Incidental Mutation 'R2893:Rad18'
| ID |
260665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad18
|
| Ensembl Gene |
ENSMUSG00000030254 |
| Gene Name |
RAD18 E3 ubiquitin protein ligase |
| Synonyms |
2810024C04Rik |
| MMRRC Submission |
040481-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2893 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abl1 |
T |
G |
2: 31,687,624 (GRCm39) |
S521R |
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 |
| Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
| Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
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 |
| Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,265,451 (GRCm39) |
D475G |
probably damaging |
Het |
| Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,107,008 (GRCm39) |
G662D |
possibly damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,493 (GRCm39) |
Q269R |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
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 |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
possibly 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 |
|
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 |
|
R9582:Rad18
|
UTSW |
6 |
112,658,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGTGTTCTACAGGTAGC -3'
(R):5'- TCTAGTCAGTCAGGTATTGGGAAGG -3'
Sequencing Primer
(F):5'- CAGGTAGCTCTTAAAATTCATTTGC -3'
(R):5'- TCTGAGAATGCTTGATAATTCACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation