Incidental Mutation 'R6421:Lrriq4'
ID |
518179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrriq4
|
Ensembl Gene |
ENSMUSG00000027703 |
Gene Name |
leucine-rich repeats and IQ motif containing 4 |
Synonyms |
4930558O21Rik |
MMRRC Submission |
044420-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R6421 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
30698656-30726580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30704551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 193
(L193P)
|
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: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103900 Gene: ENSMUSG00000027703 AA Change: L178P
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: L193P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103902 Gene: ENSMUSG00000027703 AA Change: L193P
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: L193P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127052 Gene: ENSMUSG00000027703 AA Change: L193P
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 |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
T |
17: 42,983,392 (GRCm39) |
F97I |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,656,855 (GRCm39) |
S2160P |
possibly damaging |
Het |
Anapc15-ps |
T |
C |
10: 95,509,076 (GRCm39) |
D68G |
probably benign |
Het |
Arel1 |
T |
C |
12: 84,981,119 (GRCm39) |
Y296C |
probably damaging |
Het |
Dcbld1 |
T |
C |
10: 52,162,450 (GRCm39) |
I147T |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,912,365 (GRCm39) |
T669I |
probably damaging |
Het |
Gm7276 |
T |
C |
18: 77,273,366 (GRCm39) |
|
probably benign |
Het |
Grin2c |
A |
C |
11: 115,141,956 (GRCm39) |
M821R |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,779,282 (GRCm39) |
C2587S |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,143,700 (GRCm39) |
S1011G |
probably benign |
Het |
Or6c6 |
A |
T |
10: 129,187,370 (GRCm39) |
K313* |
probably null |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Ptprj |
A |
G |
2: 90,301,484 (GRCm39) |
I123T |
possibly damaging |
Het |
Scn1a |
T |
G |
2: 66,103,271 (GRCm39) |
K1985N |
probably damaging |
Het |
Serpinb9f |
A |
C |
13: 33,518,516 (GRCm39) |
I339L |
probably benign |
Het |
Spata31e4 |
A |
G |
13: 50,855,987 (GRCm39) |
R542G |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Stx4a |
C |
A |
7: 127,445,673 (GRCm39) |
T193K |
probably damaging |
Het |
Traf3ip2 |
T |
C |
10: 39,515,400 (GRCm39) |
|
probably null |
Het |
Wwc2 |
A |
T |
8: 48,353,781 (GRCm39) |
Y118N |
probably damaging |
Het |
Xpo1 |
A |
G |
11: 23,241,490 (GRCm39) |
T846A |
possibly damaging |
Het |
Zfp616 |
A |
G |
11: 73,974,696 (GRCm39) |
N413D |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCCTGCAAGATCTGTGC -3'
(R):5'- TAGAACTTCTGCAGCCTCAC -3'
Sequencing Primer
(F):5'- AAGATCTGTGCCCGGAGCTG -3'
(R):5'- TCACCAGGTGCCCGATATC -3'
|
Posted On |
2018-05-24 |