Incidental Mutation 'R2243:Lrrc31'
| ID |
240716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc31
|
| Ensembl Gene |
ENSMUSG00000074653 |
| Gene Name |
leucine rich repeat containing 31 |
| Synonyms |
E230002P03Rik |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
30733207-30753992 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 30739179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108263]
[ENSMUST00000126658]
|
| AlphaFold |
D3YY33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108263
|
| SMART Domains |
Protein: ENSMUSP00000103898
Gene: ENSMUSG00000074653
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
92 |
119 |
4.5e-2 |
SMART |
|
Blast:LRR
|
148 |
175 |
1e-8 |
BLAST |
|
LRR
|
176 |
203 |
2.6e-1 |
SMART |
|
LRR
|
204 |
231 |
6.7e-2 |
SMART |
|
LRR
|
260 |
287 |
1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126658
|
| SMART Domains |
Protein: ENSMUSP00000120802
Gene: ENSMUSG00000074653
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
92 |
119 |
4.4e-2 |
SMART |
|
Blast:LRR
|
148 |
175 |
2e-8 |
BLAST |
|
LRR
|
176 |
203 |
2.5e-1 |
SMART |
|
LRR
|
204 |
231 |
6.5e-2 |
SMART |
|
LRR
|
260 |
287 |
9.9e-2 |
SMART |
|
Pfam:LRR_6
|
288 |
307 |
8.2e-1 |
PFAM |
|
LRR
|
372 |
399 |
8e-3 |
SMART |
|
LRR
|
402 |
430 |
2.7e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133653
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Akap10 |
C |
A |
11: 61,806,327 (GRCm39) |
V134F |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dnaaf2 |
T |
G |
12: 69,243,418 (GRCm39) |
T548P |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,667,146 (GRCm39) |
Y128C |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,001 (GRCm39) |
M119K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Klhdc10 |
A |
G |
6: 30,449,558 (GRCm39) |
T207A |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Or2w3b |
G |
A |
11: 58,623,271 (GRCm39) |
T240M |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Lrrc31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03110:Lrrc31
|
APN |
3 |
30,733,415 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0285:Lrrc31
|
UTSW |
3 |
30,739,097 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0348:Lrrc31
|
UTSW |
3 |
30,743,377 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0418:Lrrc31
|
UTSW |
3 |
30,743,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Lrrc31
|
UTSW |
3 |
30,741,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Lrrc31
|
UTSW |
3 |
30,739,184 (GRCm39) |
splice site |
probably benign |
|
|
R2248:Lrrc31
|
UTSW |
3 |
30,744,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4093:Lrrc31
|
UTSW |
3 |
30,749,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Lrrc31
|
UTSW |
3 |
30,741,526 (GRCm39) |
intron |
probably benign |
|
|
R4805:Lrrc31
|
UTSW |
3 |
30,745,446 (GRCm39) |
nonsense |
probably null |
|
|
R4835:Lrrc31
|
UTSW |
3 |
30,733,306 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4893:Lrrc31
|
UTSW |
3 |
30,733,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4936:Lrrc31
|
UTSW |
3 |
30,743,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Lrrc31
|
UTSW |
3 |
30,744,085 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5135:Lrrc31
|
UTSW |
3 |
30,739,039 (GRCm39) |
nonsense |
probably null |
|
|
R5527:Lrrc31
|
UTSW |
3 |
30,745,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Lrrc31
|
UTSW |
3 |
30,743,994 (GRCm39) |
splice site |
probably null |
|
|
R5608:Lrrc31
|
UTSW |
3 |
30,743,994 (GRCm39) |
splice site |
probably null |
|
|
R5611:Lrrc31
|
UTSW |
3 |
30,745,304 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5865:Lrrc31
|
UTSW |
3 |
30,733,289 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6001:Lrrc31
|
UTSW |
3 |
30,745,318 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7583:Lrrc31
|
UTSW |
3 |
30,745,248 (GRCm39) |
splice site |
probably null |
|
|
R8358:Lrrc31
|
UTSW |
3 |
30,753,932 (GRCm39) |
start gained |
probably benign |
|
|
R8812:Lrrc31
|
UTSW |
3 |
30,733,328 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8955:Lrrc31
|
UTSW |
3 |
30,733,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Lrrc31
|
UTSW |
3 |
30,753,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9073:Lrrc31
|
UTSW |
3 |
30,753,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Lrrc31
|
UTSW |
3 |
30,743,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9691:Lrrc31
|
UTSW |
3 |
30,741,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9702:Lrrc31
|
UTSW |
3 |
30,735,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Lrrc31
|
UTSW |
3 |
30,743,428 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTACCAAGGGCTGCGAAAG -3'
(R):5'- CTTTTGCCTTCTAGTCTACAGAGAAC -3'
Sequencing Primer
(F):5'- TGGTAAAAACCGGAGCCT -3'
(R):5'- CCTTCTAGTCTACAGAGAACTTTGGG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation