Incidental Mutation 'IGL02886:Lrrc56'
| ID |
363038 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc56
|
| Ensembl Gene |
ENSMUSG00000038637 |
| Gene Name |
leucine rich repeat containing 56 |
| Synonyms |
5730427C23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140774070-140789968 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 140777090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026572]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000097957]
[ENSMUST00000124314]
[ENSMUST00000124971]
[ENSMUST00000144008]
[ENSMUST00000209220]
[ENSMUST00000168550]
|
| AlphaFold |
Q8K375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026572
|
| SMART Domains |
Protein: ENSMUSP00000026572
Gene: ENSMUSG00000025499
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.12e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047093
|
| SMART Domains |
Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:LRR_4
|
138 |
177 |
9.1e-8 |
PFAM |
|
LRRcap
|
212 |
230 |
4.44e-1 |
SMART |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070458
|
| SMART Domains |
Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:LRR_7
|
116 |
132 |
4e-2 |
PFAM |
|
Pfam:LRR_8
|
116 |
171 |
8.7e-8 |
PFAM |
|
Pfam:LRR_4
|
117 |
158 |
7.2e-11 |
PFAM |
|
Pfam:LRR_1
|
139 |
159 |
2.9e-2 |
PFAM |
|
LRRcap
|
212 |
230 |
4.44e-1 |
SMART |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084446
|
| SMART Domains |
Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
|
Pfam:LRR_7
|
116 |
132 |
3.5e-2 |
PFAM |
|
Pfam:LRR_8
|
116 |
171 |
6.9e-8 |
PFAM |
|
Pfam:LRR_4
|
117 |
158 |
6.7e-11 |
PFAM |
|
Pfam:LRR_6
|
136 |
160 |
5.9e-2 |
PFAM |
|
Pfam:LRR_1
|
139 |
159 |
2.6e-2 |
PFAM |
|
Pfam:LRR_6
|
157 |
182 |
4.1e-2 |
PFAM |
|
Pfam:LRR_1
|
161 |
199 |
5.9e-2 |
PFAM |
|
LRRcap
|
212 |
230 |
4.44e-1 |
SMART |
|
low complexity region
|
294 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097957
|
| SMART Domains |
Protein: ENSMUSP00000095570
Gene: ENSMUSG00000025499
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
166 |
1.12e-122 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124314
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124971
|
| SMART Domains |
Protein: ENSMUSP00000138189
Gene: ENSMUSG00000025499
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
108 |
4.18e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168550
|
| SMART Domains |
Protein: ENSMUSP00000132110
Gene: ENSMUSG00000025499
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
158 |
4.97e-106 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,921,863 (GRCm39) |
C1140S |
probably damaging |
Het |
| Abhd12b |
T |
C |
12: 70,229,740 (GRCm39) |
I238T |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,543,991 (GRCm39) |
|
probably null |
Het |
| Baz2b |
A |
T |
2: 59,788,087 (GRCm39) |
|
probably null |
Het |
| Brwd3 |
T |
C |
X: 107,794,454 (GRCm39) |
Y1410C |
probably damaging |
Het |
| Casp7 |
T |
A |
19: 56,421,775 (GRCm39) |
I71N |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,672 (GRCm39) |
I1828F |
probably damaging |
Het |
| Cul2 |
T |
C |
18: 3,426,920 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,986,700 (GRCm39) |
D5409G |
possibly damaging |
Het |
| Fam187a |
A |
T |
11: 102,777,380 (GRCm39) |
T395S |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,793,297 (GRCm39) |
V244A |
possibly damaging |
Het |
| Fubp1 |
A |
G |
3: 151,926,392 (GRCm39) |
E333G |
possibly damaging |
Het |
| Ganab |
G |
T |
19: 8,888,391 (GRCm39) |
|
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,952 (GRCm39) |
S170P |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Klhl11 |
T |
C |
11: 100,363,047 (GRCm39) |
S170G |
possibly damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,901,534 (GRCm39) |
V613A |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,059,169 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,069,569 (GRCm39) |
D837V |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
| Nol4l |
A |
G |
2: 153,371,457 (GRCm39) |
F76L |
probably benign |
Het |
| Or10ak7 |
T |
C |
4: 118,792,027 (GRCm39) |
E6G |
probably benign |
Het |
| Or2b2b |
T |
A |
13: 21,859,122 (GRCm39) |
|
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,882 (GRCm39) |
S310T |
probably benign |
Het |
| Pck1 |
G |
A |
2: 172,996,649 (GRCm39) |
E188K |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,102,064 (GRCm39) |
V1083A |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 47,046,619 (GRCm39) |
Q226* |
probably null |
Het |
| Rbm15 |
A |
C |
3: 107,233,611 (GRCm39) |
V959G |
probably benign |
Het |
| Rorb |
A |
G |
19: 18,954,943 (GRCm39) |
|
probably null |
Het |
| Spata9 |
T |
C |
13: 76,125,853 (GRCm39) |
L112P |
probably damaging |
Het |
| Stk24 |
A |
T |
14: 121,529,527 (GRCm39) |
L375Q |
probably null |
Het |
| Svip |
A |
G |
7: 51,655,509 (GRCm39) |
S11P |
possibly damaging |
Het |
| Taf13 |
T |
C |
3: 108,488,500 (GRCm39) |
|
probably benign |
Het |
| Tex30 |
T |
C |
1: 44,127,683 (GRCm39) |
Y7C |
probably damaging |
Het |
| Tmem68 |
T |
C |
4: 3,569,361 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
C |
4: 63,918,344 (GRCm39) |
E1189G |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,365,688 (GRCm38) |
S4P |
possibly damaging |
Het |
| Trav3-3 |
C |
A |
14: 53,903,822 (GRCm39) |
L47I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,733,557 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,323,811 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrrc56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02619:Lrrc56
|
APN |
7 |
140,787,546 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03290:Lrrc56
|
APN |
7 |
140,779,685 (GRCm39) |
splice site |
probably benign |
|
|
IGL03348:Lrrc56
|
APN |
7 |
140,787,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0624:Lrrc56
|
UTSW |
7 |
140,786,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1333:Lrrc56
|
UTSW |
7 |
140,778,177 (GRCm39) |
intron |
probably benign |
|
|
R1385:Lrrc56
|
UTSW |
7 |
140,785,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Lrrc56
|
UTSW |
7 |
140,787,421 (GRCm39) |
missense |
probably benign |
|
|
R1858:Lrrc56
|
UTSW |
7 |
140,787,421 (GRCm39) |
missense |
probably benign |
|
|
R1859:Lrrc56
|
UTSW |
7 |
140,787,421 (GRCm39) |
missense |
probably benign |
|
|
R2234:Lrrc56
|
UTSW |
7 |
140,778,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2324:Lrrc56
|
UTSW |
7 |
140,785,476 (GRCm39) |
splice site |
probably benign |
|
|
R3807:Lrrc56
|
UTSW |
7 |
140,789,298 (GRCm39) |
missense |
probably benign |
|
|
R5347:Lrrc56
|
UTSW |
7 |
140,789,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6194:Lrrc56
|
UTSW |
7 |
140,785,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7273:Lrrc56
|
UTSW |
7 |
140,789,578 (GRCm39) |
missense |
probably benign |
|
|
R7500:Lrrc56
|
UTSW |
7 |
140,789,443 (GRCm39) |
missense |
probably benign |
|
|
R7799:Lrrc56
|
UTSW |
7 |
140,789,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Lrrc56
|
UTSW |
7 |
140,775,819 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8725:Lrrc56
|
UTSW |
7 |
140,778,246 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9803:Lrrc56
|
UTSW |
7 |
140,787,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation