Incidental Mutation 'R1333:Lrrc56'
| ID |
156777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc56
|
| Ensembl Gene |
ENSMUSG00000038637 |
| Gene Name |
leucine rich repeat containing 56 |
| Synonyms |
5730427C23Rik |
| MMRRC Submission |
039398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140774070-140789968 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 140778177 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]
[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: ENSMUST00000124971
|
| SMART Domains |
Protein: ENSMUSP00000138189
Gene: ENSMUSG00000025499
| Domain | Start | End | E-Value | Type |
|---|
|
RAS
|
1 |
108 |
4.18e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128993
|
| 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 |
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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc63 |
T |
C |
5: 122,246,224 (GRCm39) |
T566A |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
| Ctns |
G |
A |
11: 73,075,823 (GRCm39) |
T342I |
probably benign |
Het |
| Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
| Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
G |
T |
10: 49,404,087 (GRCm39) |
T258N |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
| Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,380,991 (GRCm39) |
V231A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
| Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat6 |
G |
C |
10: 127,487,094 (GRCm39) |
R200S |
possibly damaging |
Het |
| Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
| Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,615 (GRCm39) |
I230T |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGCTCCCCAAGGTATCCACTG -3'
(R):5'- ACATGCTGCCCAAGGTGTTTGC -3'
Sequencing Primer
(F):5'- CTGAAGATCTCATCTGGAGACTG -3'
(R):5'- TTTACAACCAGGAAATACAATTGGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation