Incidental Mutation 'IGL01577:Rad18'
ID |
91317 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL01577
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
112596811-112673647 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 112642302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068487]
[ENSMUST00000077088]
[ENSMUST00000113180]
[ENSMUST00000113182]
[ENSMUST00000142079]
[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: ENSMUST00000142079
|
SMART Domains |
Protein: ENSMUSP00000117582 Gene: ENSMUSG00000030254
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 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 |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,709,232 (GRCm39) |
T279A |
probably benign |
Het |
Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
Gga2 |
A |
G |
7: 121,589,006 (GRCm39) |
Y574H |
probably damaging |
Het |
Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
Nmnat1 |
T |
A |
4: 149,554,135 (GRCm39) |
D135V |
possibly damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
Psd4 |
C |
T |
2: 24,293,234 (GRCm39) |
P700S |
probably damaging |
Het |
Rbbp5 |
A |
G |
1: 132,420,393 (GRCm39) |
K209E |
possibly damaging |
Het |
Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,874,538 (GRCm39) |
T116A |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
probably damaging |
Het |
|
Other mutations in Rad18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
|
Posted On |
2013-12-09 |