Incidental Mutation 'IGL03272:Lrriq3'
| ID |
415303 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.089)
|
| Stock # |
IGL03272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
154799071-154899917 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154806695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 115
(I115F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029833]
[ENSMUST00000192383]
[ENSMUST00000194376]
|
| AlphaFold |
Q14DL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029833
AA Change: I115F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
AA Change: I115F
| 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 damaging
Transcript: ENSMUST00000192383
AA Change: I115F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
AA Change: I115F
| 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 damaging
Transcript: ENSMUST00000194376
AA Change: I115F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182
AA Change: I115F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195418
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
C |
T |
2: 91,034,578 (GRCm39) |
|
probably benign |
Het |
| B4galnt3 |
T |
C |
6: 120,193,267 (GRCm39) |
D413G |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,102,914 (GRCm39) |
D1357G |
possibly damaging |
Het |
| Dsg1b |
T |
C |
18: 20,530,446 (GRCm39) |
L367P |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,242,969 (GRCm39) |
F1057I |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,334,944 (GRCm39) |
F64L |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 39,063,852 (GRCm39) |
S4603P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,658,668 (GRCm39) |
T503A |
probably benign |
Het |
| Gpr141b |
A |
T |
13: 19,913,707 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,227,419 (GRCm39) |
T1579A |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,024,680 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,965,419 (GRCm39) |
D1149G |
probably damaging |
Het |
| Mylk |
A |
C |
16: 34,799,559 (GRCm39) |
K1650Q |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,334,000 (GRCm39) |
|
probably benign |
Het |
| Or5h25 |
A |
C |
16: 58,930,919 (GRCm39) |
V18G |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,888,641 (GRCm39) |
D332E |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,724,049 (GRCm39) |
I296K |
possibly damaging |
Het |
| Psd4 |
A |
G |
2: 24,295,692 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,884,802 (GRCm39) |
Q433R |
probably damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,511,899 (GRCm39) |
N134I |
probably damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,689,048 (GRCm39) |
N124S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,710 (GRCm39) |
N1360S |
probably benign |
Het |
| Strc |
G |
A |
2: 121,202,232 (GRCm39) |
T1212I |
probably damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,292,942 (GRCm39) |
K472R |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation