Mutagenetix > Incidental Mutation

Incidental Mutation 'R4633:Rev3l'

349361

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

041898-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39608114-39751207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39722182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 2520 (L2520R)

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

probably damaging
Transcript: ENSMUST00000019986
AA Change: L2520R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: L2520R

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: ENSMUST00000139803
AA Change: L646R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841
AA Change: L646R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145333

Predicted Effect

probably damaging
Transcript: ENSMUST00000164763
AA Change: L2520R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: L2520R

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

0.6790

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,606,503 (GRCm39)	L786Q	probably null	Het
Abcb6	A	T	1: 75,154,426 (GRCm39)		probably benign	Het
Alg10b	T	C	15: 90,112,497 (GRCm39)	V447A	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
B4galt7	A	G	13: 55,756,563 (GRCm39)	H203R	probably damaging	Het
Cd44	T	G	2: 102,683,392 (GRCm39)	D214A	possibly damaging	Het
Ces1c	T	C	8: 93,845,014 (GRCm39)	D275G	probably benign	Het
Cnot11	G	T	1: 39,575,299 (GRCm39)	W127L	probably benign	Het
Csmd1	A	G	8: 16,052,620 (GRCm39)	I2168T	probably damaging	Het
Cyp3a59	T	C	5: 146,031,248 (GRCm39)	F137S	probably damaging	Het
Dst	T	A	1: 34,209,515 (GRCm39)	L1234Q	probably damaging	Het
Erbb2	T	A	11: 98,323,814 (GRCm39)	I676N	possibly damaging	Het
Erlin1	G	A	19: 44,029,204 (GRCm39)	R243C	probably damaging	Het
Fanci	T	C	7: 79,076,990 (GRCm39)	L576P	probably damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Glg1	C	T	8: 111,904,276 (GRCm39)		probably null	Het
Gpr139	A	T	7: 118,743,628 (GRCm39)	I319N	probably damaging	Het
Hectd4	C	A	5: 121,487,279 (GRCm39)	H3425N	probably benign	Het
Itga10	A	G	3: 96,555,020 (GRCm39)	D118G	possibly damaging	Het
Klra13-ps	T	G	6: 130,268,136 (GRCm39)		noncoding transcript	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Krt5	T	A	15: 101,620,042 (GRCm39)	D225V	probably damaging	Het
Krtap4-9	G	T	11: 99,676,380 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,105,579 (GRCm39)	A2029E	probably damaging	Het
Lrp2	T	A	2: 69,291,761 (GRCm39)	T3473S	probably benign	Het
Lrrc37	A	T	11: 103,509,957 (GRCm39)		probably benign	Het
Lrriq1	G	A	10: 103,036,424 (GRCm39)	R910*	probably null	Het
Map1b	C	T	13: 99,571,450 (GRCm39)	V424M	probably damaging	Het
Mrtfb	T	C	16: 13,197,737 (GRCm39)	I85T	possibly damaging	Het
Mylk2	T	C	2: 152,759,335 (GRCm39)	S369P	probably benign	Het
Myom3	T	G	4: 135,503,010 (GRCm39)	F362L	probably benign	Het
Nomo1	A	G	7: 45,699,684 (GRCm39)		probably benign	Het
Or10s1	T	A	9: 39,985,630 (GRCm39)	V13E	probably damaging	Het
Or1p1	T	G	11: 74,180,120 (GRCm39)	M216R	probably benign	Het
Or2l13b	C	T	16: 19,349,034 (GRCm39)	G212D	possibly damaging	Het
Or2w4	A	G	13: 21,795,398 (GRCm39)	V247A	probably damaging	Het
Parp4	C	T	14: 56,885,048 (GRCm39)	L1376F	unknown	Het
Phykpl	C	A	11: 51,484,435 (GRCm39)	A208E	probably damaging	Het
Pla2g15	T	C	8: 106,886,887 (GRCm39)	F126S	probably damaging	Het
Polq	T	G	16: 36,868,904 (GRCm39)	M479R	probably damaging	Het
Prpf4b	A	G	13: 35,084,425 (GRCm39)	T938A	probably damaging	Het
Psma1	A	G	7: 113,870,369 (GRCm39)	M63T	probably damaging	Het
Rbpms2	T	C	9: 65,558,918 (GRCm39)	S174P	probably benign	Het
Rcc1	G	T	4: 132,063,080 (GRCm39)	S162R	probably damaging	Het
Rhobtb1	T	A	10: 69,085,443 (GRCm39)		probably null	Het
Rps19	G	T	7: 24,588,595 (GRCm39)		probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Selenof	C	T	3: 144,302,622 (GRCm39)	R116*	probably null	Het
Slc16a11	T	C	11: 70,107,205 (GRCm39)		probably null	Het
Stk3	A	G	15: 34,959,074 (GRCm39)	V296A	probably damaging	Het
Taar8b	C	A	10: 23,968,150 (GRCm39)	E15*	probably null	Het
Tas2r102	T	A	6: 132,739,642 (GRCm39)	N183K	possibly damaging	Het
Tet2	T	A	3: 133,191,310 (GRCm39)	E1041D	probably benign	Het
Tm9sf1	A	G	14: 55,878,660 (GRCm39)	V244A	probably damaging	Het
Trgc4	G	T	13: 19,536,457 (GRCm39)	V172F	probably benign	Het
Trim24	T	A	6: 37,933,371 (GRCm39)	I650K	probably damaging	Het
Trim59	G	T	3: 68,944,747 (GRCm39)	Q198K	probably benign	Het
Ttc28	C	T	5: 111,371,867 (GRCm39)	T772I	probably damaging	Het
Tvp23a	C	T	16: 10,244,909 (GRCm39)	V146M	probably benign	Het
Usp17la	A	T	7: 104,509,428 (GRCm39)	D11V	possibly damaging	Het
Usp48	A	G	4: 137,362,211 (GRCm39)	K32R	probably damaging	Het
Uspl1	A	G	5: 149,151,202 (GRCm39)	K801E	probably damaging	Het
Utp20	T	C	10: 88,588,814 (GRCm39)	I2452V	probably benign	Het
Vps18	T	C	2: 119,123,757 (GRCm39)	L228P	probably damaging	Het
Yju2b	T	C	8: 84,987,024 (GRCm39)	T158A	probably benign	Het
Zfp410	A	T	12: 84,372,510 (GRCm39)	D112V	probably damaging	Het
Zfp872	G	T	9: 22,108,490 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,768,891 (GRCm39)	E1110G	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
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'- AGAACTGGGCCTGGGTTATC -3'
(R):5'- AGGGGCGCTTTTAACGATACTAC -3'

Sequencing Primer
(F):5'- CTGGGCCTGGGTTATCAAAAACTC -3'
(R):5'- GCGCTTTTAACGATACTACAAGATTC -3'

Posted On

2015-10-08