Incidental Mutation 'IGL01289:Lrriq4'
| ID |
72839 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrriq4
|
| Ensembl Gene |
ENSMUSG00000027703 |
| Gene Name |
leucine-rich repeats and IQ motif containing 4 |
| Synonyms |
4930558O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30698656-30726580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30704542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 190
(L190Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029252]
[ENSMUST00000108265]
[ENSMUST00000108267]
[ENSMUST00000172350]
|
| AlphaFold |
A6H6A4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029252
|
| SMART Domains |
Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
73 |
100 |
2.23e2 |
SMART |
|
LRR
|
101 |
128 |
6.92e-1 |
SMART |
|
LRR
|
129 |
156 |
1.78e0 |
SMART |
|
LRR
|
157 |
184 |
1.67e-2 |
SMART |
|
Blast:LRR
|
216 |
242 |
2e-9 |
BLAST |
|
LRR
|
244 |
271 |
2.57e-3 |
SMART |
|
LRR
|
272 |
299 |
5.59e-4 |
SMART |
|
LRR
|
301 |
328 |
4.16e0 |
SMART |
|
LRR
|
329 |
356 |
1.66e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108265
AA Change: L175Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: L175Q
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
68 |
90 |
7.05e-1 |
SMART |
|
LRR
|
91 |
114 |
1.19e1 |
SMART |
|
Pfam:LRR_7
|
115 |
133 |
1.1e-1 |
PFAM |
|
LRR
|
138 |
161 |
9.75e0 |
SMART |
|
LRR
|
162 |
185 |
8.72e0 |
SMART |
|
LRR
|
208 |
230 |
3.47e0 |
SMART |
|
LRR
|
231 |
254 |
9.3e-1 |
SMART |
|
LRR
|
255 |
276 |
1.22e2 |
SMART |
|
LRR
|
277 |
300 |
4.83e0 |
SMART |
|
LRR
|
323 |
345 |
6.22e0 |
SMART |
|
LRR
|
346 |
368 |
6.4e0 |
SMART |
|
LRR
|
369 |
392 |
1.51e0 |
SMART |
|
LRR
|
418 |
440 |
2.03e1 |
SMART |
|
LRR
|
441 |
464 |
2.82e0 |
SMART |
|
IQ
|
524 |
546 |
8.84e-3 |
SMART |
|
low complexity region
|
553 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108267
AA Change: L190Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: L190Q
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
83 |
105 |
7.05e-1 |
SMART |
|
LRR
|
106 |
129 |
1.19e1 |
SMART |
|
Pfam:LRR_7
|
130 |
148 |
1.2e-1 |
PFAM |
|
LRR
|
153 |
176 |
9.75e0 |
SMART |
|
LRR
|
177 |
200 |
8.72e0 |
SMART |
|
LRR
|
223 |
245 |
3.47e0 |
SMART |
|
LRR
|
246 |
269 |
9.3e-1 |
SMART |
|
LRR
|
270 |
291 |
1.22e2 |
SMART |
|
LRR
|
292 |
315 |
4.83e0 |
SMART |
|
LRR
|
338 |
360 |
6.22e0 |
SMART |
|
LRR
|
361 |
383 |
6.4e0 |
SMART |
|
LRR
|
384 |
407 |
1.51e0 |
SMART |
|
LRR
|
433 |
455 |
2.03e1 |
SMART |
|
LRR
|
456 |
479 |
2.82e0 |
SMART |
|
IQ
|
539 |
561 |
8.84e-3 |
SMART |
|
low complexity region
|
568 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172350
AA Change: L190Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: L190Q
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
83 |
105 |
7.05e-1 |
SMART |
|
LRR
|
106 |
129 |
1.19e1 |
SMART |
|
LRR
|
153 |
176 |
9.75e0 |
SMART |
|
LRR
|
177 |
200 |
8.72e0 |
SMART |
|
LRR
|
223 |
245 |
3.47e0 |
SMART |
|
LRR
|
246 |
269 |
9.3e-1 |
SMART |
|
LRR
|
270 |
291 |
1.22e2 |
SMART |
|
LRR
|
292 |
315 |
4.83e0 |
SMART |
|
LRR
|
338 |
360 |
6.22e0 |
SMART |
|
LRR
|
361 |
383 |
6.4e0 |
SMART |
|
LRR
|
384 |
407 |
1.51e0 |
SMART |
|
LRR
|
433 |
455 |
2.03e1 |
SMART |
|
LRR
|
456 |
479 |
2.82e0 |
SMART |
|
IQ
|
539 |
561 |
8.84e-3 |
SMART |
|
low complexity region
|
568 |
596 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Nmd3 |
T |
G |
3: 69,631,620 (GRCm39) |
S25R |
possibly damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
| Other mutations in Lrriq4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Lrriq4
|
APN |
3 |
30,705,104 (GRCm39) |
splice site |
probably null |
|
|
IGL02130:Lrriq4
|
APN |
3 |
30,704,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02614:Lrriq4
|
APN |
3 |
30,709,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Lrriq4
|
UTSW |
3 |
30,709,873 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1340:Lrriq4
|
UTSW |
3 |
30,704,472 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1440:Lrriq4
|
UTSW |
3 |
30,704,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Lrriq4
|
UTSW |
3 |
30,704,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1597:Lrriq4
|
UTSW |
3 |
30,705,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Lrriq4
|
UTSW |
3 |
30,704,401 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1923:Lrriq4
|
UTSW |
3 |
30,713,242 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4024:Lrriq4
|
UTSW |
3 |
30,704,422 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4026:Lrriq4
|
UTSW |
3 |
30,704,422 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4645:Lrriq4
|
UTSW |
3 |
30,704,892 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4816:Lrriq4
|
UTSW |
3 |
30,714,196 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5049:Lrriq4
|
UTSW |
3 |
30,705,086 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5105:Lrriq4
|
UTSW |
3 |
30,704,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Lrriq4
|
UTSW |
3 |
30,699,481 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5487:Lrriq4
|
UTSW |
3 |
30,714,144 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6147:Lrriq4
|
UTSW |
3 |
30,713,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6421:Lrriq4
|
UTSW |
3 |
30,704,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Lrriq4
|
UTSW |
3 |
30,709,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6624:Lrriq4
|
UTSW |
3 |
30,704,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7032:Lrriq4
|
UTSW |
3 |
30,709,850 (GRCm39) |
nonsense |
probably null |
|
|
R8111:Lrriq4
|
UTSW |
3 |
30,709,930 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8786:Lrriq4
|
UTSW |
3 |
30,704,752 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8862:Lrriq4
|
UTSW |
3 |
30,705,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Lrriq4
|
UTSW |
3 |
30,709,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9021:Lrriq4
|
UTSW |
3 |
30,704,401 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9720:Lrriq4
|
UTSW |
3 |
30,714,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lrriq4
|
UTSW |
3 |
30,704,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2013-10-07 |
Incidental Mutation