Incidental Mutation 'R2894:Rad18'
| ID |
260695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad18
|
| Ensembl Gene |
ENSMUSG00000030254 |
| Gene Name |
RAD18 E3 ubiquitin protein ligase |
| Synonyms |
2810024C04Rik |
| MMRRC Submission |
040482-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
112596811-112673647 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 112652734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 288
(Q288*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068487]
[ENSMUST00000077088]
[ENSMUST00000113180]
[ENSMUST00000113182]
[ENSMUST00000142079]
[ENSMUST00000156063]
|
| AlphaFold |
Q9QXK2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068487
AA Change: Q288*
|
| SMART Domains |
Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: Q288*
| 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 null
Transcript: ENSMUST00000077088
AA Change: Q288*
|
| SMART Domains |
Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: Q288*
| 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 null
Transcript: ENSMUST00000113180
AA Change: Q288*
|
| SMART Domains |
Protein: ENSMUSP00000108805
Gene: ENSMUSG00000030254
AA Change: Q288*
| 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 null
Transcript: ENSMUST00000113182
AA Change: Q288*
|
| SMART Domains |
Protein: ENSMUSP00000108807
Gene: ENSMUSG00000030254
AA Change: Q288*
| 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 null
Transcript: ENSMUST00000142079
AA Change: Q2*
|
| SMART Domains |
Protein: ENSMUSP00000117582
Gene: ENSMUSG00000030254
AA Change: Q2*
| 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 null
Transcript: ENSMUST00000156063
AA Change: Q288*
|
| SMART Domains |
Protein: ENSMUSP00000138558
Gene: ENSMUSG00000030254
AA Change: Q288*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
C |
A |
11: 83,554,329 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Cenpu |
C |
A |
8: 47,029,384 (GRCm39) |
N212K |
probably damaging |
Het |
| Dcun1d2 |
A |
T |
8: 13,328,649 (GRCm39) |
I86N |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,020,718 (GRCm39) |
E1217V |
possibly damaging |
Het |
| Dusp15 |
T |
C |
2: 152,791,005 (GRCm39) |
I31V |
probably benign |
Het |
| Ern2 |
A |
C |
7: 121,780,810 (GRCm39) |
S114A |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fmo6 |
C |
T |
1: 162,750,293 (GRCm39) |
W254* |
probably null |
Het |
| Gm16494 |
T |
C |
17: 47,327,632 (GRCm39) |
E84G |
unknown |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Mdga1 |
T |
C |
17: 30,071,478 (GRCm39) |
Y381C |
probably damaging |
Het |
| Msh3 |
G |
T |
13: 92,478,868 (GRCm39) |
A367D |
probably benign |
Het |
| Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
| Or51e1 |
A |
G |
7: 102,358,882 (GRCm39) |
T139A |
probably damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,588 (GRCm39) |
Y196* |
probably null |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,675,692 (GRCm39) |
M378K |
probably damaging |
Het |
| Rarb |
T |
C |
14: 16,435,146 (GRCm38) |
D300G |
probably damaging |
Het |
| Ruvbl1 |
C |
T |
6: 88,456,114 (GRCm39) |
R63W |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,663,916 (GRCm39) |
N77S |
probably benign |
Het |
| Slc22a19 |
C |
A |
19: 7,670,169 (GRCm39) |
K228N |
probably benign |
Het |
| Thoc6 |
A |
G |
17: 23,888,009 (GRCm39) |
S292P |
probably damaging |
Het |
| Tmem126b |
A |
T |
7: 90,120,121 (GRCm39) |
S83R |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,408 (GRCm39) |
E262K |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,785,220 (GRCm39) |
V144A |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,275,578 (GRCm39) |
N787S |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGTGTTCTACAGGTAGC -3'
(R):5'- CTAGTCAGTCAGGTATTGGGAAGG -3'
Sequencing Primer
(F):5'- CAGGTAGCTCTTAAAATTCATTTGC -3'
(R):5'- TCTGAGAATGCTTGATAATTCACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation