Incidental Mutation 'IGL02130:Lrriq4'
ID |
281008 |
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 # |
IGL02130
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30698656-30726580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30704896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 293
(V293E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103900
(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: V293E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103900 Gene: ENSMUSG00000027703 AA Change: V293E
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: V308E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103902 Gene: ENSMUSG00000027703 AA Change: V308E
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: V308E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127052 Gene: ENSMUSG00000027703 AA Change: V308E
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn7l1 |
A |
T |
12: 33,392,141 (GRCm39) |
K239M |
probably damaging |
Het |
Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
Mbd3l1 |
A |
T |
9: 18,396,023 (GRCm39) |
R49S |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
N4bp3 |
T |
C |
11: 51,534,773 (GRCm39) |
E430G |
possibly damaging |
Het |
Olfml3 |
A |
G |
3: 103,644,283 (GRCm39) |
Y129H |
probably benign |
Het |
Or4c125 |
C |
A |
2: 89,169,927 (GRCm39) |
V240F |
probably damaging |
Het |
Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
Rnf103 |
T |
C |
6: 71,486,548 (GRCm39) |
L393S |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
possibly 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 |
|
IGL01289:Lrriq4
|
APN |
3 |
30,704,542 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |