Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01950:Rev3l'

181293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rev3l

Ensembl Gene

ENSMUSG00000019841

Gene Name

REV3 like, DNA directed polymerase zeta catalytic subunit

Synonyms

Sez4, Rev

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01950

Quality Score

Status

Chromosome

Chromosomal Location

39608114-39751207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39697153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 550 (T550M)

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 damaging
Transcript: ENSMUST00000019986
AA Change: T550M

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

SMART Domains

Protein: ENSMUSP00000019986
Gene: ENSMUSG00000019841
AA Change: T550M

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

probably damaging
Transcript: ENSMUST00000164763
AA Change: T550M

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

SMART Domains

Protein: ENSMUSP00000131519
Gene: ENSMUSG00000019841
AA Change: T550M

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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm	G	A	7: 110,228,107 (GRCm39)	R96H	probably damaging	Het
Aebp1	C	T	11: 5,819,108 (GRCm39)	T198I	probably benign	Het
Arid3b	A	T	9: 57,702,257 (GRCm39)	I500N	probably damaging	Het
Clec1b	T	A	6: 129,377,043 (GRCm39)	W29R	probably damaging	Het
Cyp2e1	T	C	7: 140,344,874 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,290,435 (GRCm39)	E1275G	probably null	Het
Dnajc13	A	T	9: 104,067,631 (GRCm39)	I1171N	possibly damaging	Het
Dpf3	T	G	12: 83,371,723 (GRCm39)	T171P	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Kcnc2	T	G	10: 112,297,980 (GRCm39)		probably benign	Het
Kcnj11	A	T	7: 45,748,573 (GRCm39)	F250Y	probably damaging	Het
Kirrel3	C	T	9: 34,939,625 (GRCm39)		probably benign	Het
Lmbrd1	T	C	1: 24,750,683 (GRCm39)		probably null	Het
Mga	T	C	2: 119,772,135 (GRCm39)	V1665A	possibly damaging	Het
Ms4a3	G	T	19: 11,610,199 (GRCm39)	A121E	probably damaging	Het
Nfix	T	C	8: 85,440,415 (GRCm39)	*392W	probably null	Het
Noxred1	C	T	12: 87,268,190 (GRCm39)	V314M	probably damaging	Het
Or2t47	A	T	11: 58,442,560 (GRCm39)	C168*	probably null	Het
Or51aa5	T	A	7: 103,167,472 (GRCm39)	T40S	probably benign	Het
Phospho1	A	G	11: 95,719,548 (GRCm39)		probably benign	Het
Prr5	G	A	15: 84,650,550 (GRCm39)	A237T	probably benign	Het
Sbf2	A	G	7: 109,965,032 (GRCm39)	F955L	probably benign	Het
Slc38a9	C	T	13: 112,831,787 (GRCm39)	T179M	probably damaging	Het
Trpv5	T	G	6: 41,652,912 (GRCm39)	D87A	probably benign	Het
Tubgcp5	A	G	7: 55,455,836 (GRCm39)	Q288R	possibly damaging	Het
Uqcc1	A	G	2: 155,700,058 (GRCm39)	Y172H	probably damaging	Het
Vmn2r23	T	C	6: 123,718,845 (GRCm39)	F733L	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,827 (GRCm39)	Y53C	probably damaging	Het
Vwa5a	T	A	9: 38,638,266 (GRCm39)	M263K	probably damaging	Het
Zfp503	C	A	14: 22,036,488 (GRCm39)	A143S	probably benign	Het
Zfp958	T	C	8: 4,678,917 (GRCm39)	L314P	probably damaging	Het

Other mutations in Rev3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Rev3l	APN	10	39,682,965 (GRCm39)	missense	probably benign
IGL00815:Rev3l	APN	10	39,735,149 (GRCm39)	missense	possibly damaging	0.79
IGL00964:Rev3l	APN	10	39,740,802 (GRCm39)	missense	probably benign	0.39
IGL01765:Rev3l	APN	10	39,704,261 (GRCm39)	missense	probably benign	0.00
IGL01792:Rev3l	APN	10	39,699,336 (GRCm39)	missense	probably benign
IGL01963:Rev3l	APN	10	39,698,733 (GRCm39)	missense	possibly damaging	0.90
IGL02089:Rev3l	APN	10	39,701,095 (GRCm39)	missense	probably damaging	1.00
IGL02288:Rev3l	APN	10	39,704,212 (GRCm39)	missense	probably benign
IGL02381:Rev3l	APN	10	39,697,342 (GRCm39)	missense	possibly damaging	0.83
IGL02409:Rev3l	APN	10	39,697,144 (GRCm39)	missense	possibly damaging	0.75
IGL02434:Rev3l	APN	10	39,698,587 (GRCm39)	missense	probably damaging	1.00
IGL02570:Rev3l	APN	10	39,724,009 (GRCm39)	missense	possibly damaging	0.68
IGL02581:Rev3l	APN	10	39,697,277 (GRCm39)	missense	probably benign	0.10
IGL02654:Rev3l	APN	10	39,738,730 (GRCm39)	missense	probably damaging	1.00
IGL02720:Rev3l	APN	10	39,698,391 (GRCm39)	nonsense	probably null
IGL02746:Rev3l	APN	10	39,700,585 (GRCm39)	missense	probably damaging	0.99
IGL02829:Rev3l	APN	10	39,701,236 (GRCm39)	missense	probably damaging	1.00
IGL02961:Rev3l	APN	10	39,703,941 (GRCm39)	missense	possibly damaging	0.65
IGL02974:Rev3l	APN	10	39,738,743 (GRCm39)	nonsense	probably null
IGL03029:Rev3l	APN	10	39,704,482 (GRCm39)	missense	probably benign	0.34
IGL03153:Rev3l	APN	10	39,682,874 (GRCm39)	missense	probably damaging	1.00
IGL03172:Rev3l	APN	10	39,700,786 (GRCm39)	missense	probably benign	0.10
R0068:Rev3l	UTSW	10	39,700,827 (GRCm39)	missense	possibly damaging	0.68
R0068:Rev3l	UTSW	10	39,700,827 (GRCm39)	missense	possibly damaging	0.68
R0153:Rev3l	UTSW	10	39,750,124 (GRCm39)	nonsense	probably null
R0308:Rev3l	UTSW	10	39,700,890 (GRCm39)	missense	probably benign	0.09
R0355:Rev3l	UTSW	10	39,693,282 (GRCm39)	missense	probably damaging	1.00
R0513:Rev3l	UTSW	10	39,704,139 (GRCm39)	missense	probably benign	0.00
R0523:Rev3l	UTSW	10	39,724,045 (GRCm39)	missense	probably benign	0.02
R0559:Rev3l	UTSW	10	39,700,483 (GRCm39)	missense	probably damaging	1.00
R0761:Rev3l	UTSW	10	39,750,191 (GRCm39)	missense	probably benign	0.32
R1023:Rev3l	UTSW	10	39,708,635 (GRCm39)	missense	probably damaging	1.00
R1159:Rev3l	UTSW	10	39,727,921 (GRCm39)	nonsense	probably null
R1398:Rev3l	UTSW	10	39,697,579 (GRCm39)	missense	probably benign	0.05
R1478:Rev3l	UTSW	10	39,659,329 (GRCm39)	critical splice donor site	probably null
R1517:Rev3l	UTSW	10	39,714,439 (GRCm39)	missense	probably benign	0.34
R1527:Rev3l	UTSW	10	39,698,818 (GRCm39)	missense	probably damaging	1.00
R1635:Rev3l	UTSW	10	39,682,658 (GRCm39)	missense	probably damaging	0.98
R1695:Rev3l	UTSW	10	39,700,612 (GRCm39)	missense	probably damaging	0.97
R1695:Rev3l	UTSW	10	39,700,611 (GRCm39)	nonsense	probably null
R1782:Rev3l	UTSW	10	39,675,881 (GRCm39)	missense	probably benign
R1815:Rev3l	UTSW	10	39,698,867 (GRCm39)	missense	probably benign	0.41
R1818:Rev3l	UTSW	10	39,704,420 (GRCm39)	missense	probably benign	0.05
R2039:Rev3l	UTSW	10	39,700,440 (GRCm39)	missense	probably damaging	1.00
R2071:Rev3l	UTSW	10	39,700,349 (GRCm39)	missense	probably benign	0.17
R2101:Rev3l	UTSW	10	39,704,092 (GRCm39)	missense	probably benign	0.00
R2141:Rev3l	UTSW	10	39,724,045 (GRCm39)	missense	probably benign	0.02
R2883:Rev3l	UTSW	10	39,701,152 (GRCm39)	missense	probably damaging	1.00
R3787:Rev3l	UTSW	10	39,722,206 (GRCm39)	missense	probably damaging	0.97
R3910:Rev3l	UTSW	10	39,696,552 (GRCm39)	missense	probably damaging	1.00
R3912:Rev3l	UTSW	10	39,696,552 (GRCm39)	missense	probably damaging	1.00
R3913:Rev3l	UTSW	10	39,696,552 (GRCm39)	missense	probably damaging	1.00
R4590:Rev3l	UTSW	10	39,682,929 (GRCm39)	missense	probably damaging	1.00
R4631:Rev3l	UTSW	10	39,704,412 (GRCm39)	missense	probably benign	0.44
R4633:Rev3l	UTSW	10	39,722,182 (GRCm39)	missense	probably damaging	1.00
R4707:Rev3l	UTSW	10	39,699,393 (GRCm39)	missense	probably damaging	0.99
R4724:Rev3l	UTSW	10	39,722,802 (GRCm39)	nonsense	probably null
R4810:Rev3l	UTSW	10	39,699,721 (GRCm39)	missense	probably benign	0.01
R4857:Rev3l	UTSW	10	39,714,455 (GRCm39)	missense	probably damaging	1.00
R4882:Rev3l	UTSW	10	39,697,456 (GRCm39)	missense	possibly damaging	0.89
R4928:Rev3l	UTSW	10	39,699,981 (GRCm39)	missense	probably benign	0.30
R4970:Rev3l	UTSW	10	39,699,326 (GRCm39)	missense	probably benign	0.00
R4977:Rev3l	UTSW	10	39,699,574 (GRCm39)	missense	possibly damaging	0.80
R5112:Rev3l	UTSW	10	39,699,326 (GRCm39)	missense	probably benign	0.00
R5261:Rev3l	UTSW	10	39,722,725 (GRCm39)	missense	probably damaging	1.00
R5419:Rev3l	UTSW	10	39,700,927 (GRCm39)	missense	possibly damaging	0.95
R5570:Rev3l	UTSW	10	39,728,071 (GRCm39)	critical splice donor site	probably null
R5628:Rev3l	UTSW	10	39,698,963 (GRCm39)	missense	probably damaging	0.98
R5689:Rev3l	UTSW	10	39,670,954 (GRCm39)	missense	probably damaging	1.00
R5781:Rev3l	UTSW	10	39,699,089 (GRCm39)	missense	probably benign	0.00
R5829:Rev3l	UTSW	10	39,682,902 (GRCm39)	missense	probably damaging	0.97
R5984:Rev3l	UTSW	10	39,618,685 (GRCm39)	intron	probably benign
R5990:Rev3l	UTSW	10	39,699,807 (GRCm39)	missense	probably benign	0.17
R6054:Rev3l	UTSW	10	39,700,146 (GRCm39)	missense	probably benign	0.01
R6171:Rev3l	UTSW	10	39,738,709 (GRCm39)	nonsense	probably null
R6220:Rev3l	UTSW	10	39,698,775 (GRCm39)	missense	probably damaging	1.00
R6520:Rev3l	UTSW	10	39,698,698 (GRCm39)	missense	probably benign	0.06
R6798:Rev3l	UTSW	10	39,730,759 (GRCm39)	missense	probably damaging	1.00
R6811:Rev3l	UTSW	10	39,706,917 (GRCm39)	nonsense	probably null
R6812:Rev3l	UTSW	10	39,699,544 (GRCm39)	missense	probably benign
R6904:Rev3l	UTSW	10	39,697,477 (GRCm39)	missense	probably benign
R6905:Rev3l	UTSW	10	39,693,323 (GRCm39)	missense	probably benign	0.18
R6938:Rev3l	UTSW	10	39,738,706 (GRCm39)	missense	probably damaging	1.00
R7037:Rev3l	UTSW	10	39,727,971 (GRCm39)	missense	probably damaging	1.00
R7124:Rev3l	UTSW	10	39,698,163 (GRCm39)	nonsense	probably null
R7286:Rev3l	UTSW	10	39,699,601 (GRCm39)	missense	probably damaging	0.99
R7385:Rev3l	UTSW	10	39,699,678 (GRCm39)	missense	probably benign	0.01
R7575:Rev3l	UTSW	10	39,697,441 (GRCm39)	missense	possibly damaging	0.56
R7596:Rev3l	UTSW	10	39,697,534 (GRCm39)	missense	probably damaging	1.00
R7597:Rev3l	UTSW	10	39,698,880 (GRCm39)	missense	probably damaging	1.00
R7670:Rev3l	UTSW	10	39,712,718 (GRCm39)	missense	probably benign	0.01
R7804:Rev3l	UTSW	10	39,699,481 (GRCm39)	missense	probably benign	0.34
R7818:Rev3l	UTSW	10	39,699,898 (GRCm39)	missense	possibly damaging	0.54
R7874:Rev3l	UTSW	10	39,698,491 (GRCm39)	missense	possibly damaging	0.72
R7991:Rev3l	UTSW	10	39,739,734 (GRCm39)	missense	possibly damaging	0.52
R8059:Rev3l	UTSW	10	39,719,491 (GRCm39)	missense	probably damaging	1.00
R8174:Rev3l	UTSW	10	39,735,111 (GRCm39)	missense	probably damaging	1.00
R8187:Rev3l	UTSW	10	39,682,693 (GRCm39)	missense	probably benign
R8299:Rev3l	UTSW	10	39,697,537 (GRCm39)	missense	probably benign	0.01
R8352:Rev3l	UTSW	10	39,698,899 (GRCm39)	missense	probably damaging	1.00
R8452:Rev3l	UTSW	10	39,698,899 (GRCm39)	missense	probably damaging	1.00
R8468:Rev3l	UTSW	10	39,703,987 (GRCm39)	missense	probably damaging	0.99
R8487:Rev3l	UTSW	10	39,682,844 (GRCm39)	missense	probably damaging	1.00
R8512:Rev3l	UTSW	10	39,697,534 (GRCm39)	missense	probably damaging	1.00
R8554:Rev3l	UTSW	10	39,682,838 (GRCm39)	missense	probably benign	0.12
R8702:Rev3l	UTSW	10	39,714,465 (GRCm39)	nonsense	probably null
R8848:Rev3l	UTSW	10	39,722,705 (GRCm39)	missense	probably damaging	0.99
R8857:Rev3l	UTSW	10	39,670,965 (GRCm39)	nonsense	probably null
R8870:Rev3l	UTSW	10	39,738,786 (GRCm39)	missense	probably damaging	1.00
R9094:Rev3l	UTSW	10	39,700,809 (GRCm39)	missense	probably benign
R9175:Rev3l	UTSW	10	39,730,764 (GRCm39)	missense	possibly damaging	0.83
R9286:Rev3l	UTSW	10	39,682,947 (GRCm39)	missense	possibly damaging	0.54
R9299:Rev3l	UTSW	10	39,723,999 (GRCm39)	missense	probably damaging	1.00
R9307:Rev3l	UTSW	10	39,693,149 (GRCm39)	missense	probably benign	0.01
R9337:Rev3l	UTSW	10	39,698,850 (GRCm39)	missense	probably benign	0.40
R9342:Rev3l	UTSW	10	39,697,458 (GRCm39)	missense	probably benign
R9389:Rev3l	UTSW	10	39,698,967 (GRCm39)	missense	possibly damaging	0.47
R9395:Rev3l	UTSW	10	39,735,219 (GRCm39)	critical splice donor site	probably null
R9458:Rev3l	UTSW	10	39,659,247 (GRCm39)	missense	probably damaging	1.00
R9481:Rev3l	UTSW	10	39,701,033 (GRCm39)	missense	probably benign
R9646:Rev3l	UTSW	10	39,698,440 (GRCm39)	missense	probably damaging	1.00
R9686:Rev3l	UTSW	10	39,743,384 (GRCm39)	missense	possibly damaging	0.67
X0022:Rev3l	UTSW	10	39,704,603 (GRCm39)	critical splice donor site	probably null
Z1088:Rev3l	UTSW	10	39,700,314 (GRCm39)	missense	probably benign	0.41

Posted On

2014-05-07