Mutagenetix > Incidental Mutations

Incidental Mutation 'R0409:Rev1'

36494

Institutional Source

Beutler Lab

Gene Symbol

Rev1

Ensembl Gene

ENSMUSG00000026082

Gene Name

REV1, DNA directed polymerase

Synonyms

REV1, Rev1l, 1110027I23Rik

MMRRC Submission

038611-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R0409 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38052786-38129801 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 38074368 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 539 (Y539*)

Ref Sequence

ENSEMBL: ENSMUSP00000027251 (fasta)

Gene Model

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

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: Y539*

SMART Domains

Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: Y539*

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

noncoding transcript
Transcript: ENSMUST00000192697

Predicted Effect

probably benign
Transcript: ENSMUST00000193472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194650

Predicted Effect

probably benign
Transcript: ENSMUST00000194815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195028

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	C	4: 42,972,203	K512T	probably damaging	Het
1700113H08Rik	G	T	10: 87,225,954	A89S	probably damaging	Het
4933417A18Rik	A	T	13: 34,924,549	I5L	probably benign	Het
Alkbh3	T	A	2: 94,001,448	I146F	possibly damaging	Het
Aox2	A	T	1: 58,336,624	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,384	V509G	possibly damaging	Het
Car7	G	A	8: 104,548,424	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,886,215	V271A	probably benign	Het
Cdc40	G	T	10: 40,847,168	H302N	probably damaging	Het
Cep104	C	T	4: 153,983,053		probably benign	Het
Cfap54	C	A	10: 92,776,213	S3161I	probably benign	Het
Chil5	A	G	3: 106,034,966		probably benign	Het
Chil6	C	T	3: 106,404,176	G96D	probably benign	Het
Cnot1	T	C	8: 95,748,855	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Disp3	T	G	4: 148,271,959	E148A	probably damaging	Het
Eps8l2	A	G	7: 141,342,980	Y52C	probably damaging	Het
Exph5	C	A	9: 53,374,343	T908K	probably benign	Het
Fat4	C	T	3: 38,977,413	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,357	A235T	probably benign	Het
Fnip1	A	G	11: 54,480,354		probably null	Het
Fsd1l	T	C	4: 53,679,932	L210P	probably benign	Het
Gm6420	A	C	1: 23,256,038	S123R	unknown	Het
Gm8801	T	G	17: 35,947,376		noncoding transcript	Het
Gmfb	T	C	14: 46,816,222	I36V	probably benign	Het
Gsap	G	A	5: 21,222,445		probably benign	Het
Hectd1	T	A	12: 51,782,556	I969L	possibly damaging	Het
Il21r	G	T	7: 125,629,840		probably benign	Het
Lrrc7	A	G	3: 158,161,426	F893L	possibly damaging	Het
Map2	A	G	1: 66,433,580	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,240,854	I1339T	possibly damaging	Het
Nacad	T	C	11: 6,599,810	D1127G	probably benign	Het
Noc3l	A	G	19: 38,817,927		probably benign	Het
Nup93	A	G	8: 94,303,665	D384G	probably damaging	Het
Olfr1036	T	A	2: 86,075,302	C187*	probably null	Het
Olfr474	T	C	7: 107,955,226	I195T	probably benign	Het
Olfr889	C	T	9: 38,116,251	L152F	probably benign	Het
Pls1	A	T	9: 95,786,919		probably benign	Het
Prkcb	A	T	7: 122,424,977	H75L	probably damaging	Het
Rnf10	A	T	5: 115,255,447		probably benign	Het
Rnpepl1	A	G	1: 92,915,860	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,850,891		probably benign	Het
Sec23b	T	A	2: 144,567,912	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,609	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,367,216	R799L	probably benign	Het
Tctn3	T	C	19: 40,611,416		probably benign	Het
Tfpt	G	A	7: 3,620,899	Q50*	probably null	Het
Trim80	T	C	11: 115,441,213	V77A	probably damaging	Het
Trp73	T	A	4: 154,064,384	D256V	possibly damaging	Het
Utrn	G	T	10: 12,643,601	N2202K	probably benign	Het
Vps13c	T	A	9: 67,951,644	F2792Y	probably benign	Het

Other mutations in Rev1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Rev1	APN	1	38098940	missense	probably damaging	1.00
IGL01065:Rev1	APN	1	38099009	missense	possibly damaging	0.89
IGL01393:Rev1	APN	1	38092063	missense	probably damaging	1.00
IGL03003:Rev1	APN	1	38088073	missense	possibly damaging	0.77
H8562:Rev1	UTSW	1	38056767	missense	probably damaging	0.96
PIT1430001:Rev1	UTSW	1	38056256	unclassified	probably benign
R0606:Rev1	UTSW	1	38059123	missense	probably null	1.00
R1134:Rev1	UTSW	1	38057687	missense	probably benign	0.04
R1171:Rev1	UTSW	1	38088500	missense	possibly damaging	0.89
R1208:Rev1	UTSW	1	38059118	unclassified	probably benign
R1440:Rev1	UTSW	1	38088205	missense	probably damaging	1.00
R1485:Rev1	UTSW	1	38088572	missense	probably benign	0.00
R1627:Rev1	UTSW	1	38055490	missense	probably damaging	0.99
R3845:Rev1	UTSW	1	38098988	missense	probably damaging	0.99
R3948:Rev1	UTSW	1	38074333	missense	possibly damaging	0.69
R4074:Rev1	UTSW	1	38054238	missense	possibly damaging	0.50
R4075:Rev1	UTSW	1	38054238	missense	possibly damaging	0.50
R4076:Rev1	UTSW	1	38054238	missense	possibly damaging	0.50
R4248:Rev1	UTSW	1	38107648	missense	possibly damaging	0.87
R4293:Rev1	UTSW	1	38108419	missense	possibly damaging	0.89
R4548:Rev1	UTSW	1	38059194	missense	possibly damaging	0.72
R4610:Rev1	UTSW	1	38053649	missense	probably damaging	1.00
R4654:Rev1	UTSW	1	38079256	intron	probably benign
R5032:Rev1	UTSW	1	38074489	intron	probably benign
R5286:Rev1	UTSW	1	38055326	nonsense	probably null
R5311:Rev1	UTSW	1	38079393	missense	probably benign	0.00
R5327:Rev1	UTSW	1	38108451	nonsense	probably null
R6363:Rev1	UTSW	1	38071489	missense	probably damaging	1.00
R7050:Rev1	UTSW	1	38054271	missense	probably damaging	1.00
R7072:Rev1	UTSW	1	38067545	nonsense	probably null
R7132:Rev1	UTSW	1	38071449	missense	possibly damaging	0.95
R7264:Rev1	UTSW	1	38085601	missense	probably damaging	1.00
R7298:Rev1	UTSW	1	38053104	missense	probably damaging	1.00
R7367:Rev1	UTSW	1	38074407	nonsense	probably null
R7395:Rev1	UTSW	1	38088065	missense	possibly damaging	0.69
R7829:Rev1	UTSW	1	38056445	missense	probably damaging	0.98
R8053:Rev1	UTSW	1	38063141	missense	possibly damaging	0.67
R8093:Rev1	UTSW	1	38075016	intron	probably benign
R8356:Rev1	UTSW	1	38059243	nonsense	probably null
R8456:Rev1	UTSW	1	38059243	nonsense	probably null
R8461:Rev1	UTSW	1	38083787	missense	possibly damaging	0.56
X0017:Rev1	UTSW	1	38053661	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGTCAATCTGCCTCAGGGGAAAG -3'
(R):5'- AAAGGGGCCAGAGGTCAAGTTTTAC -3'

Sequencing Primer
(F):5'- GTCCGGTAGATCTCACAATATGC -3'
(R):5'- CCTATTGTTAACCCCTGATGAGAAGG -3'

Posted On

2013-05-09