Mutagenetix > Incidental Mutation

Incidental Mutation 'R8724:Rev1'

662251

Institutional Source

Beutler Lab

Gene Symbol

Rev1

Ensembl Gene

ENSMUSG00000026082

Gene Name

REV1, DNA directed polymerase

Synonyms

REV1, Rev1l, 1110027I23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R8724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38052786-38129801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 38088069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 370 (V370G)

Ref Sequence

ENSEMBL: ENSMUSP00000027251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027251] [ENSMUST00000192594]

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 damaging
Transcript: ENSMUST00000027251
AA Change: V370G

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

SMART Domains

Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: V370G

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: ENSMUST00000192594

SMART Domains

Protein: ENSMUSP00000141379
Gene: ENSMUSG00000026082

Domain	Start	End	E-Value	Type
BRCT	46	121	2.5e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193472

Predicted Effect

probably benign
Transcript: ENSMUST00000194815

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,890,893	V334I	probably damaging	Het
Adamtsl4	C	T	3: 95,677,116	R990Q	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ank2	A	T	3: 126,943,756	D2826E	unknown	Het
Asb3	A	T	11: 31,101,120	I486F	probably damaging	Het
Atg4b	A	T	1: 93,768,301	Y54F	probably damaging	Het
Atp1a2	T	A	1: 172,279,378	I792F	probably benign	Het
Ccser1	A	C	6: 61,311,215	S121R	probably damaging	Het
Cdc40	C	T	10: 40,841,484	D404N	probably damaging	Het
Cep120	A	T	18: 53,723,127	V406E	possibly damaging	Het
Ces2g	C	A	8: 104,966,323	A331D	probably benign	Het
Csnk1g2	G	A	10: 80,638,926	R299H	probably damaging	Het
Dlat	G	T	9: 50,649,667	A360E	probably damaging	Het
Dock10	T	G	1: 80,592,627	I371L	probably benign	Het
Dpp9	T	A	17: 56,205,867	T114S	probably benign	Het
Dusp13	T	C	14: 21,746,407	R160G	probably benign	Het
Edem3	A	G	1: 151,775,873	K122R	possibly damaging	Het
Ehbp1l1	A	G	19: 5,715,858	S1486P	possibly damaging	Het
Elf3	A	G	1: 135,254,360	I361T	probably damaging	Het
Epha3	C	T	16: 63,583,455	C761Y	probably damaging	Het
Ephb2	A	G	4: 136,771,057	I237T	probably damaging	Het
Eya1	A	T	1: 14,208,982	D346E	probably benign	Het
Fat2	T	C	11: 55,282,960	Y2309C	probably damaging	Het
Fbn1	T	C	2: 125,360,146	D1269G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fnbp4	T	C	2: 90,746,753	V143A	probably damaging	Het
Foxo6	A	G	4: 120,286,912	I114T	probably damaging	Het
Gm6741	T	C	17: 91,237,136	I109T	probably benign	Het
Gtf2h5	C	CA	17: 6,084,558		probably null	Het
Hsf1	C	T	15: 76,497,799	S199L	probably damaging	Het
Htr3a	T	C	9: 48,904,681	N152S	probably damaging	Het
Ikzf2	T	A	1: 69,577,941	E82D	probably benign	Het
Kank2	T	G	9: 21,794,621	K367T	possibly damaging	Het
Kif20b	T	A	19: 34,938,746		probably benign	Het
Ktn1	G	A	14: 47,693,878	V643I	probably benign	Het
Lipk	G	A	19: 34,018,720	V11M	probably benign	Het
Med4	T	A	14: 73,513,809	L66*	probably null	Het
Mtus1	T	C	8: 40,998,463	K379E	probably damaging	Het
Nat1	T	A	8: 67,491,791	I276N	probably damaging	Het
Nav2	G	A	7: 49,491,436	V910M	possibly damaging	Het
Olfr1115	T	A	2: 87,252,360	I141N	probably damaging	Het
Olfr1253	A	T	2: 89,752,029	D266E	probably damaging	Het
Pcdh9	A	G	14: 93,887,147	V529A	probably benign	Het
Pcdhga7	C	T	18: 37,715,093	T51I	probably benign	Het
Pdcd1	A	G	1: 94,041,231	Y121H	probably damaging	Het
Pdia6	A	G	12: 17,283,981	D438G	unknown	Het
Pgm2	A	G	4: 99,929,767	T68A	probably benign	Het
Pik3c2g	G	A	6: 139,967,893	V1006I	unknown	Het
Plk4	C	T	3: 40,813,587	T855I	probably damaging	Het
Pnldc1	T	A	17: 12,892,816	N335Y	probably damaging	Het
Prkcq	C	T	2: 11,299,973	P658S	probably benign	Het
Rbl2	T	C	8: 91,115,209	I1011T	possibly damaging	Het
Rtn4	A	G	11: 29,693,316	E43G	unknown	Het
Rtp2	C	T	16: 23,927,314	G189D	possibly damaging	Het
Ryr1	G	A	7: 29,117,377	A78V	probably benign	Het
Sel1l3	A	C	5: 53,135,823	Y850*	probably null	Het
Senp3	T	C	11: 69,673,593	Q547R	probably damaging	Het
Siglecf	T	C	7: 43,355,552	L402P	probably damaging	Het
Slc24a1	T	C	9: 64,948,171	I485V	probably benign	Het
Slc45a2	T	A	15: 11,012,524	H204Q	probably benign	Het
Slc9a4	T	G	1: 40,584,141	I180S	probably damaging	Het
Smyd1	T	A	6: 71,216,783	Y420F	probably damaging	Het
Sorcs1	A	G	19: 50,151,220	I1168T	probably benign	Het
Syne1	T	C	10: 5,083,861	E7737G	possibly damaging	Het
Trappc4	T	A	9: 44,405,263	H145L	probably benign	Het
Wdr34	T	C	2: 30,033,949	D188G	probably benign	Het
Wdr75	T	A	1: 45,817,400	W528R	probably damaging	Het
Zc3h13	T	C	14: 75,332,072	V1453A	probably benign	Het
Zfp143	T	C	7: 110,081,903	I318T	probably benign	Het
Zfp846	G	A	9: 20,594,056	R404H	possibly 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
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
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'- AACCTGGTATTCCTGAAGGTTTTC -3'
(R):5'- AAGTGCAGATGCTTTGCGG -3'

Sequencing Primer
(F):5'- CTACCTGTGTCAGTTACAACA -3'
(R):5'- AGATGCTTTGCGGAGTCCAC -3'

Posted On

2021-03-08