Incidental Mutation 'R9582:Rad18'
| ID |
722600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad18
|
| Ensembl Gene |
ENSMUSG00000030254 |
| Gene Name |
RAD18 E3 ubiquitin protein ligase |
| Synonyms |
2810024C04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9582 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112596811-112673647 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 112658298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068487]
[ENSMUST00000077088]
[ENSMUST00000113180]
[ENSMUST00000113182]
[ENSMUST00000156063]
|
| AlphaFold |
Q9QXK2 |
| Predicted Effect |
probably null
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,772,766 (GRCm39) |
F652I |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,386,665 (GRCm39) |
I457K |
probably benign |
Het |
| Arpin |
T |
C |
7: 79,585,038 (GRCm39) |
|
probably benign |
Het |
| Bhlhe40 |
A |
G |
6: 108,638,467 (GRCm39) |
E51G |
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,766,156 (GRCm39) |
D153N |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,536,200 (GRCm39) |
M547V |
probably benign |
Het |
| Csrnp2 |
C |
T |
15: 100,386,067 (GRCm39) |
R57K |
possibly damaging |
Het |
| Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
| Ddost |
A |
T |
4: 138,035,583 (GRCm39) |
I101F |
possibly damaging |
Het |
| Dyrk1b |
C |
T |
7: 27,882,028 (GRCm39) |
R130W |
probably damaging |
Het |
| Ep400 |
A |
C |
5: 110,824,315 (GRCm39) |
|
probably null |
Het |
| Fam227a |
A |
G |
15: 79,501,978 (GRCm39) |
V532A |
probably benign |
Het |
| Flnc |
C |
A |
6: 29,460,736 (GRCm39) |
T2609K |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,372,256 (GRCm39) |
V168A |
probably benign |
Het |
| Gp5 |
A |
G |
16: 30,127,057 (GRCm39) |
V539A |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,375 (GRCm39) |
R33S |
unknown |
Het |
| Itih5 |
A |
G |
2: 10,195,013 (GRCm39) |
E135G |
probably benign |
Het |
| L2hgdh |
A |
G |
12: 69,739,172 (GRCm39) |
V433A |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,152,263 (GRCm39) |
S138P |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,296,159 (GRCm39) |
V10A |
probably benign |
Het |
| Lypla1 |
C |
T |
1: 4,911,248 (GRCm39) |
P178S |
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,651,858 (GRCm39) |
F216L |
possibly damaging |
Het |
| Mertk |
G |
A |
2: 128,624,527 (GRCm39) |
R646Q |
possibly damaging |
Het |
| Mmp9 |
A |
C |
2: 164,791,235 (GRCm39) |
D135A |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,324,849 (GRCm39) |
K529E |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nwd1 |
A |
G |
8: 73,421,917 (GRCm39) |
T988A |
probably damaging |
Het |
| P4ha2 |
T |
A |
11: 54,022,065 (GRCm39) |
C529* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,417 (GRCm39) |
F242L |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,450 (GRCm39) |
N163S |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,169,369 (GRCm39) |
V585A |
probably damaging |
Het |
| Pknox2 |
T |
A |
9: 36,804,252 (GRCm39) |
T432S |
probably damaging |
Het |
| Rpgrip1l |
C |
T |
8: 91,996,886 (GRCm39) |
V665I |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,114,734 (GRCm39) |
I698V |
probably benign |
Het |
| Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
| Slc2a4 |
C |
T |
11: 69,837,450 (GRCm39) |
V32M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,950,499 (GRCm39) |
Y318H |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,897,717 (GRCm39) |
T156A |
probably benign |
Het |
| Srebf1 |
C |
A |
11: 60,097,868 (GRCm39) |
A103S |
probably benign |
Het |
| Sspn |
C |
T |
6: 145,899,334 (GRCm39) |
|
probably benign |
Het |
| Stoml2 |
A |
T |
4: 43,030,238 (GRCm39) |
|
probably null |
Het |
| Stra6 |
T |
A |
9: 58,054,770 (GRCm39) |
V319E |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,416,780 (GRCm39) |
F414L |
probably damaging |
Het |
| Tet3 |
G |
T |
6: 83,381,226 (GRCm39) |
P314Q |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,757,128 (GRCm39) |
L1313Q |
|
Het |
| Topors |
A |
T |
4: 40,260,460 (GRCm39) |
D941E |
unknown |
Het |
| Txnip |
T |
A |
3: 96,465,659 (GRCm39) |
C36* |
probably null |
Het |
| Uba3 |
A |
T |
6: 97,168,491 (GRCm39) |
M178K |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,925 (GRCm39) |
T196A |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,129 (GRCm39) |
S72R |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,210,975 (GRCm39) |
S1627P |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGAAATAAGTCAGGCTC -3'
(R):5'- CCTGATTAGAGAAACTGGTGACTG -3'
Sequencing Primer
(F):5'- GGCTCACTGAAGTACATGTCC -3'
(R):5'- AGAGAAACTGGTGACTGTGTATTTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation