Incidental Mutation 'R8959:Rad18'
ID 682212
Institutional Source Beutler Lab
Gene Symbol Rad18
Ensembl Gene ENSMUSG00000030254
Gene Name RAD18 E3 ubiquitin protein ligase
Synonyms 2810024C04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8959 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 112596811-112673647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112605444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 410 (E410G)
Ref Sequence ENSEMBL: ENSMUSP00000108807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068487] [ENSMUST00000077088] [ENSMUST00000113180] [ENSMUST00000113182] [ENSMUST00000142079]
AlphaFold Q9QXK2
Predicted Effect
SMART Domains Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: E517G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000113182
AA Change: E410G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: E410G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000142079
SMART Domains Protein: ENSMUSP00000117582
Gene: ENSMUSG00000030254

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,906,399 (GRCm39) T51K possibly damaging Het
Angel2 C T 1: 190,665,332 (GRCm39) R88C probably damaging Het
Ankrd13b G A 11: 77,367,452 (GRCm39) R181C probably damaging Het
Bmal2 T C 6: 146,722,142 (GRCm39) C238R probably benign Het
Brd3 C T 2: 27,354,013 (GRCm39) R33Q probably damaging Het
Ccdc106 T A 7: 5,060,500 (GRCm39) L20Q probably benign Het
Ccdc117 A T 11: 5,491,421 (GRCm39) V62D possibly damaging Het
Ccnt1 T C 15: 98,441,096 (GRCm39) probably benign Het
Cfap95 T C 19: 23,536,385 (GRCm39) E174G possibly damaging Het
Cmip G A 8: 118,138,054 (GRCm39) V178I probably benign Het
Cnnm3 A G 1: 36,558,096 (GRCm39) E436G probably damaging Het
Dcaf11 A G 14: 55,806,761 (GRCm39) N488S probably benign Het
Dlg2 A T 7: 90,501,927 (GRCm39) K80* probably null Het
Dnase1l2 T A 17: 24,661,642 (GRCm39) D39V probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Enpep A T 3: 129,113,090 (GRCm39) L278Q probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Flt3 T G 5: 147,303,774 (GRCm39) Q388P possibly damaging Het
Hltf A G 3: 20,136,936 (GRCm39) Y329C probably damaging Het
Hmcn2 C T 2: 31,282,159 (GRCm39) P1924S probably damaging Het
Iba57 A G 11: 59,052,461 (GRCm39) V122A probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Irak2 T A 6: 113,624,702 (GRCm39) M66K probably damaging Het
Mkrn2os G C 6: 115,562,317 (GRCm39) S215R probably benign Het
Mpped1 G A 15: 83,676,342 (GRCm39) R36Q probably damaging Het
Myh1 C A 11: 67,102,328 (GRCm39) A873E probably benign Het
Nedd9 G T 13: 41,469,758 (GRCm39) A465D probably damaging Het
Nr2f1 G T 13: 78,337,873 (GRCm39) Y257* probably null Het
Omd A G 13: 49,745,790 (GRCm39) E400G possibly damaging Het
Or5j1 T A 2: 86,879,551 (GRCm39) T10S possibly damaging Het
Or6c202 A G 10: 128,996,484 (GRCm39) I123T probably damaging Het
Patj T C 4: 98,480,212 (GRCm39) S1306P probably damaging Het
Pdzph1 T C 17: 59,281,599 (GRCm39) K228E probably damaging Het
Prl2c5 A G 13: 13,365,392 (GRCm39) probably benign Het
Rp1 T A 1: 4,419,650 (GRCm39) probably benign Het
Runx3 C T 4: 134,902,968 (GRCm39) S366L probably damaging Het
Ssh3 T A 19: 4,318,590 (GRCm39) R30S probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Taf6l A G 19: 8,750,690 (GRCm39) F128S possibly damaging Het
Tmc6 A C 11: 117,661,293 (GRCm39) probably null Het
Trpc3 T G 3: 36,709,258 (GRCm39) Q406P probably benign Het
Uncx C A 5: 139,529,826 (GRCm39) Y26* probably null Het
Urb1 T C 16: 90,571,005 (GRCm39) D1268G probably benign Het
Wif1 T C 10: 120,931,957 (GRCm39) C294R probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp78 A G 7: 6,382,380 (GRCm39) R477G probably damaging Het
Other mutations in Rad18
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACTTGTTGTTATGTGAGGACTCC -3'
(R):5'- TCCTCACAGTGTGCATGGTG -3'

Sequencing Primer
(F):5'- TATGTGAGGACTCCAGTTCCACAG -3'
(R):5'- GTGAACATGCCCACCGTTCAG -3'
Posted On 2021-08-31