Incidental Mutation 'R4645:Lrriq4'
ID |
350155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrriq4
|
Ensembl Gene |
ENSMUSG00000027703 |
Gene Name |
leucine-rich repeats and IQ motif containing 4 |
Synonyms |
4930558O21Rik |
MMRRC Submission |
041906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R4645 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
30698656-30726580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30704892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 292
(K292E)
|
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 benign
Transcript: ENSMUST00000108265
AA Change: K292E
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103900 Gene: ENSMUSG00000027703 AA Change: K292E
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: K307E
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103902 Gene: ENSMUSG00000027703 AA Change: K307E
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: K307E
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127052 Gene: ENSMUSG00000027703 AA Change: K307E
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 |
0.1891 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,635,700 (GRCm39) |
E101G |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,748,416 (GRCm39) |
E29G |
probably damaging |
Het |
Agfg2 |
T |
A |
5: 137,682,854 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
A |
G |
3: 103,728,765 (GRCm39) |
S468G |
probably benign |
Het |
AY702103 |
G |
T |
17: 50,546,941 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc14 |
T |
C |
16: 34,542,110 (GRCm39) |
L536S |
probably damaging |
Het |
Ccr9 |
G |
T |
9: 123,608,658 (GRCm39) |
M101I |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,800,957 (GRCm39) |
V2496E |
probably benign |
Het |
Celsr2 |
C |
A |
3: 108,303,285 (GRCm39) |
G2486V |
probably damaging |
Het |
Cntnap3 |
A |
G |
13: 64,926,602 (GRCm39) |
|
probably null |
Het |
Erlin1 |
T |
C |
19: 44,057,759 (GRCm39) |
Y22C |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,334,189 (GRCm39) |
T1002A |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Glud1 |
T |
C |
14: 34,033,063 (GRCm39) |
V70A |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,842 (GRCm39) |
|
probably benign |
Het |
Immt |
T |
C |
6: 71,833,923 (GRCm39) |
L184P |
probably damaging |
Het |
Iqsec1 |
T |
G |
6: 90,644,995 (GRCm39) |
K983T |
probably damaging |
Het |
Klhl6 |
A |
T |
16: 19,765,897 (GRCm39) |
N568K |
probably damaging |
Het |
Lbhd1 |
T |
G |
19: 8,861,452 (GRCm39) |
|
probably benign |
Het |
Lrit2 |
C |
T |
14: 36,794,432 (GRCm39) |
R499C |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,461,213 (GRCm39) |
D748G |
probably damaging |
Het |
Ly96 |
G |
T |
1: 16,761,940 (GRCm39) |
E49* |
probably null |
Het |
Lztr1 |
C |
T |
16: 17,341,955 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
A |
G |
9: 7,347,515 (GRCm39) |
M31V |
probably benign |
Het |
Mok |
A |
T |
12: 110,774,873 (GRCm39) |
|
probably benign |
Het |
Mpi |
T |
C |
9: 57,458,040 (GRCm39) |
H54R |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Or4c101 |
T |
C |
2: 88,390,722 (GRCm39) |
I292T |
probably damaging |
Het |
Pomt1 |
G |
T |
2: 32,132,888 (GRCm39) |
|
probably benign |
Het |
Ptpn20 |
G |
A |
14: 33,353,169 (GRCm39) |
V303I |
probably benign |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Shank2 |
A |
G |
7: 143,964,159 (GRCm39) |
K799R |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,860,093 (GRCm39) |
T652S |
probably benign |
Het |
Slc8a2 |
C |
T |
7: 15,868,164 (GRCm39) |
T132I |
probably damaging |
Het |
Spaca6 |
A |
T |
17: 18,056,307 (GRCm39) |
|
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tenm4 |
G |
T |
7: 96,544,949 (GRCm39) |
G2322W |
probably damaging |
Het |
Thap1 |
A |
G |
8: 26,652,597 (GRCm39) |
T135A |
probably damaging |
Het |
Traf3 |
T |
C |
12: 111,228,400 (GRCm39) |
V537A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,578,680 (GRCm39) |
D24071G |
probably damaging |
Het |
Tysnd1 |
G |
T |
10: 61,531,962 (GRCm39) |
V205L |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,079,081 (GRCm39) |
S1749P |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,162 (GRCm39) |
*846C |
probably null |
Het |
Vmn2r74 |
C |
T |
7: 85,606,317 (GRCm39) |
S343N |
probably benign |
Het |
Zfyve28 |
T |
G |
5: 34,379,787 (GRCm39) |
|
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,165,764 (GRCm39) |
S696P |
probably damaging |
Het |
Zscan4e |
T |
C |
7: 11,041,002 (GRCm39) |
Y290C |
possibly damaging |
Het |
Zswim2 |
G |
T |
2: 83,745,891 (GRCm39) |
H516N |
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 |
R4026:Lrriq4
|
UTSW |
3 |
30,704,422 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- TCGACCTGGACGAAAACAAG -3'
(R):5'- GTTCTTGAGCGCGCAAATC -3'
Sequencing Primer
(F):5'- TGAAGAGCATCCCCGGAGATATC -3'
(R):5'- ATCTGCACGGGAAAGTGTTC -3'
|
Posted On |
2015-10-08 |