Incidental Mutation 'R2324:Lrrc56'
| ID |
244849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc56
|
| Ensembl Gene |
ENSMUSG00000038637 |
| Gene Name |
leucine rich repeat containing 56 |
| Synonyms |
5730427C23Rik |
| MMRRC Submission |
040315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R2324 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140774070-140789968 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 140785476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026573]
[ENSMUST00000047093]
[ENSMUST00000070458]
[ENSMUST00000084446]
[ENSMUST00000170841]
[ENSMUST00000209220]
|
| AlphaFold |
Q8K375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026573
|
| SMART Domains |
Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
114 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
298 |
N/A |
INTRINSIC |
|
Pfam:LTD
|
375 |
482 |
1.3e-13 |
PFAM |
|
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000144199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170841
|
| SMART Domains |
Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
124 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
296 |
308 |
N/A |
INTRINSIC |
|
SCOP:d1ifra_
|
385 |
487 |
1e-22 |
SMART |
|
low complexity region
|
577 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209220
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
| Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
| Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
| Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
| Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
| Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
| Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
| Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
| Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
|
|
IGL02886:Lrrc56
|
APN |
7 |
140,777,090 (GRCm39) |
splice site |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGCACTGGATCACTTAC -3'
(R):5'- AGGTCCTCCACATTGTTGC -3'
Sequencing Primer
(F):5'- GTGGAAGTTTGCTCACATCTAAGC -3'
(R):5'- ACATTGTTGCCCTCCAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation