Incidental Mutation 'R1220:Rad18'
| ID |
99995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad18
|
| Ensembl Gene |
ENSMUSG00000030254 |
| Gene Name |
RAD18 E3 ubiquitin protein ligase |
| Synonyms |
2810024C04Rik |
| MMRRC Submission |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
112596811-112673647 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 112626625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 141
(E141*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117582
(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: E427*
|
| SMART Domains |
Protein: ENSMUSP00000070619
Gene: ENSMUSG00000030254
AA Change: E427*
| 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: E401*
|
| SMART Domains |
Protein: ENSMUSP00000076341
Gene: ENSMUSG00000030254
AA Change: E401*
| 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 |
noncoding transcript
Transcript: ENSMUST00000132590
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142079
AA Change: E141*
|
| SMART Domains |
Protein: ENSMUSP00000117582
Gene: ENSMUSG00000030254
AA Change: E141*
| 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 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
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 |
|
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 |
|
R9582:Rad18
|
UTSW |
6 |
112,658,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGGTCATCTCTTCAGGACAC -3'
(R):5'- TGTCATGTGCAGATGCTTCACTCAC -3'
Sequencing Primer
(F):5'- acaccaagcctgacatcc -3'
(R):5'- GCAGATGCTTCACTCACTTACAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation