Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Rad18'

402980

Institutional Source

Beutler Lab

Gene Symbol

Rad18

Ensembl Gene

ENSMUSG00000030254

Gene Name

RAD18 E3 ubiquitin protein ligase

Synonyms

2810024C04Rik

MMRRC Submission

042869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112596811-112673647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112663726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 73 (R73G)

Ref Sequence

ENSEMBL: ENSMUSP00000138558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068487] [ENSMUST00000077088] [ENSMUST00000113180] [ENSMUST00000113182] [ENSMUST00000156063]

AlphaFold

Q9QXK2

Predicted Effect

probably benign
Transcript: ENSMUST00000068487
AA Change: R73G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: R73G

Domain	Start	End	E-Value	Type
RING	25	63	3.12e-6	SMART
low complexity region	99	116	N/A	INTRINSIC
ZnF_Rad18	201	224	3.61e-10	SMART
SAP	248	282	2.71e-11	SMART
internal_repeat_1	398	422	2.94e-14	PROSPERO
internal_repeat_1	422	446	2.94e-14	PROSPERO
low complexity region	473	488	N/A	INTRINSIC
low complexity region	495	507	N/A	INTRINSIC
low complexity region	514	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077088
AA Change: R73G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: R73G

Domain	Start	End	E-Value	Type
RING	25	63	3.12e-6	SMART
low complexity region	99	116	N/A	INTRINSIC
ZnF_Rad18	201	224	3.61e-10	SMART
SAP	248	282	2.71e-11	SMART
PDB:2YBF\|B	340	363	7e-6	PDB
internal_repeat_1	372	396	1.24e-14	PROSPERO
internal_repeat_1	396	420	1.24e-14	PROSPERO
low complexity region	447	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113180
AA Change: R73G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254
AA Change: R73G

Domain	Start	End	E-Value	Type
RING	25	63	3.12e-6	SMART
low complexity region	99	116	N/A	INTRINSIC
ZnF_Rad18	201	224	3.61e-10	SMART
SAP	248	282	2.71e-11	SMART
low complexity region	366	381	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113182
AA Change: R73G

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: R73G

Domain	Start	End	E-Value	Type
RING	25	63	3.12e-6	SMART
low complexity region	99	116	N/A	INTRINSIC
ZnF_Rad18	201	224	3.61e-10	SMART
SAP	248	282	2.71e-11	SMART
low complexity region	366	381	N/A	INTRINSIC
low complexity region	388	400	N/A	INTRINSIC
low complexity region	407	415	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135092

Predicted Effect

probably benign
Transcript: ENSMUST00000156063
AA Change: R73G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138558
Gene: ENSMUSG00000030254
AA Change: R73G

Domain	Start	End	E-Value	Type
RING	25	63	3.12e-6	SMART
low complexity region	99	116	N/A	INTRINSIC
ZnF_Rad18	201	224	3.61e-10	SMART
SAP	248	282	2.71e-11	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a null allele exhibit age-dependent decrease in fertility, germ cell number, and testes weight with progressive degeneration of seminiferous tubules. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,097 (GRCm39)	T12A	probably benign	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adcy8	G	T	15: 64,639,706 (GRCm39)	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,553,752 (GRCm39)	K539*	probably null	Het
Ap1m2	G	T	9: 21,216,933 (GRCm39)	Y134*	probably null	Het
Apobr	A	G	7: 126,184,175 (GRCm39)		probably benign	Het
Atl1	A	G	12: 70,001,273 (GRCm39)	K345R	probably benign	Het
Avil	T	C	10: 126,854,328 (GRCm39)	L765P	probably damaging	Het
Caps2	T	A	10: 112,044,216 (GRCm39)	Y472N	probably benign	Het
Catspere2	A	G	1: 177,931,454 (GRCm39)	K458E	unknown	Het
Cd177	A	T	7: 24,445,674 (GRCm39)	S590T	probably benign	Het
Cep295	T	C	9: 15,233,887 (GRCm39)	D2223G	probably benign	Het
Cfh	T	C	1: 140,028,636 (GRCm39)	T493A	probably benign	Het
Chek1	T	C	9: 36,625,748 (GRCm39)	D299G	probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Crhr1	A	T	11: 104,061,323 (GRCm39)	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,791,893 (GRCm39)	V500A	probably benign	Het
Dcdc5	A	T	2: 106,198,500 (GRCm39)		noncoding transcript	Het
Ergic3	A	G	2: 155,859,957 (GRCm39)		probably benign	Het
Fabp3-ps1	T	G	10: 86,568,066 (GRCm39)		probably benign	Het
Gm6445	C	A	19: 9,585,032 (GRCm39)		noncoding transcript	Het
Gucy2d	C	A	7: 98,107,474 (GRCm39)		probably null	Het
Ighv1-19-1	C	A	12: 114,667,872 (GRCm39)		probably benign	Het
Igkv2-116	G	T	6: 68,129,463 (GRCm39)	R75L	probably benign	Het
Inhbc	C	A	10: 127,193,269 (GRCm39)	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Lyst	T	C	13: 13,809,011 (GRCm39)	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Msh4	T	C	3: 153,579,350 (GRCm39)	N587S	probably benign	Het
Mug1	G	A	6: 121,818,066 (GRCm39)	E126K	probably benign	Het
Nav2	T	C	7: 49,197,982 (GRCm39)	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,283,475 (GRCm39)	I413T	probably damaging	Het
Nipa2	A	T	7: 55,582,760 (GRCm39)	Y328*	probably null	Het
Or1e25	T	A	11: 73,493,767 (GRCm39)	Y120*	probably null	Het
Or51a24	A	G	7: 103,733,340 (GRCm39)	*316R	probably null	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or5k15	A	T	16: 58,710,471 (GRCm39)	Y37*	probably null	Het
Or5k3	T	C	16: 58,969,633 (GRCm39)	L140P	probably damaging	Het
Pla2g4e	T	C	2: 120,019,985 (GRCm39)	D155G	probably damaging	Het
Plxnb1	C	T	9: 108,937,527 (GRCm39)	T1176I	probably damaging	Het
Polg	A	G	7: 79,114,973 (GRCm39)		probably benign	Het
Prl8a2	G	A	13: 27,534,116 (GRCm39)		probably null	Het
Prmt7	G	A	8: 106,974,991 (GRCm39)	R529Q	probably benign	Het
Psg17	T	A	7: 18,554,126 (GRCm39)	L41F	probably benign	Het
Rhpn2	G	T	7: 35,080,990 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sarm1	A	G	11: 78,388,265 (GRCm39)	F7S	probably benign	Het
Sgip1	T	A	4: 102,778,674 (GRCm39)		probably benign	Het
Sh3gl2	A	G	4: 85,294,686 (GRCm39)	K99R	probably benign	Het
Sorbs1	G	A	19: 40,310,334 (GRCm39)	T1018I	probably damaging	Het
Spns2	G	A	11: 72,380,305 (GRCm39)	A106V	possibly damaging	Het
Stab1	A	G	14: 30,865,433 (GRCm39)		probably benign	Het
Steap3	T	C	1: 120,169,610 (GRCm39)	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,674,019 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,034,191 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,509,200 (GRCm39)	S2G	possibly damaging	Het
Usp24	T	A	4: 106,264,230 (GRCm39)	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,579,457 (GRCm39)	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,843,703 (GRCm39)	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,365,442 (GRCm39)	N544S	probably damaging	Het
Vwa1	C	T	4: 155,855,352 (GRCm39)	A254T	probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,545,025 (GRCm39)	L294H	probably damaging	Het

Other mutations in Rad18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01577:Rad18	APN	6	112,642,302 (GRCm39)	splice site	probably benign
IGL02425:Rad18	APN	6	112,597,859 (GRCm39)	missense	probably damaging	1.00
IGL02622:Rad18	APN	6	112,664,948 (GRCm39)	missense	probably damaging	0.99
IGL02814:Rad18	APN	6	112,621,583 (GRCm39)	missense	possibly damaging	0.72
3-1:Rad18	UTSW	6	112,658,472 (GRCm39)	nonsense	probably null
R0823:Rad18	UTSW	6	112,642,260 (GRCm39)	missense	possibly damaging	0.80
R1220:Rad18	UTSW	6	112,626,625 (GRCm39)	nonsense	probably null
R1351:Rad18	UTSW	6	112,597,863 (GRCm39)	missense	possibly damaging	0.55
R1378:Rad18	UTSW	6	112,658,297 (GRCm39)	splice site	probably benign
R1623:Rad18	UTSW	6	112,605,480 (GRCm39)	missense	probably damaging	1.00
R1737:Rad18	UTSW	6	112,658,498 (GRCm39)	missense	probably damaging	1.00
R2509:Rad18	UTSW	6	112,652,883 (GRCm39)	missense	possibly damaging	0.93
R2893:Rad18	UTSW	6	112,652,734 (GRCm39)	nonsense	probably null
R2894:Rad18	UTSW	6	112,652,734 (GRCm39)	nonsense	probably null
R3017:Rad18	UTSW	6	112,658,327 (GRCm39)	missense	possibly damaging	0.95
R3123:Rad18	UTSW	6	112,658,307 (GRCm39)	missense	probably benign	0.41
R3755:Rad18	UTSW	6	112,670,432 (GRCm39)	missense	probably damaging	1.00
R4392:Rad18	UTSW	6	112,670,490 (GRCm39)	missense	probably damaging	1.00
R5566:Rad18	UTSW	6	112,658,307 (GRCm39)	missense	probably benign	0.41
R5958:Rad18	UTSW	6	112,673,603 (GRCm39)	unclassified	probably benign
R6744:Rad18	UTSW	6	112,652,745 (GRCm39)	missense	probably damaging	1.00
R7072:Rad18	UTSW	6	112,658,401 (GRCm39)	missense	probably benign	0.01
R7247:Rad18	UTSW	6	112,642,286 (GRCm39)	missense	possibly damaging	0.81
R7860:Rad18	UTSW	6	112,626,798 (GRCm39)	missense	probably benign	0.01
R8223:Rad18	UTSW	6	112,664,982 (GRCm39)	nonsense	probably null
R8959:Rad18	UTSW	6	112,605,444 (GRCm39)	missense	probably damaging	0.99
R9024:Rad18	UTSW	6	112,626,562 (GRCm39)	missense	probably benign	0.01
R9582:Rad18	UTSW	6	112,658,298 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTAGACCTTCCCCTGTGCG -3'
(R):5'- GGTCCTGATTCACTGGCTAAAG -3'

Sequencing Primer
(F):5'- CTGTGCGGTGGCTATCAC -3'
(R):5'- GTCCTGATTCACTGGCTAAAGTTATG -3'

Posted On

2016-07-22