Incidental Mutation 'R6001:Lrrc31'
| ID |
480819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc31
|
| Ensembl Gene |
ENSMUSG00000074653 |
| Gene Name |
leucine rich repeat containing 31 |
| Synonyms |
E230002P03Rik |
| MMRRC Submission |
044180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
30733207-30753992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30745318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 110
(V110I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108263]
[ENSMUST00000126658]
|
| AlphaFold |
D3YY33 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108263
AA Change: V110I
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103898
Gene: ENSMUSG00000074653
AA Change: V110I
| 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 |
possibly damaging
Transcript: ENSMUST00000126658
AA Change: V110I
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120802
Gene: ENSMUSG00000074653
AA Change: V110I
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,075,555 (GRCm39) |
R999S |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,962,717 (GRCm39) |
Y503N |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,941 (GRCm39) |
E324G |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atl1 |
A |
T |
12: 69,979,057 (GRCm39) |
T162S |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,770,728 (GRCm39) |
Y394H |
probably damaging |
Het |
| Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
| Dhx16 |
G |
T |
17: 36,194,766 (GRCm39) |
M462I |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,784,486 (GRCm39) |
Y253C |
probably damaging |
Het |
| Hsf4 |
G |
A |
8: 105,999,541 (GRCm39) |
G277R |
possibly damaging |
Het |
| Impg1 |
T |
C |
9: 80,223,454 (GRCm39) |
D754G |
probably benign |
Het |
| Keap1 |
T |
C |
9: 21,142,135 (GRCm39) |
S580G |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,441,481 (GRCm39) |
K1162E |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,426,118 (GRCm39) |
K4738N |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,542,794 (GRCm39) |
|
probably null |
Het |
| Odad2 |
T |
C |
18: 7,286,838 (GRCm39) |
D131G |
probably benign |
Het |
| Or10q1b |
A |
G |
19: 13,682,424 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,179 (GRCm39) |
M106K |
probably damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,340 (GRCm39) |
Y132F |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,878,740 (GRCm39) |
H1225L |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,583,606 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Psen2 |
C |
A |
1: 180,073,234 (GRCm39) |
R29L |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,594,307 (GRCm39) |
|
probably null |
Het |
| Rps13 |
T |
C |
7: 115,930,808 (GRCm39) |
T145A |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
ACGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,544,205 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,136,026 (GRCm39) |
E445V |
probably damaging |
Het |
| Taf13 |
T |
A |
3: 108,488,387 (GRCm39) |
I90N |
probably damaging |
Het |
| Tas2r124 |
T |
A |
6: 132,732,416 (GRCm39) |
Y242N |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,619,573 (GRCm39) |
T316A |
unknown |
Het |
| Zbtb44 |
T |
C |
9: 30,965,090 (GRCm39) |
C167R |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,676,236 (GRCm39) |
L714P |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,816 (GRCm39) |
H53Q |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,819,043 (GRCm39) |
V1340A |
probably benign |
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 |
|
|
R2243:Lrrc31
|
UTSW |
3 |
30,739,179 (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 |
|
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'- TGCCCAGTTGTGCACATAAAC -3'
(R):5'- ACACACAGGTCTGCATCCTC -3'
Sequencing Primer
(F):5'- AATAACCTCTAGTTTGGTCCTTCAGG -3'
(R):5'- ACACAGGTCTGCATCCTCTTCTG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation