably benign	0.02
R0559:Rev3l	UTSW	10	39,700,483 (GRCm39)	missense	probably damaging	1.00
R0761:Rev3l	UTSW	10	39,750,191 (GRCm39)	missense	probably benign	0.32
R1023:Rev3l	UTSW	10	39,708,635 (GRCm39)	missense	probably damaging	1.00
R1159:Rev3l	UTSW	10	39,727,921 (GRCm39)	nonsense	probably null
R1398:Rev3l	UTSW	10	39,697,579 (GRCm39)	missense	probably benign	0.05
R1478:Rev3l	UTSW	10	39,659,329 (GRCm39)	critical splice donor site	probably null
R1517:Rev3l	UTSW	10	39,714,439 (GRCm39)	missense	probably benign	0.34
R1527:Rev3l	UTSW	10	39,698,818 (GRCm39)	missense	probably damaging	1.00
R1635:Rev3l	UTSW	10	39,682,658 (GRCm39)	missense	probably damaging	0.98
R1695:Rev3l	UTSW	10	39,700,612 (GRCm39)	missense	probably damaging	0.97
R1695:Rev3l	UTSW	10	39,700,611 (GRCm39)	nonsense	probably null
R1782:Rev3l	UTSW	10	39,675,881 (GRCm39)	missense	probably benign
R1815:Rev3l	UTSW	10	39,698,867 (GRCm39)	missense	probably benign	0.41
R1818:Rev3l	UTSW	10	39,704,420 (GRCm39)	missense	probably benign	0.05
R2039:Rev3l	UTSW	10	39,700,440 (GRCm39)	missense	probably damaging	1.00
R2071:Rev3l	UTSW	10	39,700,349 (GRCm39)	missense	probably benign	0.17
R2101:Rev3l	UTSW	10	39,704,092 (GRCm39)	missense	probably benign	0.00
R2141:Rev3l	UTSW	10	39,724,045 (GRCm39)	missense	probably benign	0.02
R2883:Rev3l	UTSW	10	39,701,152 (GRCm39)	missense	probably damaging	1.00
R3787:Rev3l	UTSW	10	39,722,206 (GRCm39)	missense	probably damaging	0.97
R3910:Rev3l	UTSW	10	39,696,552 (GRCm39)	missense	probably damaging	1.00
R3912:Rev3l	UTSW	10	39,696,552 (GRCm39)	missense	probably damaging	1.00
R3913:Rev3l	UTSW	10	39,696,552 (GRCm39)	missense	probably damaging	1.00
R4590:Rev3l	UTSW	10	39,682,929 (GRCm39)	missense	probably damaging	1.00
R4631:Rev3l	UTSW	10	39,704,412 (GRCm39)	missense	probably benign	0.44
R4633:Rev3l	UTSW	10	39,722,182 (GRCm39)	missense	probably damaging	1.00
R4707:Rev3l	UTSW	10	39,699,393 (GRCm39)	missense	probably damaging	0.99
R4724:Rev3l	UTSW	10	39,722,802 (GRCm39)	nonsense	probably null
R4810:Rev3l	UTSW	10	39,699,721 (GRCm39)	missense	probably benign	0.01
R4857:Rev3l	UTSW	10	39,714,455 (GRCm39)	missense	probably damaging	1.00
R4882:Rev3l	UTSW	10	39,697,456 (GRCm39)	missense	possibly damaging	0.89
R4928:Rev3l	UTSW	10	39,699,981 (GRCm39)	missense	probably benign	0.30
R4970:Rev3l	UTSW	10	39,699,326 (GRCm39)	missense	probably benign	0.00
R4977:Rev3l	UTSW	10	39,699,574 (GRCm39)	missense	possibly damaging	0.80
R5112:Rev3l	UTSW	10	39,699,326 (GRCm39)	missense	probably benign	0.00
R5261:Rev3l	UTSW	10	39,722,725 (GRCm39)	missense	probably damaging	1.00
R5419:Rev3l	UTSW	10	39,700,927 (GRCm39)	missense	possibly damaging	0.95
R5570:Rev3l	UTSW	10	39,728,071 (GRCm39)	critical splice donor site	probably null
R5628:Rev3l	UTSW	10	39,698,963 (GRCm39)	missense	probably damaging	0.98
R5781:Rev3l	UTSW	10	39,699,089 (GRCm39)	missense	probably benign	0.00
R5829:Rev3l	UTSW	10	39,682,902 (GRCm39)	missense	probably damaging	0.97
R5984:Rev3l	UTSW	10	39,618,685 (GRCm39)	intron	probably benign
R5990:Rev3l	UTSW	10	39,699,807 (GRCm39)	missense	probably benign	0.17
R6054:Rev3l	UTSW	10	39,700,146 (GRCm39)	missense	probably benign	0.01
R6171:Rev3l	UTSW	10	39,738,709 (GRCm39)	nonsense	probably null
R6220:Rev3l	UTSW	10	39,698,775 (GRCm39)	missense	probably damaging	1.00
R6520:Rev3l	UTSW	10	39,698,698 (GRCm39)	missense	probably benign	0.06
R6798:Rev3l	UTSW	10	39,730,759 (GRCm39)	missense	probably damaging	1.00
R6811:Rev3l	UTSW	10	39,706,917 (GRCm39)	nonsense	probably null
R6812:Rev3l	UTSW	10	39,699,544 (GRCm39)	missense	probably benign
R6904:Rev3l	UTSW	10	39,697,477 (GRCm39)	missense	probably benign
R6905:Rev3l	UTSW	10	39,693,323 (GRCm39)	missense	probably benign	0.18
R6938:Rev3l	UTSW	10	39,738,706 (GRCm39)	missense	probably damaging	1.00
R7037:Rev3l	UTSW	10	39,727,971 (GRCm39)	missense	probably damaging	1.00
R7124:Rev3l	UTSW	10	39,698,163 (GRCm39)	nonsense	probably null
R7286:Rev3l	UTSW	10	39,699,601 (GRCm39)	missense	probably damaging	0.99
R7385:Rev3l	UTSW	10	39,699,678 (GRCm39)	missense	probably benign	0.01
R7575:Rev3l	UTSW	10	39,697,441 (GRCm39)	missense	possibly damaging	0.56
R7596:Rev3l	UTSW	10	39,697,534 (GRCm39)	missense	probably damaging	1.00
R7597:Rev3l	UTSW	10	39,698,880 (GRCm39)	missense	probably damaging	1.00
R7670:Rev3l	UTSW	10	39,712,718 (GRCm39)	missense	probably benign	0.01
R7804:Rev3l	UTSW	10	39,699,481 (GRCm39)	missense	probably benign	0.34
R7818:Rev3l	UTSW	10	39,699,898 (GRCm39)	missense	possibly damaging	0.54
R7874:Rev3l	UTSW	10	39,698,491 (GRCm39)	missense	possibly damaging	0.72
R7991:Rev3l	UTSW	10	39,739,734 (GRCm39)	missense	possibly damaging	0.52
R8059:Rev3l	UTSW	10	39,719,491 (GRCm39)	missense	probably damaging	1.00
R8174:Rev3l	UTSW	10	39,735,111 (GRCm39)	missense	probably damaging	1.00
R8187:Rev3l	UTSW	10	39,682,693 (GRCm39)	missense	probably benign
R8299:Rev3l	UTSW	10	39,697,537 (GRCm39)	missense	probably benign	0.01
R8352:Rev3l	UTSW	10	39,698,899 (GRCm39)	missense	probably damaging	1.00
R8452:Rev3l	UTSW	10	39,698,899 (GRCm39)	missense	probably damaging	1.00
R8468:Rev3l	UTSW	10	39,703,987 (GRCm39)	missense	probably damaging	0.99
R8487:Rev3l	UTSW	10	39,682,844 (GRCm39)	missense	probably damaging	1.00
R8512:Rev3l	UTSW	10	39,697,534 (GRCm39)	missense	probably damaging	1.00
R8554:Rev3l	UTSW	10	39,682,838 (GRCm39)	missense	probably benign	0.12
R8702:Rev3l	UTSW	10	39,714,465 (GRCm39)	nonsense	probably null
R8848:Rev3l	UTSW	10	39,722,705 (GRCm39)	missense	probably damaging	0.99
R8857:Rev3l	UTSW	10	39,670,965 (GRCm39)	nonsense	probably null
R8870:Rev3l	UTSW	10	39,738,786 (GRCm39)	missense	probably damaging	1.00
R9094:Rev3l	UTSW	10	39,700,809 (GRCm39)	missense	probably benign
R9175:Rev3l	UTSW	10	39,730,764 (GRCm39)	missense	possibly damaging	0.83
R9286:Rev3l	UTSW	10	39,682,947 (GRCm39)	missense	possibly damaging	0.54
R9299:Rev3l	UTSW	10	39,723,999 (GRCm39)	missense	probably damaging	1.00
R9307:Rev3l	UTSW	10	39,693,149 (GRCm39)	missense	probably benign	0.01
R9337:Rev3l	UTSW	10	39,698,850 (GRCm39)	missense	probably benign	0.40
R9342:Rev3l	UTSW	10	39,697,458 (GRCm39)	missense	probably benign
R9389:Rev3l	UTSW	10	39,698,967 (GRCm39)	missense	possibly damaging	0.47
R9395:Rev3l	UTSW	10	39,735,219 (GRCm39)	critical splice donor site	probably null
R9458:Rev3l	UTSW	10	39,659,247 (GRCm39)	missense	probably damaging	1.00
R9481:Rev3l	UTSW	10	39,701,033 (GRCm39)	missense	probably benign
R9646:Rev3l	UTSW	10	39,698,440 (GRCm39)	missense	probably damaging	1.00
R9686:Rev3l	UTSW	10	39,743,384 (GRCm39)	missense	possibly damaging	0.67
X0022:Rev3l	UTSW	10	39,704,603 (GRCm39)	critical splice donor site	probably null
Z1088:Rev3l	UTSW	10	39,700,314 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AAGGGCTGGCTCCATCTTG -3'
(R):5'- ATAGTCTCAAACCCTGCTCTCAG -3'

Sequencing Primer
(F):5'- ACTGCCAGGCCTAGGATGAATTTC -3'
(R):5'- TCAGCATTTCTCTATTCTTTATCCAC -3'

Posted On

2016-11-09