Incidental Mutation 'R2313:Lrriq3'
| ID |
245368 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
154799071-154899917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154869660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 328
(R328S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029833]
[ENSMUST00000192383]
|
| AlphaFold |
Q14DL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029833
AA Change: R328S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
AA Change: R328S
| 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 benign
Transcript: ENSMUST00000192383
AA Change: R328S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
AA Change: R328S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4c122 |
C |
A |
2: 89,079,285 (GRCm39) |
C239F |
probably damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
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 |
|
|
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 |
|
R5406:Lrriq3
|
UTSW |
3 |
154,835,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- ACCTGGAGTTGAGAGGCAAACT -3'
(R):5'- TTACTGAGGGCATGGTGGC -3'
Sequencing Primer
(F):5'- CATTTGTCAAAGTGTTTTATCACAGC -3'
(R):5'- GGTCTACAGAGTGAGTTCCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation