Mutagenetix > Incidental Mutation

Incidental Mutation 'R4076:Rev1'

316545

Institutional Source

Beutler Lab

Gene Symbol

Rev1

Ensembl Gene

ENSMUSG00000026082

Gene Name

REV1, DNA directed polymerase

Synonyms

REV1, Rev1l, 1110027I23Rik

MMRRC Submission

040975-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R4076 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38052786-38129801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38054238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 1075 (K1075T)

Ref Sequence

ENSEMBL: ENSMUSP00000027251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027251] [ENSMUST00000027252]

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

possibly damaging
Transcript: ENSMUST00000027251
AA Change: K1075T

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: K1075T

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: ENSMUST00000027252

SMART Domains

Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	183	193	N/A	INTRINSIC
coiled coil region	227	272	N/A	INTRINSIC
coiled coil region	301	414	N/A	INTRINSIC
low complexity region	480	498	N/A	INTRINSIC
coiled coil region	523	554	N/A	INTRINSIC
low complexity region	580	594	N/A	INTRINSIC
Pfam:GTP_EFTU	625	840	4.7e-35	PFAM
Pfam:MMR_HSR1	629	753	5.1e-6	PFAM
Pfam:GTP_EFTU_D2	866	944	7.1e-11	PFAM
Pfam:IF-2	959	1066	1.4e-20	PFAM
Blast:S1	1116	1172	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194650

Meta Mutation Damage Score

0.0621

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Anxa5	T	C	3: 36,450,380	I277V	probably benign	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Cd48	T	A	1: 171,695,883	V98D	probably damaging	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Dnali1	T	C	4: 125,059,470	D188G	probably damaging	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Fras1	G	C	5: 96,743,158	D2849H	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hdc	C	T	2: 126,616,261	R47Q	possibly damaging	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Ltb4r2	A	T	14: 55,762,941	R340W	probably benign	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Nars2	T	A	7: 96,958,094	S91T	probably damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Osgin1	A	C	8: 119,445,033	S189R	possibly damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pik3c2g	A	T	6: 139,852,863	N373I	probably damaging	Het
Pou2f2	T	C	7: 25,097,288	T270A	probably damaging	Het
Rad51b	T	G	12: 79,314,882	S122R	probably damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Tfb1m	T	A	17: 3,521,670	R257W	probably damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	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
R0409:Rev1	UTSW	1	38074368	nonsense	probably null
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
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
R8724:Rev1	UTSW	1	38088069	missense	probably damaging	1.00
R8757:Rev1	UTSW	1	38059272	missense	probably damaging	1.00
R8759:Rev1	UTSW	1	38059272	missense	probably damaging	1.00
R8945:Rev1	UTSW	1	38083743	missense	probably damaging	0.98
R9309:Rev1	UTSW	1	38054864	missense	probably damaging	1.00
R9433:Rev1	UTSW	1	38053092	missense	probably damaging	1.00
R9500:Rev1	UTSW	1	38063133	nonsense	probably null
X0017:Rev1	UTSW	1	38053661	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACGAGAATGCTGTATTCAGAC -3'
(R):5'- TTTATGCCTTAAGCCACGGC -3'

Sequencing Primer
(F):5'- CTGTATTCAGACAGTGTCAAGTAC -3'
(R):5'- GCGTGCCTGGCCTTCTTTC -3'

Posted On

2015-05-15