Incidental Mutation 'R3017:Rad18'
ID 257665
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 # R3017 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 112596811-112673647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112658327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 193 (T193A)
Ref Sequence ENSEMBL: ENSMUSP00000108805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068487] [ENSMUST00000077088] [ENSMUST00000113180] [ENSMUST00000113182] [ENSMUST00000156063]
AlphaFold Q9QXK2
Predicted Effect possibly damaging
Transcript: ENSMUST00000068487
AA Change: T193A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: T193A

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 possibly damaging
Transcript: ENSMUST00000077088
AA Change: T193A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: T193A

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 possibly damaging
Transcript: ENSMUST00000113180
AA Change: T193A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254
AA Change: T193A

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 possibly damaging
Transcript: ENSMUST00000113182
AA Change: T193A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: T193A

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 noncoding transcript
Transcript: ENSMUST00000132590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135092
Predicted Effect probably benign
Transcript: ENSMUST00000156063
AA Change: T193A

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138558
Gene: ENSMUSG00000030254
AA Change: T193A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T C 1: 58,274,363 (GRCm39) V383A probably benign Het
Aplp1 A T 7: 30,135,396 (GRCm39) probably null Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Gmnc G A 16: 26,779,165 (GRCm39) H281Y probably benign Het
Gusb T C 5: 130,029,325 (GRCm39) D152G probably damaging Het
Kcnk4 A T 19: 6,905,162 (GRCm39) V163E probably damaging Het
Lcmt1 T G 7: 123,029,359 (GRCm39) L327W probably damaging Het
Med18 G A 4: 132,187,128 (GRCm39) R124C probably damaging Het
Odf1 A G 15: 38,226,675 (GRCm39) T192A unknown Het
Pitpna C T 11: 75,483,016 (GRCm39) R8W probably damaging Het
Pkn1 A G 8: 84,396,799 (GRCm39) Y951H probably benign Het
Ruvbl2 G T 7: 45,071,588 (GRCm39) L432I probably damaging Het
Slco1a4 T C 6: 141,758,396 (GRCm39) probably null Het
Tlr11 T A 14: 50,600,178 (GRCm39) C721* probably null Het
Tubgcp6 A T 15: 88,987,285 (GRCm39) C1229* probably null Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null 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
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
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'- ACCACGGACTGCATCAATG -3'
(R):5'- AAGTGCATAATGCTGACGCCG -3'

Sequencing Primer
(F):5'- CATCAATGCCTGAGACATGGTG -3'
(R):5'- CGAACAGGTTAATGGATAAGTTCCTG -3'
Posted On 2015-01-11