Incidental Mutation 'R5406:Lrriq3'
| ID |
457870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrriq3
|
| Ensembl Gene |
ENSMUSG00000028182 |
| Gene Name |
leucine-rich repeats and IQ motif containing 3 |
| Synonyms |
4930511J15Rik, 4930438B07Rik, Lrrc44, 4933403H06Rik |
| MMRRC Submission |
042976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154799071-154899917 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 154835138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029833]
[ENSMUST00000192383]
[ENSMUST00000194376]
|
| AlphaFold |
Q14DL3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029833
|
| SMART Domains |
Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dcea3
|
36 |
155 |
3e-14 |
SMART |
|
Blast:LRR
|
71 |
94 |
3e-6 |
BLAST |
|
Blast:LRR
|
96 |
118 |
1e-5 |
BLAST |
|
IQ
|
214 |
236 |
3.68e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192383
|
| SMART Domains |
Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
50 |
109 |
9e-9 |
PFAM |
|
Pfam:LRR_4
|
72 |
117 |
1.9e-8 |
PFAM |
|
Pfam:LRR_1
|
73 |
94 |
5.1e-3 |
PFAM |
|
IQ
|
214 |
236 |
3.68e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194376
|
| SMART Domains |
Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
50 |
109 |
7.2e-9 |
PFAM |
|
Pfam:LRR_4
|
72 |
117 |
1.5e-8 |
PFAM |
|
Pfam:LRR_1
|
73 |
94 |
4.2e-3 |
PFAM |
|
IQ
|
214 |
236 |
3.68e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,387 (GRCm39) |
V17D |
probably damaging |
Het |
| Abcb1a |
C |
A |
5: 8,752,946 (GRCm39) |
Q566K |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,022,141 (GRCm39) |
C450S |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,418 (GRCm39) |
P433L |
probably damaging |
Het |
| Aldh1a2 |
G |
T |
9: 71,162,403 (GRCm39) |
A151S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,242,066 (GRCm39) |
H69L |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,872,771 (GRCm39) |
Y600* |
probably null |
Het |
| Blk |
C |
A |
14: 63,618,180 (GRCm39) |
G242V |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,677,831 (GRCm39) |
M1K |
probably null |
Het |
| Catsperg1 |
G |
A |
7: 28,884,948 (GRCm39) |
T891M |
probably damaging |
Het |
| Ccdc32 |
A |
C |
2: 118,852,560 (GRCm39) |
S131A |
possibly damaging |
Het |
| Cdh8 |
A |
G |
8: 99,923,002 (GRCm39) |
V298A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,837,720 (GRCm39) |
Q1060L |
probably benign |
Het |
| Cfap58 |
G |
A |
19: 48,017,541 (GRCm39) |
M800I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,833,465 (GRCm39) |
V362D |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,449 (GRCm39) |
S699P |
probably damaging |
Het |
| Gbp4 |
G |
T |
5: 105,267,387 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Gdap2 |
T |
A |
3: 100,098,991 (GRCm39) |
I361N |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,245,819 (GRCm39) |
H92L |
probably benign |
Het |
| Lipo4 |
A |
G |
19: 33,480,618 (GRCm39) |
V250A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,604,010 (GRCm39) |
R1055W |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,899,731 (GRCm39) |
V317A |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,713,541 (GRCm39) |
T134I |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,183,122 (GRCm39) |
|
probably null |
Het |
| Nup214 |
C |
A |
2: 31,892,619 (GRCm39) |
P680T |
probably damaging |
Het |
| Or6c212 |
G |
A |
10: 129,558,799 (GRCm39) |
L205F |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,124,454 (GRCm39) |
K270E |
probably benign |
Het |
| Or8b12 |
A |
G |
9: 37,657,943 (GRCm39) |
N171S |
probably benign |
Het |
| Or8b9 |
G |
A |
9: 37,766,515 (GRCm39) |
V134I |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,628,198 (GRCm39) |
F424S |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,499,259 (GRCm39) |
D1074G |
probably damaging |
Het |
| Ppm1l |
T |
C |
3: 69,224,927 (GRCm39) |
S10P |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,634 (GRCm39) |
H2281R |
probably damaging |
Het |
| Rpa2 |
G |
T |
4: 132,503,559 (GRCm39) |
A3S |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,101,096 (GRCm39) |
V698A |
possibly damaging |
Het |
| Saxo2 |
A |
T |
7: 82,284,586 (GRCm39) |
C91S |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,685,406 (GRCm39) |
D198G |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,592 (GRCm39) |
E314D |
probably benign |
Het |
| Sptlc3 |
T |
C |
2: 139,388,398 (GRCm39) |
V130A |
probably benign |
Het |
| Stpg3 |
C |
A |
2: 25,103,580 (GRCm39) |
E115* |
probably null |
Het |
| Tbcd |
T |
A |
11: 121,342,927 (GRCm39) |
D19E |
probably benign |
Het |
| Xrcc3 |
T |
C |
12: 111,778,545 (GRCm39) |
D2G |
probably damaging |
Het |
|
| Other mutations in Lrriq3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Lrriq3
|
APN |
3 |
154,806,698 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL00468:Lrriq3
|
APN |
3 |
154,806,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03272:Lrriq3
|
APN |
3 |
154,806,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT1430001:Lrriq3
|
UTSW |
3 |
154,804,507 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0526:Lrriq3
|
UTSW |
3 |
154,893,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0600:Lrriq3
|
UTSW |
3 |
154,893,373 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1420:Lrriq3
|
UTSW |
3 |
154,893,349 (GRCm39) |
missense |
probably benign |
|
|
R2313:Lrriq3
|
UTSW |
3 |
154,869,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4024:Lrriq3
|
UTSW |
3 |
154,893,939 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4659:Lrriq3
|
UTSW |
3 |
154,835,090 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4801:Lrriq3
|
UTSW |
3 |
154,893,607 (GRCm39) |
missense |
probably benign |
|
|
R4802:Lrriq3
|
UTSW |
3 |
154,893,607 (GRCm39) |
missense |
probably benign |
|
|
R4864:Lrriq3
|
UTSW |
3 |
154,893,447 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4998:Lrriq3
|
UTSW |
3 |
154,893,695 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5120:Lrriq3
|
UTSW |
3 |
154,835,021 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5319:Lrriq3
|
UTSW |
3 |
154,835,108 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5943:Lrriq3
|
UTSW |
3 |
154,869,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6184:Lrriq3
|
UTSW |
3 |
154,835,039 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6572:Lrriq3
|
UTSW |
3 |
154,887,312 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7389:Lrriq3
|
UTSW |
3 |
154,893,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7537:Lrriq3
|
UTSW |
3 |
154,806,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7636:Lrriq3
|
UTSW |
3 |
154,893,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Lrriq3
|
UTSW |
3 |
154,804,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8038:Lrriq3
|
UTSW |
3 |
154,869,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8361:Lrriq3
|
UTSW |
3 |
154,806,855 (GRCm39) |
nonsense |
probably null |
|
|
R8439:Lrriq3
|
UTSW |
3 |
154,893,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8771:Lrriq3
|
UTSW |
3 |
154,899,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Lrriq3
|
UTSW |
3 |
154,893,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Lrriq3
|
UTSW |
3 |
154,893,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9134:Lrriq3
|
UTSW |
3 |
154,820,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9792:Lrriq3
|
UTSW |
3 |
154,893,313 (GRCm39) |
missense |
probably benign |
|
|
R9793:Lrriq3
|
UTSW |
3 |
154,893,313 (GRCm39) |
missense |
probably benign |
|
|
R9795:Lrriq3
|
UTSW |
3 |
154,893,313 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACACTGGACTCTCACTGTG -3'
(R):5'- TTACAGAGTGAGCACGGTGC -3'
Sequencing Primer
(F):5'- TCTGCATAGGCAGAAGTG -3'
(R):5'- GCTAAAGCACCATAGAGTGCTATTC -3'
|
| Posted On |
2017-02-16 |
Incidental Mutation