Incidental Mutation 'R3435:Lrrc57'
| ID |
475659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc57
|
| Ensembl Gene |
ENSMUSG00000027286 |
| Gene Name |
leucine rich repeat containing 57 |
| Synonyms |
2810002D13Rik |
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120434719-120439989 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 120439862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028741]
[ENSMUST00000102496]
[ENSMUST00000102497]
[ENSMUST00000102498]
[ENSMUST00000102499]
[ENSMUST00000110706]
[ENSMUST00000124187]
[ENSMUST00000133612]
[ENSMUST00000135465]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028741
|
| SMART Domains |
Protein: ENSMUSP00000028741
Gene: ENSMUSG00000027285
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS2
|
4 |
67 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102496
|
| SMART Domains |
Protein: ENSMUSP00000099554
Gene: ENSMUSG00000027286
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
37 |
60 |
9.48e0 |
SMART |
|
LRR
|
61 |
83 |
6.77e0 |
SMART |
|
LRR_TYP
|
84 |
106 |
9.58e-3 |
SMART |
|
LRR
|
107 |
129 |
9.96e-1 |
SMART |
|
LRR_TYP
|
130 |
153 |
9.44e-2 |
SMART |
|
LRR
|
175 |
200 |
3.27e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102497
|
| SMART Domains |
Protein: ENSMUSP00000099555
Gene: ENSMUSG00000027286
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
37 |
60 |
9.48e0 |
SMART |
|
LRR
|
61 |
83 |
6.77e0 |
SMART |
|
LRR_TYP
|
84 |
106 |
9.58e-3 |
SMART |
|
LRR
|
107 |
129 |
9.96e-1 |
SMART |
|
LRR_TYP
|
130 |
153 |
9.44e-2 |
SMART |
|
LRR
|
175 |
200 |
3.27e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102498
|
| SMART Domains |
Protein: ENSMUSP00000099556
Gene: ENSMUSG00000027286
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
37 |
60 |
9.48e0 |
SMART |
|
LRR
|
61 |
83 |
6.77e0 |
SMART |
|
LRR_TYP
|
84 |
106 |
9.58e-3 |
SMART |
|
LRR
|
107 |
129 |
9.96e-1 |
SMART |
|
LRR_TYP
|
130 |
153 |
9.44e-2 |
SMART |
|
LRR
|
175 |
200 |
3.27e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102499
|
| SMART Domains |
Protein: ENSMUSP00000099557
Gene: ENSMUSG00000027286
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
37 |
60 |
9.48e0 |
SMART |
|
LRR
|
61 |
83 |
6.77e0 |
SMART |
|
LRR_TYP
|
84 |
106 |
9.58e-3 |
SMART |
|
LRR
|
107 |
129 |
9.96e-1 |
SMART |
|
LRR_TYP
|
130 |
153 |
9.44e-2 |
SMART |
|
LRR
|
175 |
200 |
3.27e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110706
|
| SMART Domains |
Protein: ENSMUSP00000106334
Gene: ENSMUSG00000027285
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS2
|
1 |
199 |
2.4e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124187
|
| SMART Domains |
Protein: ENSMUSP00000117299
Gene: ENSMUSG00000027285
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAUS2
|
5 |
215 |
1.2e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133612
|
| SMART Domains |
Protein: ENSMUSP00000121638
Gene: ENSMUSG00000027286
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
37 |
60 |
9.48e0 |
SMART |
|
LRR
|
61 |
83 |
6.77e0 |
SMART |
|
LRR_TYP
|
84 |
106 |
9.58e-3 |
SMART |
|
LRR
|
107 |
129 |
9.96e-1 |
SMART |
|
LRR_TYP
|
130 |
153 |
9.44e-2 |
SMART |
|
LRR
|
175 |
200 |
3.27e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135465
|
| SMART Domains |
Protein: ENSMUSP00000117895
Gene: ENSMUSG00000027286
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
1 |
23 |
9.96e-1 |
SMART |
|
LRR_TYP
|
24 |
47 |
9.44e-2 |
SMART |
|
LRR
|
69 |
94 |
3.27e2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
|
| Other mutations in Lrrc57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Lrrc57
|
APN |
2 |
120,436,532 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01347:Lrrc57
|
APN |
2 |
120,439,286 (GRCm39) |
missense |
probably benign |
|
|
IGL03258:Lrrc57
|
APN |
2 |
120,435,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Lrrc57
|
UTSW |
2 |
120,436,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Lrrc57
|
UTSW |
2 |
120,438,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Lrrc57
|
UTSW |
2 |
120,436,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation