Incidental Mutation 'R4595:Lrwd1'
| ID |
386488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrwd1
|
| Ensembl Gene |
ENSMUSG00000029703 |
| Gene Name |
leucine-rich repeats and WD repeat domain containing 1 |
| Synonyms |
Orca, 1200011O22Rik |
| MMRRC Submission |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
136151920-136164928 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136152810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 484
(V484A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006301]
[ENSMUST00000041366]
[ENSMUST00000111127]
[ENSMUST00000111129]
|
| AlphaFold |
Q8BUI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006301
AA Change: V484A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: V484A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
LRR_TYP
|
46 |
69 |
3.16e-3 |
SMART |
|
LRR
|
90 |
113 |
1.58e2 |
SMART |
|
WD40
|
271 |
327 |
6.36e1 |
SMART |
|
Blast:WD40
|
330 |
380 |
2e-12 |
BLAST |
|
WD40
|
383 |
423 |
1.49e-7 |
SMART |
|
WD40
|
434 |
473 |
2.28e2 |
SMART |
|
Blast:WD40
|
484 |
527 |
6e-15 |
BLAST |
|
WD40
|
542 |
583 |
1.42e2 |
SMART |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
Blast:WD40
|
603 |
646 |
8e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041366
|
| SMART Domains |
Protein: ENSMUSP00000038505
Gene: ENSMUSG00000039771
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_L_2
|
30 |
104 |
5.3e-32 |
PFAM |
|
Pfam:RNA_pol_L
|
32 |
98 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111127
|
| SMART Domains |
Protein: ENSMUSP00000106757
Gene: ENSMUSG00000039771
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_L_2
|
29 |
105 |
3.6e-33 |
PFAM |
|
Pfam:RNA_pol_L
|
31 |
99 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111129
|
| SMART Domains |
Protein: ENSMUSP00000106759
Gene: ENSMUSG00000039771
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNA_pol_L
|
17 |
69 |
2.7e-9 |
PFAM |
|
Pfam:RNA_pol_L_2
|
17 |
75 |
1.8e-23 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128255
AA Change: V11A
|
| SMART Domains |
Protein: ENSMUSP00000119546
Gene: ENSMUSG00000029703
AA Change: V11A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
13 |
66 |
2e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199799
|
| Meta Mutation Damage Score |
0.0615 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,403,357 (GRCm39) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
probably damaging |
Het |
|
| Other mutations in Lrwd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01593:Lrwd1
|
APN |
5 |
136,163,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01827:Lrwd1
|
APN |
5 |
136,160,372 (GRCm39) |
nonsense |
probably null |
|
|
IGL01919:Lrwd1
|
APN |
5 |
136,164,729 (GRCm39) |
nonsense |
probably null |
|
|
IGL02327:Lrwd1
|
APN |
5 |
136,152,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Lrwd1
|
UTSW |
5 |
136,152,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0882:Lrwd1
|
UTSW |
5 |
136,152,254 (GRCm39) |
splice site |
probably null |
|
|
R1137:Lrwd1
|
UTSW |
5 |
136,162,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1164:Lrwd1
|
UTSW |
5 |
136,159,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1302:Lrwd1
|
UTSW |
5 |
136,161,267 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1838:Lrwd1
|
UTSW |
5 |
136,161,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2114:Lrwd1
|
UTSW |
5 |
136,159,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Lrwd1
|
UTSW |
5 |
136,159,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Lrwd1
|
UTSW |
5 |
136,159,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Lrwd1
|
UTSW |
5 |
136,160,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5304:Lrwd1
|
UTSW |
5 |
136,160,004 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5384:Lrwd1
|
UTSW |
5 |
136,152,728 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5719:Lrwd1
|
UTSW |
5 |
136,161,093 (GRCm39) |
splice site |
probably null |
|
|
R5771:Lrwd1
|
UTSW |
5 |
136,152,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5791:Lrwd1
|
UTSW |
5 |
136,159,887 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6431:Lrwd1
|
UTSW |
5 |
136,161,888 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7074:Lrwd1
|
UTSW |
5 |
136,152,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7132:Lrwd1
|
UTSW |
5 |
136,152,129 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7838:Lrwd1
|
UTSW |
5 |
136,160,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7873:Lrwd1
|
UTSW |
5 |
136,152,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8033:Lrwd1
|
UTSW |
5 |
136,152,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Lrwd1
|
UTSW |
5 |
136,162,257 (GRCm39) |
nonsense |
probably null |
|
|
R8828:Lrwd1
|
UTSW |
5 |
136,164,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8841:Lrwd1
|
UTSW |
5 |
136,152,037 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9515:Lrwd1
|
UTSW |
5 |
136,160,413 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9767:Lrwd1
|
UTSW |
5 |
136,162,856 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1176:Lrwd1
|
UTSW |
5 |
136,162,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrwd1
|
UTSW |
5 |
136,160,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCACAGGTAGATGGTG -3'
(R):5'- ACTGGAAGCATCTTCTGGC -3'
Sequencing Primer
(F):5'- ACAGGTAGATGGTGCCCTGTC -3'
(R):5'- TGGAAGCATCTTCTGGCCTACAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation