Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Rad18'

471281

Institutional Source

Beutler Lab

Gene Symbol

Rad18

Ensembl Gene

ENSMUSG00000030254

Gene Name

RAD18 E3 ubiquitin protein ligase

Synonyms

2810024C04Rik

MMRRC Submission

044145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5958 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

112596811-112673647 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 112673603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254

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

SMART Domains

Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254

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

SMART Domains

Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254

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

SMART Domains

Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254

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

SMART Domains

Protein: ENSMUSP00000138558
Gene: ENSMUSG00000030254

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180959

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Cpb2	T	C	14: 75,520,827 (GRCm39)	I414T	probably damaging	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Epyc	A	T	10: 97,485,704 (GRCm39)	H48L	probably benign	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Meioc	A	T	11: 102,565,979 (GRCm39)	T476S	probably benign	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Or5b24	T	C	19: 12,912,411 (GRCm39)	F103S	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,102,092 (GRCm39)	M722V	possibly damaging	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spag6l	C	A	16: 16,580,885 (GRCm39)		probably null	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	probably benign	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
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'- AAACATCCGGTTCGTTAGGG -3'
(R):5'- GATCCAAGAGGTCCAAACGC -3'

Sequencing Primer
(F):5'- ACCTAAGGCTGACTGCGCAG -3'
(R):5'- GAGGTCCAAACGCCTGCATC -3'

Posted On

2017-03-31