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)
|
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
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 |
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
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 |
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
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 |
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
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: ENSMUST00000156063
AA Change: T193A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000138558 Gene: ENSMUSG00000030254 AA Change: T193A
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 |
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |