Incidental Mutation 'R4026:Lrriq4'
| ID |
312977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrriq4
|
| Ensembl Gene |
ENSMUSG00000027703 |
| Gene Name |
leucine-rich repeats and IQ motif containing 4 |
| Synonyms |
4930558O21Rik |
| MMRRC Submission |
040849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4026 (G1)
|
| Quality Score |
118 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
30698656-30726580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30704422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 150
(V150A)
|
| 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: V135A
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: V135A
| 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 |
possibly damaging
Transcript: ENSMUST00000108267
AA Change: V150A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: V150A
| 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 |
possibly damaging
Transcript: ENSMUST00000172350
AA Change: V150A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: V150A
| 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 |
0.2292 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,988,663 (GRCm39) |
V3316F |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,791,666 (GRCm39) |
M698T |
probably benign |
Het |
| Ces2g |
T |
A |
8: 105,691,377 (GRCm39) |
V171E |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,325,563 (GRCm39) |
S642N |
unknown |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,517,978 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
G |
A |
6: 131,144,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7929 |
T |
C |
14: 41,472,509 (GRCm39) |
K21E |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,598,120 (GRCm39) |
D1727E |
probably benign |
Het |
| Micu3 |
A |
G |
8: 40,812,496 (GRCm39) |
|
probably benign |
Het |
| Mrpl3 |
T |
C |
9: 104,948,685 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,295 (GRCm39) |
I265V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,598,720 (GRCm39) |
T68A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,668,908 (GRCm39) |
V118A |
probably benign |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Srsf6 |
T |
A |
2: 162,776,211 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,301 (GRCm39) |
E650K |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trav4-2 |
T |
A |
14: 53,656,287 (GRCm39) |
D96E |
possibly damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,500 (GRCm39) |
M1T |
probably null |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,577,721 (GRCm39) |
S1131P |
possibly damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATCCCGTCAGAGATTTTGG -3'
(R):5'- CAGGTAGATCTCCCTGAGCTTG -3'
Sequencing Primer
(F):5'- CCCGTCAGAGATTTTGGCATTAAAAG -3'
(R):5'- AGATCTCCCTGAGCTTGGTTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation