Incidental Mutation 'IGL02425:Rad18'
ID292864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad18
Ensembl Gene ENSMUSG00000030254
Gene NameRAD18 E3 ubiquitin protein ligase
Synonyms2810024C04Rik
Accession Numbers

Genbank: NM_001167730, NM_021385; MGI: 1890476

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02425
Quality Score
Status
Chromosome6
Chromosomal Location112619850-112696686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 112620898 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 219 (D219E)
Ref Sequence ENSEMBL: ENSMUSP00000117582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068487] [ENSMUST00000077088] [ENSMUST00000113180] [ENSMUST00000113182] [ENSMUST00000142079]
Predicted Effect probably damaging
Transcript: ENSMUST00000068487
AA Change: D526E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: D526E

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: D479E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: D479E

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: D398E

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254
AA Change: D398E

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: D419E

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: D419E

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 damaging
Transcript: ENSMUST00000142079
AA Change: D219E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117582
Gene: ENSMUSG00000030254
AA Change: D219E

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Adam4 C T 12: 81,421,328 R173H probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Dsn1 A G 2: 156,996,747 V316A probably damaging Het
Errfi1 T A 4: 150,866,356 F80L probably benign Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Kcnab1 T C 3: 65,302,179 Y154H possibly damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Moxd1 A G 10: 24,279,436 N245S probably benign Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Nudt4 T A 10: 95,549,383 T149S probably benign Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Rad18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01577:Rad18 APN 6 112665341 splice site probably benign
IGL02622:Rad18 APN 6 112687987 missense probably damaging 0.99
IGL02814:Rad18 APN 6 112644622 missense possibly damaging 0.72
3-1:Rad18 UTSW 6 112681511 nonsense probably null
R0823:Rad18 UTSW 6 112665299 missense possibly damaging 0.80
R1220:Rad18 UTSW 6 112649664 nonsense probably null
R1351:Rad18 UTSW 6 112620902 missense possibly damaging 0.55
R1378:Rad18 UTSW 6 112681336 splice site probably benign
R1623:Rad18 UTSW 6 112628519 missense probably damaging 1.00
R1737:Rad18 UTSW 6 112681537 missense probably damaging 1.00
R2509:Rad18 UTSW 6 112675922 missense possibly damaging 0.93
R2893:Rad18 UTSW 6 112675773 nonsense probably null
R2894:Rad18 UTSW 6 112675773 nonsense probably null
R3017:Rad18 UTSW 6 112681366 missense possibly damaging 0.95
R3123:Rad18 UTSW 6 112681346 missense probably benign 0.41
R3755:Rad18 UTSW 6 112693471 missense probably damaging 1.00
R4392:Rad18 UTSW 6 112693529 missense probably damaging 1.00
R5285:Rad18 UTSW 6 112686765 missense probably benign 0.45
R5566:Rad18 UTSW 6 112681346 missense probably benign 0.41
R5958:Rad18 UTSW 6 112696642 unclassified probably benign
R6744:Rad18 UTSW 6 112675784 missense probably damaging 1.00
R7072:Rad18 UTSW 6 112681440 missense probably benign 0.01
R7247:Rad18 UTSW 6 112665325 missense possibly damaging 0.81
R7860:Rad18 UTSW 6 112649837 missense probably benign 0.01
R8223:Rad18 UTSW 6 112688021 nonsense probably null
Posted On2015-04-16