Incidental Mutation 'IGL03110:Lrrc31'
ID |
419149 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc31
|
Ensembl Gene |
ENSMUSG00000074653 |
Gene Name |
leucine rich repeat containing 31 |
Synonyms |
E230002P03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL03110
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30733207-30753992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30733415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 433
(E433G)
|
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
AA Change: E433G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000120802 Gene: ENSMUSG00000074653 AA Change: E433G
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,333,295 (GRCm39) |
E473G |
probably damaging |
Het |
Acp7 |
T |
C |
7: 28,310,464 (GRCm39) |
M458V |
probably benign |
Het |
Acrbp |
G |
T |
6: 125,039,436 (GRCm39) |
C485F |
probably damaging |
Het |
Actn2 |
T |
C |
13: 12,324,493 (GRCm39) |
I117V |
probably benign |
Het |
Ahr |
T |
C |
12: 35,554,970 (GRCm39) |
E383G |
probably damaging |
Het |
Cacna2d4 |
A |
T |
6: 119,213,698 (GRCm39) |
H39L |
probably benign |
Het |
Cdh11 |
G |
T |
8: 103,400,502 (GRCm39) |
N155K |
probably damaging |
Het |
Cldnd1 |
T |
A |
16: 58,549,959 (GRCm39) |
N47K |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,331,135 (GRCm39) |
D104E |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,988,674 (GRCm39) |
S3386T |
probably benign |
Het |
Galnt18 |
T |
A |
7: 111,147,920 (GRCm39) |
E352V |
probably benign |
Het |
Gm5407 |
T |
A |
16: 49,117,757 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1b2 |
T |
C |
14: 62,671,283 (GRCm39) |
|
probably benign |
Het |
Guf1 |
C |
A |
5: 69,715,820 (GRCm39) |
L87I |
probably damaging |
Het |
Hikeshi |
A |
G |
7: 89,585,034 (GRCm39) |
S57P |
probably damaging |
Het |
Igkv17-121 |
T |
A |
6: 68,013,851 (GRCm39) |
V17D |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,785,157 (GRCm39) |
V324A |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,105,981 (GRCm39) |
L2072Q |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,298,289 (GRCm39) |
L715* |
probably null |
Het |
Nbeal2 |
T |
G |
9: 110,460,501 (GRCm39) |
K1778Q |
probably damaging |
Het |
Or4c35 |
A |
T |
2: 89,808,493 (GRCm39) |
I124F |
probably damaging |
Het |
Or51a39 |
C |
A |
7: 102,363,090 (GRCm39) |
G177C |
probably damaging |
Het |
Or5m3 |
T |
A |
2: 85,838,942 (GRCm39) |
V274E |
probably damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,722,064 (GRCm39) |
|
probably benign |
Het |
Prss37 |
T |
C |
6: 40,495,984 (GRCm39) |
Y6C |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,586,915 (GRCm39) |
Q1602R |
probably damaging |
Het |
Rbm15b |
T |
C |
9: 106,763,173 (GRCm39) |
T332A |
probably damaging |
Het |
S100a7l2 |
C |
T |
3: 90,995,626 (GRCm39) |
R92H |
unknown |
Het |
Snrnp70 |
C |
A |
7: 45,026,283 (GRCm39) |
|
probably benign |
Het |
Spidr |
T |
C |
16: 15,707,618 (GRCm39) |
E893G |
probably damaging |
Het |
Stxbp2 |
T |
C |
8: 3,683,342 (GRCm39) |
I74T |
probably damaging |
Het |
Tgm2 |
G |
A |
2: 157,973,410 (GRCm39) |
Q234* |
probably null |
Het |
Thbd |
T |
C |
2: 148,248,716 (GRCm39) |
D384G |
probably benign |
Het |
Zan |
T |
C |
5: 137,418,278 (GRCm39) |
N2940S |
unknown |
Het |
Zmat3 |
T |
A |
3: 32,399,701 (GRCm39) |
N100I |
probably damaging |
Het |
|
Other mutations in Lrrc31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2016-08-02 |