Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Rev1'

548926

Institutional Source

Beutler Lab

Gene Symbol

Rev1

Ensembl Gene

ENSMUSG00000026082

Gene Name

REV1, DNA directed polymerase

Synonyms

1110027I23Rik, Rev1l, REV1

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R7072 (G1)

Quality Score

190.009

Status

Validated

Chromosome

Chromosomal Location

38091867-38168882 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 38106626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 634 (E634*)

Ref Sequence

ENSEMBL: ENSMUSP00000027251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027251]

AlphaFold

Q920Q2

PDB Structure

Solution structure of the mouse Rev1 C-terminal domain [SOLUTION NMR]
Solution structure of the mouse Rev1 CTD in complex with the Rev1-interacting Region (RIR)of Pol Kappa [SOLUTION NMR]
Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000027251
AA Change: E634*

SMART Domains

Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: E634*

Domain	Start	End	E-Value	Type
BRCT	46	121	3.99e-13	SMART
low complexity region	320	342	N/A	INTRINSIC
Pfam:IMS	420	620	1.9e-43	PFAM
Pfam:IMS_C	700	831	5.8e-20	PFAM
low complexity region	888	901	N/A	INTRINSIC
Pfam:DUF4414	938	1071	9.7e-11	PFAM
Pfam:REV1_C	1127	1248	1.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193472

Predicted Effect

probably benign
Transcript: ENSMUST00000194815

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal somatic hypermutation frequency of the Ig gene. Mice homozygous for a knock-out allele exhibit background-sensitive prenatal lethality and abnormal somatic hypermutation frequency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,592 (GRCm39)	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,553,934 (GRCm39)	F90L	probably benign	Het
Ahnak2	T	A	12: 112,751,786 (GRCm39)	Q23L		Het
Anpep	A	T	7: 79,485,127 (GRCm39)	L620I	possibly damaging	Het
Bpi	T	C	2: 158,113,998 (GRCm39)	S299P	probably damaging	Het
Bpifa2	A	G	2: 153,853,293 (GRCm39)	D132G	probably damaging	Het
Brd7	T	A	8: 89,073,615 (GRCm39)	E258D	probably benign	Het
Btc	T	C	5: 91,550,796 (GRCm39)		probably benign	Het
Cacna1c	A	G	6: 118,573,067 (GRCm39)	V2039A		Het
Calm4	T	A	13: 3,888,275 (GRCm39)	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766 (GRCm39)	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,748,803 (GRCm39)	V80A	unknown	Het
Ccdc33	A	G	9: 58,019,267 (GRCm39)	*279R	probably null	Het
Cercam	T	A	2: 29,771,936 (GRCm39)	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,429,296 (GRCm39)	D138G	probably benign	Het
Cox4i2	T	C	2: 152,602,573 (GRCm39)	F89S	probably damaging	Het
Crb1	G	A	1: 139,165,013 (GRCm39)	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,322,967 (GRCm39)		probably null	Het
Ctsj	C	A	13: 61,150,897 (GRCm39)	E187*	probably null	Het
Dagla	A	T	19: 10,233,659 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,458,912 (GRCm39)	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,472,812 (GRCm39)	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,057,465 (GRCm39)	L236Q	probably damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Frmd5	A	T	2: 121,388,351 (GRCm39)	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,106,749 (GRCm39)	T662A	probably benign	Het
Gins1	C	T	2: 150,751,671 (GRCm39)		probably null	Het
Gli3	T	A	13: 15,900,280 (GRCm39)	N1222K	possibly damaging	Het
Gm4302	G	T	10: 100,177,521 (GRCm39)	Q268H	unknown	Het
Grin2d	A	T	7: 45,506,922 (GRCm39)	W518R	probably damaging	Het
Grm5	A	T	7: 87,723,512 (GRCm39)	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,596,365 (GRCm39)	N193K	probably benign	Het
Igdcc4	T	G	9: 65,038,013 (GRCm39)	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,318,396 (GRCm39)	F13I	probably benign	Het
Kctd11	T	A	11: 69,770,621 (GRCm39)	N139I	probably benign	Het
Lmo7	G	A	14: 102,136,136 (GRCm39)		probably null	Het
Lrrk2	A	T	15: 91,686,123 (GRCm39)	M2155L	probably benign	Het
Ly6g6g	C	T	15: 74,644,119 (GRCm39)	V66M		Het
Mettl24	A	C	10: 40,559,509 (GRCm39)	H53P	probably benign	Het
Mier2	A	G	10: 79,376,133 (GRCm39)	M264T	unknown	Het
Mplkip	T	C	13: 17,870,122 (GRCm39)	I18T	unknown	Het
Mtmr2	T	C	9: 13,699,916 (GRCm39)	V101A	probably benign	Het
Nbeal2	G	T	9: 110,455,119 (GRCm39)	T2593K	probably benign	Het
Neu3	A	T	7: 99,463,404 (GRCm39)	C106*	probably null	Het
Nutm1	T	C	2: 112,082,192 (GRCm39)	T295A	probably benign	Het
Or2h2b-ps1	A	G	17: 37,481,269 (GRCm39)	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,850,329 (GRCm39)	V779L	probably benign	Het
Pde10a	A	G	17: 9,161,858 (GRCm39)	E231G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plcg2	T	A	8: 118,316,574 (GRCm39)		probably null	Het
Pofut2	T	C	10: 77,095,263 (GRCm39)	L36P	probably benign	Het
Pou6f2	T	C	13: 18,299,754 (GRCm39)	N635S		Het
Pramel14	A	C	4: 143,720,698 (GRCm39)	I81R	probably damaging	Het
Ptpra	T	C	2: 130,395,350 (GRCm39)	Y818H	probably damaging	Het
Rad18	T	C	6: 112,658,401 (GRCm39)	E168G	probably benign	Het
Sec24d	A	G	3: 123,124,000 (GRCm39)	D403G	probably damaging	Het
Sema5a	C	A	15: 32,575,105 (GRCm39)	H404Q	possibly damaging	Het
Shank1	A	G	7: 43,994,370 (GRCm39)	S844G	unknown	Het
Slc32a1	T	A	2: 158,453,416 (GRCm39)	Y85*	probably null	Het
Slc39a4	T	C	15: 76,497,458 (GRCm39)	T485A	probably damaging	Het
Sp5	A	C	2: 70,307,074 (GRCm39)	Q253P	probably benign	Het
Sspo	A	T	6: 48,431,913 (GRCm39)	D709V	probably damaging	Het
Sucnr1	A	G	3: 59,993,604 (GRCm39)	Y44C	probably damaging	Het
Taar8b	A	G	10: 23,967,876 (GRCm39)	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,991,494 (GRCm39)	D922G	probably damaging	Het
Tbx6	A	T	7: 126,383,912 (GRCm39)	D322V	probably benign	Het
Tex15	T	A	8: 34,065,459 (GRCm39)	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,432,327 (GRCm39)	P880S	probably benign	Het
Uck1	C	T	2: 32,148,178 (GRCm39)	R182Q	probably damaging	Het
Utrn	T	A	10: 12,340,957 (GRCm39)	H2840L	probably damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Wnk1	A	T	6: 119,914,822 (GRCm39)	I1909N	unknown	Het
Zfp352	C	T	4: 90,112,661 (GRCm39)	T267I	probably benign	Het
Zfp773	A	T	7: 7,135,874 (GRCm39)	C241S	probably benign	Het
Zfp934	T	C	13: 62,668,339 (GRCm39)	D8G	probably damaging	Het

Other mutations in Rev1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Rev1	APN	1	38,138,021 (GRCm39)	missense	probably damaging	1.00
IGL01065:Rev1	APN	1	38,138,090 (GRCm39)	missense	possibly damaging	0.89
IGL01393:Rev1	APN	1	38,131,144 (GRCm39)	missense	probably damaging	1.00
IGL03003:Rev1	APN	1	38,127,154 (GRCm39)	missense	possibly damaging	0.77
H8562:Rev1	UTSW	1	38,095,848 (GRCm39)	missense	probably damaging	0.96
PIT1430001:Rev1	UTSW	1	38,095,337 (GRCm39)	unclassified	probably benign
R0409:Rev1	UTSW	1	38,113,449 (GRCm39)	nonsense	probably null
R0606:Rev1	UTSW	1	38,098,204 (GRCm39)	missense	probably null	1.00
R1134:Rev1	UTSW	1	38,096,768 (GRCm39)	missense	probably benign	0.04
R1171:Rev1	UTSW	1	38,127,581 (GRCm39)	missense	possibly damaging	0.89
R1208:Rev1	UTSW	1	38,098,199 (GRCm39)	unclassified	probably benign
R1440:Rev1	UTSW	1	38,127,286 (GRCm39)	missense	probably damaging	1.00
R1485:Rev1	UTSW	1	38,127,653 (GRCm39)	missense	probably benign	0.00
R1627:Rev1	UTSW	1	38,094,571 (GRCm39)	missense	probably damaging	0.99
R3845:Rev1	UTSW	1	38,138,069 (GRCm39)	missense	probably damaging	0.99
R3948:Rev1	UTSW	1	38,113,414 (GRCm39)	missense	possibly damaging	0.69
R4074:Rev1	UTSW	1	38,093,319 (GRCm39)	missense	possibly damaging	0.50
R4075:Rev1	UTSW	1	38,093,319 (GRCm39)	missense	possibly damaging	0.50
R4076:Rev1	UTSW	1	38,093,319 (GRCm39)	missense	possibly damaging	0.50
R4248:Rev1	UTSW	1	38,146,729 (GRCm39)	missense	possibly damaging	0.87
R4293:Rev1	UTSW	1	38,147,500 (GRCm39)	missense	possibly damaging	0.89
R4548:Rev1	UTSW	1	38,098,275 (GRCm39)	missense	possibly damaging	0.72
R4610:Rev1	UTSW	1	38,092,730 (GRCm39)	missense	probably damaging	1.00
R4654:Rev1	UTSW	1	38,118,337 (GRCm39)	intron	probably benign
R5032:Rev1	UTSW	1	38,113,570 (GRCm39)	intron	probably benign
R5286:Rev1	UTSW	1	38,094,407 (GRCm39)	nonsense	probably null
R5311:Rev1	UTSW	1	38,118,474 (GRCm39)	missense	probably benign	0.00
R5327:Rev1	UTSW	1	38,147,532 (GRCm39)	nonsense	probably null
R6363:Rev1	UTSW	1	38,110,570 (GRCm39)	missense	probably damaging	1.00
R7050:Rev1	UTSW	1	38,093,352 (GRCm39)	missense	probably damaging	1.00
R7132:Rev1	UTSW	1	38,110,530 (GRCm39)	missense	possibly damaging	0.95
R7264:Rev1	UTSW	1	38,124,682 (GRCm39)	missense	probably damaging	1.00
R7298:Rev1	UTSW	1	38,092,185 (GRCm39)	missense	probably damaging	1.00
R7367:Rev1	UTSW	1	38,113,488 (GRCm39)	nonsense	probably null
R7395:Rev1	UTSW	1	38,127,146 (GRCm39)	missense	possibly damaging	0.69
R7829:Rev1	UTSW	1	38,095,526 (GRCm39)	missense	probably damaging	0.98
R8053:Rev1	UTSW	1	38,102,222 (GRCm39)	missense	possibly damaging	0.67
R8093:Rev1	UTSW	1	38,114,097 (GRCm39)	intron	probably benign
R8356:Rev1	UTSW	1	38,098,324 (GRCm39)	nonsense	probably null
R8456:Rev1	UTSW	1	38,098,324 (GRCm39)	nonsense	probably null
R8461:Rev1	UTSW	1	38,122,868 (GRCm39)	missense	possibly damaging	0.56
R8724:Rev1	UTSW	1	38,127,150 (GRCm39)	missense	probably damaging	1.00
R8757:Rev1	UTSW	1	38,098,353 (GRCm39)	missense	probably damaging	1.00
R8759:Rev1	UTSW	1	38,098,353 (GRCm39)	missense	probably damaging	1.00
R8945:Rev1	UTSW	1	38,122,824 (GRCm39)	missense	probably damaging	0.98
R9309:Rev1	UTSW	1	38,093,945 (GRCm39)	missense	probably damaging	1.00
R9433:Rev1	UTSW	1	38,092,173 (GRCm39)	missense	probably damaging	1.00
R9500:Rev1	UTSW	1	38,102,214 (GRCm39)	nonsense	probably null
X0017:Rev1	UTSW	1	38,092,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCATGCGCATGTCACTC -3'
(R):5'- AGCAACCATTCTGGCCATATTC -3'

Sequencing Primer
(F):5'- GCATGTCACTCCAGCACCTG -3'
(R):5'- ACCAAGTGAGTGTGTGTACGTAC -3'

Posted On

2019-05-15