Incidental Mutation 'R4392:Rad18'
| ID |
326404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad18
|
| Ensembl Gene |
ENSMUSG00000030254 |
| Gene Name |
RAD18 E3 ubiquitin protein ligase |
| Synonyms |
2810024C04Rik |
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
Genbank: NM_001167730, NM_021385; MGI: 1890476 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112619850-112696686 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112693529 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 25
(C25S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068487]
[ENSMUST00000077088]
[ENSMUST00000113180]
[ENSMUST00000113182]
[ENSMUST00000156063]
|
| AlphaFold |
Q9QXK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068487
AA Change: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: C25S
| 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 damaging
Transcript: ENSMUST00000077088
AA Change: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: C25S
| 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 damaging
Transcript: ENSMUST00000113180
AA Change: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254
AA Change: C25S
| 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: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: C25S
| 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 damaging
Transcript: ENSMUST00000156063
AA Change: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138558
Gene: ENSMUSG00000030254
AA Change: C25S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180959
|
| Meta Mutation Damage Score |
0.9672 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,584,978 (GRCm38) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,309,034 (GRCm38) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,149,408 (GRCm38) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,676,249 (GRCm38) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,916,542 (GRCm38) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,698,750 (GRCm38) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,566,335 (GRCm38) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,400,280 (GRCm38) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,951,353 (GRCm38) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,353,464 (GRCm38) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,662,488 (GRCm38) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 27,029,275 (GRCm38) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,162,036 (GRCm38) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,229 (GRCm38) |
R1188H |
probably benign |
Het |
| Dopey1 |
T |
C |
9: 86,503,143 (GRCm38) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 77,090,458 (GRCm38) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 102,086,641 (GRCm38) |
|
probably null |
Het |
| Elmsan1 |
A |
T |
12: 84,173,111 (GRCm38) |
D356E |
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,943,697 (GRCm38) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,040,077 (GRCm38) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,559,491 (GRCm38) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,568,232 (GRCm38) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,117,452 (GRCm38) |
S280P |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 112,920,136 (GRCm38) |
F467S |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,827,780 (GRCm38) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,260,629 (GRCm38) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,290,143 (GRCm38) |
|
probably null |
Het |
| Lhx4 |
A |
G |
1: 155,710,134 (GRCm38) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 29,850,656 (GRCm38) |
T413A |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,397,616 (GRCm38) |
L184H |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,259,589 (GRCm38) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,344,881 (GRCm38) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm38) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,400,272 (GRCm38) |
Q212P |
probably damaging |
Het |
| Olfr268-ps1 |
T |
C |
2: 111,844,345 (GRCm38) |
|
noncoding transcript |
Het |
| Olfr726 |
A |
G |
14: 50,084,603 (GRCm38) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 46,285,124 (GRCm38) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,064,351 (GRCm38) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,032,311 (GRCm38) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,858,115 (GRCm38) |
E557V |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,164,788 (GRCm38) |
P511L |
probably null |
Het |
| Sgpl1 |
A |
G |
10: 61,104,452 (GRCm38) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 80,967,804 (GRCm38) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,418,471 (GRCm38) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,491,224 (GRCm38) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 123,066,752 (GRCm38) |
T631I |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 79,024,438 (GRCm38) |
Y457H |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,848,538 (GRCm38) |
W207R |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,795,509 (GRCm38) |
|
probably null |
Het |
| Ttc26 |
A |
G |
6: 38,381,557 (GRCm38) |
|
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,211,984 (GRCm38) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Usp2 |
A |
T |
9: 44,091,259 (GRCm38) |
H384L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,230,176 (GRCm38) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,762,476 (GRCm38) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,251,832 (GRCm38) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,139,643 (GRCm38) |
C419* |
probably null |
Het |
|
| Other mutations in Rad18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01577:Rad18
|
APN |
6 |
112,665,341 (GRCm38) |
splice site |
probably benign |
|
|
IGL02425:Rad18
|
APN |
6 |
112,620,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02622:Rad18
|
APN |
6 |
112,687,987 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02814:Rad18
|
APN |
6 |
112,644,622 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
3-1:Rad18
|
UTSW |
6 |
112,681,511 (GRCm38) |
nonsense |
probably null |
|
|
R0823:Rad18
|
UTSW |
6 |
112,665,299 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1220:Rad18
|
UTSW |
6 |
112,649,664 (GRCm38) |
nonsense |
probably null |
|
|
R1351:Rad18
|
UTSW |
6 |
112,620,902 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R1378:Rad18
|
UTSW |
6 |
112,681,336 (GRCm38) |
splice site |
probably benign |
|
|
R1623:Rad18
|
UTSW |
6 |
112,628,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1737:Rad18
|
UTSW |
6 |
112,681,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2509:Rad18
|
UTSW |
6 |
112,675,922 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2893:Rad18
|
UTSW |
6 |
112,675,773 (GRCm38) |
nonsense |
probably null |
|
|
R2894:Rad18
|
UTSW |
6 |
112,675,773 (GRCm38) |
nonsense |
probably null |
|
|
R3017:Rad18
|
UTSW |
6 |
112,681,366 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3123:Rad18
|
UTSW |
6 |
112,681,346 (GRCm38) |
missense |
probably benign |
0.41 |
|
R3755:Rad18
|
UTSW |
6 |
112,693,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5285:Rad18
|
UTSW |
6 |
112,686,765 (GRCm38) |
missense |
probably benign |
0.45 |
|
R5566:Rad18
|
UTSW |
6 |
112,681,346 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5958:Rad18
|
UTSW |
6 |
112,696,642 (GRCm38) |
unclassified |
probably benign |
|
|
R6744:Rad18
|
UTSW |
6 |
112,675,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7072:Rad18
|
UTSW |
6 |
112,681,440 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7247:Rad18
|
UTSW |
6 |
112,665,325 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7860:Rad18
|
UTSW |
6 |
112,649,837 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8223:Rad18
|
UTSW |
6 |
112,688,021 (GRCm38) |
nonsense |
probably null |
|
|
R8959:Rad18
|
UTSW |
6 |
112,628,483 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9024:Rad18
|
UTSW |
6 |
112,649,601 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9582:Rad18
|
UTSW |
6 |
112,681,337 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGAAAGTGCACGGCAAAG -3'
(R):5'- ACCTGTCCACAAAGCAAGTAGG -3'
Sequencing Primer
(F):5'- TGCACGGCAAAGGAACG -3'
(R):5'- GGGAAGCTTTTCTCAGTCATGATCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation