Mutagenetix > Incidental Mutation

Incidental Mutation 'R4590:Rev3l'

342758

Institutional Source

Beutler Lab

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 #

R4590 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39608114-39751207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39682929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 349 (C349Y)

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: C349Y

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

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: C349Y

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: C349Y

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

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: C349Y

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	A	18: 36,716,697 (GRCm39)	D201E	probably damaging	Het
Ano10	T	A	9: 122,086,231 (GRCm39)	Q398L	probably benign	Het
Ap3d1	A	T	10: 80,555,646 (GRCm39)	L319*	probably null	Het
Cacna1e	T	C	1: 154,312,265 (GRCm39)	M1575V	possibly damaging	Het
Cep192	T	A	18: 67,949,862 (GRCm39)	Y315*	probably null	Het
Cndp2	C	A	18: 84,687,933 (GRCm39)	V353F	probably damaging	Het
Ctsq	T	A	13: 61,184,028 (GRCm39)	N298I	probably benign	Het
Dnah6	A	T	6: 73,129,695 (GRCm39)	C1173S	probably damaging	Het
Dnah9	T	C	11: 65,931,218 (GRCm39)	M1993V	probably damaging	Het
Dnhd1	T	C	7: 105,363,237 (GRCm39)	V3933A	probably damaging	Het
Dnpep	C	A	1: 75,293,045 (GRCm39)	V76L	probably damaging	Het
Dsc3	A	C	18: 20,122,752 (GRCm39)	C57W	probably damaging	Het
Dtx3	A	G	10: 127,028,564 (GRCm39)	S222P	probably damaging	Het
Eml5	T	C	12: 98,803,600 (GRCm39)	Y1009C	possibly damaging	Het
Fam169a	A	G	13: 97,234,093 (GRCm39)	I122V	probably benign	Het
Fgr	T	A	4: 132,722,364 (GRCm39)	V211E	probably damaging	Het
Flvcr1	T	C	1: 190,744,343 (GRCm39)	T402A	probably benign	Het
Frmd5	C	T	2: 121,595,512 (GRCm39)		probably null	Het
Fut2	T	C	7: 45,300,370 (GRCm39)	N134S	possibly damaging	Het
Gm10110	A	T	14: 90,134,982 (GRCm39)		noncoding transcript	Het
Gm7275	A	T	16: 47,893,982 (GRCm39)		noncoding transcript	Het
Gm904	T	A	13: 50,799,285 (GRCm39)	C81*	probably null	Het
Herc1	T	A	9: 66,344,946 (GRCm39)	V1913E	probably damaging	Het
Hnmt	T	C	2: 23,909,111 (GRCm39)		probably null	Het
Ift172	T	C	5: 31,411,299 (GRCm39)	E1643G	probably damaging	Het
Inpp4b	T	A	8: 82,468,040 (GRCm39)	M1K	probably null	Het
Keap1	G	T	9: 21,148,905 (GRCm39)	A34D	probably damaging	Het
Krt25	T	C	11: 99,208,854 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,865,410 (GRCm39)	V2916A	probably benign	Het
Ly9	G	A	1: 171,421,443 (GRCm39)	Q603*	probably null	Het
Mis18bp1	A	C	12: 65,205,280 (GRCm39)	N14K	possibly damaging	Het
Mmrn1	G	T	6: 60,937,797 (GRCm39)	C265F	probably damaging	Het
Mrgprb5	C	T	7: 47,817,809 (GRCm39)	E309K	probably benign	Het
Nrtn	T	C	17: 57,058,504 (GRCm39)	T166A	probably damaging	Het
Odr4	A	G	1: 150,262,103 (GRCm39)		probably null	Het
Or8g50	T	C	9: 39,648,146 (GRCm39)	F12L	probably damaging	Het
Osbpl7	T	A	11: 96,947,098 (GRCm39)	S266R	probably damaging	Het
Pcdhb11	T	C	18: 37,555,549 (GRCm39)	I293T	probably damaging	Het
Pes1	A	G	11: 3,927,986 (GRCm39)	Y546C	probably damaging	Het
Pth1r	A	T	9: 110,551,339 (GRCm39)	W587R	probably benign	Het
Rasgrf2	A	G	13: 92,174,789 (GRCm39)	Y147H	probably damaging	Het
Rbbp8	T	A	18: 11,865,322 (GRCm39)	L737*	probably null	Het
Rcor3	A	T	1: 191,810,217 (GRCm39)	F153L	probably damaging	Het
Rnf115	C	T	3: 96,695,889 (GRCm39)	T225M	probably benign	Het
Rnf157	A	G	11: 116,250,098 (GRCm39)	V200A	probably damaging	Het
Scfd2	T	C	5: 74,372,917 (GRCm39)	T653A	probably benign	Het
Sdccag8	T	C	1: 176,775,858 (GRCm39)	Y590H	probably damaging	Het
Sema4d	T	A	13: 51,877,654 (GRCm39)	K59N	probably benign	Het
Serpinb7	C	A	1: 107,379,563 (GRCm39)	H323Q	probably damaging	Het
Setx	T	A	2: 29,034,821 (GRCm39)	H435Q	probably damaging	Het
Sgk3	T	C	1: 9,969,020 (GRCm39)	S466P	possibly damaging	Het
Sgsm2	T	C	11: 74,741,958 (GRCm39)	M1011V	probably damaging	Het
Ssc4d	G	A	5: 135,993,538 (GRCm39)	P106L	probably benign	Het
Taf7	T	C	18: 37,775,784 (GRCm39)	Q261R	possibly damaging	Het
Tbc1d2b	T	C	9: 90,152,553 (GRCm39)	K71R	possibly damaging	Het
Tff3	C	T	17: 31,348,508 (GRCm39)	V15I	probably benign	Het
Tgfb3	C	A	12: 86,124,589 (GRCm39)	V40L	possibly damaging	Het
Timm10	T	A	2: 84,657,992 (GRCm39)	D2E	possibly damaging	Het
Ttc16	T	A	2: 32,663,753 (GRCm39)	N74I	probably damaging	Het
Ttll1	G	A	15: 83,381,546 (GRCm39)	T241I	probably damaging	Het
Uba6	T	A	5: 86,260,603 (GRCm39)	D992V	probably damaging	Het
Vmn1r25	T	A	6: 57,955,480 (GRCm39)	T270S	probably benign	Het
Vmn2r106	T	C	17: 20,497,728 (GRCm39)	I504V	probably damaging	Het
Vmn2r87	G	T	10: 130,315,014 (GRCm39)	H191N	possibly damaging	Het
Vnn1	C	A	10: 23,775,303 (GRCm39)	F184L	possibly damaging	Het
Vtn	A	T	11: 78,393,032 (GRCm39)	I466F	probably damaging	Het
Zfp352	A	C	4: 90,112,772 (GRCm39)	D304A	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
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
R5689:Rev3l	UTSW	10	39,670,954 (GRCm39)	missense	probably damaging	1.00
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'- CAGATTTGTACCAGCAACAGAAAG -3'
(R):5'- TGCTATATCCATATTTATTCTGAGGGG -3'

Sequencing Primer
(F):5'- CAGAATGATTTCTCAGTGTAAGTGG -3'
(R):5'- TTATTCTGAGGGGTAAAACAAACAAG -3'

Posted On

2015-09-24