Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Rev3l'

24981

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

038518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39732118-39875211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39824894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1796 (I1796V)

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 benign
Transcript: ENSMUST00000019986
AA Change: I1796V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: I1796V

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 benign
Transcript: ENSMUST00000139803

SMART Domains

Protein: ENSMUSP00000115630
Gene: ENSMUSG00000019841

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 benign
Transcript: ENSMUST00000164763
AA Change: I1796V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: I1796V

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

0.0590

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,931,286		probably benign	Het
Abcc12	C	T	8: 86,557,752		probably benign	Het
Adamts12	A	G	15: 11,311,560	E1301G	probably damaging	Het
Adh4	A	T	3: 138,424,102	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,673,092	M109L	probably benign	Het
Angpt2	T	C	8: 18,692,125	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,340,399	D301E	probably benign	Het
Armc10	G	A	5: 21,647,297		probably benign	Het
Arntl	A	T	7: 113,291,536	I179F	probably damaging	Het
Atm	T	C	9: 53,454,473		probably null	Het
Atp5b	T	C	10: 128,086,039	V265A	probably benign	Het
Atp8b1	G	T	18: 64,545,244	C860*	probably null	Het
Atrnl1	T	G	19: 57,753,288	S1160A	probably benign	Het
Cep55	A	G	19: 38,060,211	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,885,364	D2502Y	unknown	Het
Cilp2	A	G	8: 69,882,993	S452P	probably benign	Het
Clptm1l	A	G	13: 73,611,667	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,745,286	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,777,988	I388F	probably damaging	Het
Dars	C	T	1: 128,364,259	R494H	probably damaging	Het
Dna2	T	C	10: 62,956,974	V256A	probably damaging	Het
Dock7	T	C	4: 98,984,814	T1132A	probably benign	Het
Elk3	A	T	10: 93,265,205	M228K	probably benign	Het
Erich6	A	G	3: 58,636,104	F182L	probably damaging	Het
Fhad1	A	G	4: 141,985,593		probably benign	Het
Fryl	A	T	5: 73,041,604		probably benign	Het
Fzd9	A	T	5: 135,249,406	C542S	probably damaging	Het
Gba	A	G	3: 89,208,364	T460A	probably benign	Het
Gli2	C	T	1: 118,842,062	A587T	probably benign	Het
Gm10037	A	G	13: 67,843,113		probably benign	Het
Gm11011	C	T	2: 169,582,694		probably benign	Het
Gm17018	T	G	19: 45,577,006	F140V	probably damaging	Het
Gm9745	T	G	13: 8,940,841		probably benign	Het
Gmppb	A	G	9: 108,049,834	E68G	probably benign	Het
Gpld1	A	G	13: 24,962,835	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,433,207	S900L	probably damaging	Het
Ints6l	A	T	X: 56,481,355	M215L	possibly damaging	Het
Irx6	T	A	8: 92,677,031	L128Q	probably damaging	Het
Itga10	T	C	3: 96,651,464	S373P	probably damaging	Het
Jak1	T	C	4: 101,154,535		probably null	Het
Jak2	C	T	19: 29,311,757	T1103I	probably benign	Het
Katnal1	A	T	5: 148,878,924	V401D	possibly damaging	Het
Lrp2	T	A	2: 69,482,982		probably benign	Het
Map3k13	A	G	16: 21,891,988	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 47,310,018	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584	A55T	probably benign	Het
Olfr881	A	G	9: 37,992,845	I118V	probably benign	Het
Opa1	G	A	16: 29,621,531	R818Q	probably damaging	Het
Opn4	T	C	14: 34,597,124	Y168C	possibly damaging	Het
Phf21a	T	C	2: 92,330,777	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,593,596		probably benign	Het
Plcb1	T	G	2: 134,813,614	V38G	probably benign	Het
Plxna4	T	A	6: 32,237,768	T593S	probably benign	Het
Poll	A	T	19: 45,555,965	I339N	probably damaging	Het
Rnf103	G	A	6: 71,509,702	R439H	probably damaging	Het
Rrn3	G	A	16: 13,799,882		probably benign	Het
Sec14l4	G	A	11: 4,041,726		probably benign	Het
Sec23a	A	C	12: 59,007,199	Y4*	probably null	Het
Senp6	T	C	9: 80,132,983		probably null	Het
Serpinb6b	A	T	13: 32,978,237	N221Y	probably benign	Het
Slc6a2	A	G	8: 92,961,360	E38G	possibly damaging	Het
Smap1	A	T	1: 23,849,342	L196I	probably damaging	Het
Sorbs2	C	T	8: 45,795,130	Q473*	probably null	Het
Sphkap	C	A	1: 83,276,969	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,488,542	V225A	probably benign	Het
Srprb	G	A	9: 103,202,005	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,496,671		probably benign	Het
Tcp1	T	A	17: 12,920,419	I162N	probably benign	Het
Tmem237	C	A	1: 59,107,517	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,846,503	F884L	probably damaging	Het
Trim7	A	G	11: 48,849,501	T142A	probably damaging	Het
Ttn	T	A	2: 76,785,680	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,122,436	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,830,908	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,481,118	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,391,053	D247G	probably damaging	Het
Usp43	G	A	11: 67,880,140	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638	H440L	probably benign	Het
Zfp518b	C	T	5: 38,672,770	E631K	possibly damaging	Het

Other mutations in Rev3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Rev3l	APN	10	39806969	missense	probably benign
IGL00815:Rev3l	APN	10	39859153	missense	possibly damaging	0.79
IGL00964:Rev3l	APN	10	39864806	missense	probably benign	0.39
IGL01765:Rev3l	APN	10	39828265	missense	probably benign	0.00
IGL01792:Rev3l	APN	10	39823340	missense	probably benign
IGL01950:Rev3l	APN	10	39821157	missense	probably damaging	1.00
IGL01963:Rev3l	APN	10	39822737	missense	possibly damaging	0.90
IGL02089:Rev3l	APN	10	39825099	missense	probably damaging	1.00
IGL02288:Rev3l	APN	10	39828216	missense	probably benign
IGL02381:Rev3l	APN	10	39821346	missense	possibly damaging	0.83
IGL02409:Rev3l	APN	10	39821148	missense	possibly damaging	0.75
IGL02434:Rev3l	APN	10	39822591	missense	probably damaging	1.00
IGL02570:Rev3l	APN	10	39848013	missense	possibly damaging	0.68
IGL02581:Rev3l	APN	10	39821281	missense	probably benign	0.10
IGL02654:Rev3l	APN	10	39862734	missense	probably damaging	1.00
IGL02720:Rev3l	APN	10	39822395	nonsense	probably null
IGL02746:Rev3l	APN	10	39824589	missense	probably damaging	0.99
IGL02829:Rev3l	APN	10	39825240	missense	probably damaging	1.00
IGL02961:Rev3l	APN	10	39827945	missense	possibly damaging	0.65
IGL02974:Rev3l	APN	10	39862747	nonsense	probably null
IGL03029:Rev3l	APN	10	39828486	missense	probably benign	0.34
IGL03153:Rev3l	APN	10	39806878	missense	probably damaging	1.00
IGL03172:Rev3l	APN	10	39824790	missense	probably benign	0.10
R0068:Rev3l	UTSW	10	39824831	missense	possibly damaging	0.68
R0068:Rev3l	UTSW	10	39824831	missense	possibly damaging	0.68
R0153:Rev3l	UTSW	10	39874128	nonsense	probably null
R0355:Rev3l	UTSW	10	39817286	missense	probably damaging	1.00
R0513:Rev3l	UTSW	10	39828143	missense	probably benign	0.00
R0523:Rev3l	UTSW	10	39848049	missense	probably benign	0.02
R0559:Rev3l	UTSW	10	39824487	missense	probably damaging	1.00
R0761:Rev3l	UTSW	10	39874195	missense	probably benign	0.32
R1023:Rev3l	UTSW	10	39832639	missense	probably damaging	1.00
R1159:Rev3l	UTSW	10	39851925	nonsense	probably null
R1398:Rev3l	UTSW	10	39821583	missense	probably benign	0.05
R1478:Rev3l	UTSW	10	39783333	critical splice donor site	probably null
R1517:Rev3l	UTSW	10	39838443	missense	probably benign	0.34
R1527:Rev3l	UTSW	10	39822822	missense	probably damaging	1.00
R1635:Rev3l	UTSW	10	39806662	missense	probably damaging	0.98
R1695:Rev3l	UTSW	10	39824615	nonsense	probably null
R1695:Rev3l	UTSW	10	39824616	missense	probably damaging	0.97
R1782:Rev3l	UTSW	10	39799885	missense	probably benign
R1815:Rev3l	UTSW	10	39822871	missense	probably benign	0.41
R1818:Rev3l	UTSW	10	39828424	missense	probably benign	0.05
R2039:Rev3l	UTSW	10	39824444	missense	probably damaging	1.00
R2071:Rev3l	UTSW	10	39824353	missense	probably benign	0.17
R2101:Rev3l	UTSW	10	39828096	missense	probably benign	0.00
R2141:Rev3l	UTSW	10	39848049	missense	probably benign	0.02
R2883:Rev3l	UTSW	10	39825156	missense	probably damaging	1.00
R3787:Rev3l	UTSW	10	39846210	missense	probably damaging	0.97
R3910:Rev3l	UTSW	10	39820556	missense	probably damaging	1.00
R3912:Rev3l	UTSW	10	39820556	missense	probably damaging	1.00
R3913:Rev3l	UTSW	10	39820556	missense	probably damaging	1.00
R4590:Rev3l	UTSW	10	39806933	missense	probably damaging	1.00
R4631:Rev3l	UTSW	10	39828416	missense	probably benign	0.44
R4633:Rev3l	UTSW	10	39846186	missense	probably damaging	1.00
R4707:Rev3l	UTSW	10	39823397	missense	probably damaging	0.99
R4724:Rev3l	UTSW	10	39846806	nonsense	probably null
R4810:Rev3l	UTSW	10	39823725	missense	probably benign	0.01
R4857:Rev3l	UTSW	10	39838459	missense	probably damaging	1.00
R4882:Rev3l	UTSW	10	39821460	missense	possibly damaging	0.89
R4928:Rev3l	UTSW	10	39823985	missense	probably benign	0.30
R4970:Rev3l	UTSW	10	39823330	missense	probably benign	0.00
R4977:Rev3l	UTSW	10	39823578	missense	possibly damaging	0.80
R5112:Rev3l	UTSW	10	39823330	missense	probably benign	0.00
R5261:Rev3l	UTSW	10	39846729	missense	probably damaging	1.00
R5419:Rev3l	UTSW	10	39824931	missense	possibly damaging	0.95
R5570:Rev3l	UTSW	10	39852075	critical splice donor site	probably null
R5628:Rev3l	UTSW	10	39822967	missense	probably damaging	0.98
R5689:Rev3l	UTSW	10	39794958	missense	probably damaging	1.00
R5781:Rev3l	UTSW	10	39823093	missense	probably benign	0.00
R5829:Rev3l	UTSW	10	39806906	missense	probably damaging	0.97
R5984:Rev3l	UTSW	10	39742689	intron	probably benign
R5990:Rev3l	UTSW	10	39823811	missense	probably benign	0.17
R6054:Rev3l	UTSW	10	39824150	missense	probably benign	0.01
R6171:Rev3l	UTSW	10	39862713	nonsense	probably null
R6220:Rev3l	UTSW	10	39822779	missense	probably damaging	1.00
R6520:Rev3l	UTSW	10	39822702	missense	probably benign	0.06
R6798:Rev3l	UTSW	10	39854763	missense	probably damaging	1.00
R6811:Rev3l	UTSW	10	39830921	nonsense	probably null
R6812:Rev3l	UTSW	10	39823548	missense	probably benign
R6904:Rev3l	UTSW	10	39821481	missense	probably benign
R6905:Rev3l	UTSW	10	39817327	missense	probably benign	0.18
R6938:Rev3l	UTSW	10	39862710	missense	probably damaging	1.00
R7037:Rev3l	UTSW	10	39851975	missense	probably damaging	1.00
R7124:Rev3l	UTSW	10	39822167	nonsense	probably null
R7286:Rev3l	UTSW	10	39823605	missense	probably damaging	0.99
R7385:Rev3l	UTSW	10	39823682	missense	probably benign	0.01
R7575:Rev3l	UTSW	10	39821445	missense	possibly damaging	0.56
R7596:Rev3l	UTSW	10	39821538	missense	probably damaging	1.00
R7597:Rev3l	UTSW	10	39822884	missense	probably damaging	1.00
R7670:Rev3l	UTSW	10	39836722	missense	probably benign	0.01
R7804:Rev3l	UTSW	10	39823485	missense	probably benign	0.34
R7818:Rev3l	UTSW	10	39823902	missense	possibly damaging	0.54
R7874:Rev3l	UTSW	10	39822495	missense	possibly damaging	0.72
R7991:Rev3l	UTSW	10	39863738	missense	possibly damaging	0.52
R8059:Rev3l	UTSW	10	39843495	missense	probably damaging	1.00
R8174:Rev3l	UTSW	10	39859115	missense	probably damaging	1.00
R8187:Rev3l	UTSW	10	39806697	missense	probably benign
R8299:Rev3l	UTSW	10	39821541	missense	probably benign	0.01
R8352:Rev3l	UTSW	10	39822903	missense	probably damaging	1.00
R8452:Rev3l	UTSW	10	39822903	missense	probably damaging	1.00
R8468:Rev3l	UTSW	10	39827991	missense	probably damaging	0.99
R8487:Rev3l	UTSW	10	39806848	missense	probably damaging	1.00
R8512:Rev3l	UTSW	10	39821538	missense	probably damaging	1.00
R8554:Rev3l	UTSW	10	39806842	missense	probably benign	0.12
R8702:Rev3l	UTSW	10	39838469	nonsense	probably null
R8848:Rev3l	UTSW	10	39846709	missense	probably damaging	0.99
R8857:Rev3l	UTSW	10	39794969	nonsense	probably null
R8870:Rev3l	UTSW	10	39862790	missense	probably damaging	1.00
R9094:Rev3l	UTSW	10	39824813	missense	probably benign
R9175:Rev3l	UTSW	10	39854768	missense	possibly damaging	0.83
R9286:Rev3l	UTSW	10	39806951	missense	possibly damaging	0.54
R9299:Rev3l	UTSW	10	39848003	missense	probably damaging	1.00
R9307:Rev3l	UTSW	10	39817153	missense	probably benign	0.01
R9337:Rev3l	UTSW	10	39822854	missense	probably benign	0.40
R9342:Rev3l	UTSW	10	39821462	missense	probably benign
R9389:Rev3l	UTSW	10	39822971	missense	possibly damaging	0.47
R9395:Rev3l	UTSW	10	39859223	critical splice donor site	probably null
R9458:Rev3l	UTSW	10	39783251	missense	probably damaging	1.00
R9481:Rev3l	UTSW	10	39825037	missense	probably benign
R9646:Rev3l	UTSW	10	39822444	missense	probably damaging	1.00
R9686:Rev3l	UTSW	10	39867388	missense	possibly damaging	0.67
X0022:Rev3l	UTSW	10	39828607	critical splice donor site	probably null
Z1088:Rev3l	UTSW	10	39824318	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGAGAATCATCGGCACAGCCAG -3'
(R):5'- TGGCACATCCGAAGGATTACTGC -3'

Sequencing Primer
(F):5'- GCCAGTGGAAAAATAGCTTTCATCC -3'
(R):5'- GGATTACTGCAAAATGGTTCCTG -3'

Posted On

2013-04-16