Incidental Mutation 'R6624:Lrriq4'
| ID |
524649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrriq4
|
| Ensembl Gene |
ENSMUSG00000027703 |
| Gene Name |
leucine-rich repeats and IQ motif containing 4 |
| Synonyms |
4930558O21Rik |
| MMRRC Submission |
044746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6624 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
30698656-30726580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30704929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 319
(H319L)
|
| 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 benign
Transcript: ENSMUST00000108265
AA Change: H304L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: H304L
| 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 benign
Transcript: ENSMUST00000108267
AA Change: H319L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: H319L
| 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 benign
Transcript: ENSMUST00000172350
AA Change: H319L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: H319L
| 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 |
|
| Meta Mutation Damage Score |
0.0828 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
| Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,129 (GRCm39) |
S515P |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
| Ergic3 |
T |
A |
2: 155,858,818 (GRCm39) |
M286K |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,777,006 (GRCm39) |
A305T |
probably benign |
Het |
| Fam187b |
A |
G |
7: 30,676,612 (GRCm39) |
I40M |
probably benign |
Het |
| Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
| Iah1 |
C |
T |
12: 21,369,785 (GRCm39) |
Q100* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
| Pou4f3 |
A |
T |
18: 42,528,707 (GRCm39) |
I217F |
probably damaging |
Het |
| Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
| Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
| Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
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 |
|
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 |
|
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'- TGCAGAAGTTCTACGTGGCG -3'
(R):5'- TCCAGAAGGGAAGCAGTACC -3'
Sequencing Primer
(F):5'- CAGAAGTTCTACGTGGCGTCTAAC -3'
(R):5'- ACCTGCCTCACTTTGTTATCATCTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation