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)
|
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
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 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
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 |
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |