Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Rad18'

563607

Institutional Source

Beutler Lab

Gene Symbol

Rad18

Ensembl Gene

ENSMUSG00000030254

Gene Name

RAD18 E3 ubiquitin protein ligase

Synonyms

2810024C04Rik

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112596811-112673647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112642286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 327 (T327K)

Ref Sequence

ENSEMBL: ENSMUSP00000070619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068487] [ENSMUST00000077088] [ENSMUST00000113180] [ENSMUST00000113182] [ENSMUST00000142079] [ENSMUST00000156063]

AlphaFold

Q9QXK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068487
AA Change: T327K

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: T327K

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 damaging
Transcript: ENSMUST00000077088
AA Change: T327K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: T327K

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

possibly damaging
Transcript: ENSMUST00000113180
AA Change: T327K

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254
AA Change: T327K

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: T327K

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: T327K

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

probably damaging
Transcript: ENSMUST00000142079
AA Change: T41K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117582
Gene: ENSMUSG00000030254
AA Change: T41K

Domain	Start	End	E-Value	Type
internal_repeat_1	112	136	3.29e-13	PROSPERO
internal_repeat_1	136	160	3.29e-13	PROSPERO
low complexity region	187	202	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156063
AA Change: Y301*

SMART Domains

Protein: ENSMUSP00000138558
Gene: ENSMUSG00000030254
AA Change: Y301*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	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
R5285:Rad18	UTSW	6	112,663,726 (GRCm39)	missense	probably benign	0.45
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
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'- AAAGCTGAACGTTAGTCACAGATC -3'
(R):5'- ATCATACGGTCTGAGGCAGG -3'

Sequencing Primer
(F):5'- CGTTAGTCACAGATCTTAAAAGGCAG -3'
(R):5'- GGGACAAACATGCGGGTTACAC -3'

Posted On

2019-06-26