Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Rev3l'

401448

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

042830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39608114-39751207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39722725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 699 (P699S)

Ref Sequence

ENSEMBL: ENSMUSP00000115630 (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: P2573S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: P2573S

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: P699S

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

SMART Domains

Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841
AA Change: P699S

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: P2573S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: P2573S

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

0.3456

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	G	2: 152,282,777 (GRCm39)	P211A	probably damaging	Het
Ambra1	G	A	2: 91,715,951 (GRCm39)	V761M	probably damaging	Het
Amfr	T	A	8: 94,702,798 (GRCm39)		probably null	Het
Asphd1	C	A	7: 126,545,287 (GRCm39)	A357S	probably benign	Het
Brd3	C	A	2: 27,353,931 (GRCm39)	Q60H	probably damaging	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cep152	T	A	2: 125,406,125 (GRCm39)	H1469L	probably benign	Het
Coro1a	G	T	7: 126,299,816 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,171,555 (GRCm39)	L871Q	probably benign	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Enpep	T	G	3: 129,099,075 (GRCm39)	D467A	probably damaging	Het
Extl2	G	A	3: 115,821,013 (GRCm39)	A273T	probably benign	Het
Foxi3	T	A	6: 70,937,500 (GRCm39)	F218Y	probably damaging	Het
Golga2	A	G	2: 32,194,166 (GRCm39)	M521V	probably benign	Het
Gpr142	T	A	11: 114,695,168 (GRCm39)	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,061 (GRCm39)	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,642,028 (GRCm39)	K698I	probably damaging	Het
Hspa1b	T	C	17: 35,177,983 (GRCm39)	M1V	probably null	Het
Ints9	T	A	14: 65,245,521 (GRCm39)	Y260N	probably benign	Het
Khdc3	T	G	9: 73,010,768 (GRCm39)	V182G	possibly damaging	Het
Ky	A	G	9: 102,414,798 (GRCm39)		probably null	Het
Map2k1	T	A	9: 64,098,843 (GRCm39)	I263F	probably damaging	Het
Or13a18	A	C	7: 140,190,576 (GRCm39)	I166L	probably benign	Het
Or2t47	T	C	11: 58,442,877 (GRCm39)	S63G	probably benign	Het
Or5ak25	A	G	2: 85,269,241 (GRCm39)	V87A	probably benign	Het
Otogl	T	A	10: 107,613,453 (GRCm39)	H2004L	probably benign	Het
Palmd	T	C	3: 116,717,009 (GRCm39)	H496R	probably benign	Het
Papolb	C	G	5: 142,515,409 (GRCm39)	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,336,247 (GRCm39)	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,101,976 (GRCm39)	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,364,545 (GRCm39)	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 51,989,937 (GRCm39)	K21R	probably benign	Het
Prmt5	A	C	14: 54,745,373 (GRCm39)	I598S	probably damaging	Het
Pycr1	T	A	11: 120,532,050 (GRCm39)	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,334,285 (GRCm39)	R896C	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,791,658 (GRCm39)	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,226,617 (GRCm39)	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,540,946 (GRCm39)		probably benign	Het
Slc3a1	C	A	17: 85,359,403 (GRCm39)	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,492,502 (GRCm39)	F246S	probably damaging	Het
Socs2	T	G	10: 95,228,681 (GRCm39)	I190L	unknown	Het
Srsf1	T	A	11: 87,938,684 (GRCm39)	I7N	possibly damaging	Het
Stox1	T	A	10: 62,503,620 (GRCm39)	H145L	probably damaging	Het
Trap1	A	T	16: 3,874,286 (GRCm39)	I243N	probably damaging	Het
Trav7-3	T	C	14: 53,681,207 (GRCm39)	I83T	probably benign	Het
Trmt9b	T	C	8: 36,979,078 (GRCm39)	I227T	probably benign	Het
Tuft1	A	T	3: 94,546,712 (GRCm39)	I42K	possibly damaging	Het
Umps	A	G	16: 33,787,344 (GRCm39)	V3A	probably benign	Het
Vim	A	C	2: 13,579,643 (GRCm39)	E134A	probably null	Het
Vmn1r28	C	A	6: 58,242,524 (GRCm39)	H122Q	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vsig10l	T	A	7: 43,120,274 (GRCm39)	V760D	probably damaging	Het
Xrn1	A	G	9: 95,927,596 (GRCm39)	D1460G	probably benign	Het
Zfp282	A	G	6: 47,874,824 (GRCm39)	D343G	probably damaging	Het
Zfp35	A	G	18: 24,136,778 (GRCm39)	H374R	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
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'- AGACGATTTCTCCCATGTTTTACG -3'
(R):5'- CTACATGGCCAAGGCAAGTG -3'

Sequencing Primer
(F):5'- CAATCTAAGTGACACCTGGAAATTTG -3'
(R):5'- CAAGTGGAAAAGCAGTAGTTATATGC -3'

Posted On

2016-07-06