Incidental Mutation 'R2880:Lrit1'
| ID |
260295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrit1
|
| Ensembl Gene |
ENSMUSG00000041044 |
| Gene Name |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 |
| Synonyms |
Lrrc21 |
| MMRRC Submission |
040468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
36776787-36786903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36779394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 109
(L109Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120052]
|
| AlphaFold |
Q8K099 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120052
AA Change: L109Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: L109Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
22 |
63 |
1.97e-3 |
SMART |
|
LRR
|
82 |
105 |
1.03e1 |
SMART |
|
LRR
|
106 |
129 |
3e1 |
SMART |
|
LRR
|
130 |
152 |
1.12e1 |
SMART |
|
LRR_TYP
|
154 |
177 |
4.47e-3 |
SMART |
|
LRRCT
|
201 |
253 |
2.04e-7 |
SMART |
|
IGc2
|
267 |
336 |
6.55e-8 |
SMART |
|
FN3
|
429 |
506 |
2.22e0 |
SMART |
|
transmembrane domain
|
531 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
608 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic communication of cone photoreceptors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
| Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
| Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
probably damaging |
Het |
|
| Other mutations in Lrit1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Lrit1
|
APN |
14 |
36,782,112 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01676:Lrit1
|
APN |
14 |
36,779,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02011:Lrit1
|
APN |
14 |
36,784,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Lrit1
|
UTSW |
14 |
36,783,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Lrit1
|
UTSW |
14 |
36,783,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Lrit1
|
UTSW |
14 |
36,782,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1444:Lrit1
|
UTSW |
14 |
36,783,928 (GRCm39) |
missense |
probably benign |
|
|
R1500:Lrit1
|
UTSW |
14 |
36,784,091 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1884:Lrit1
|
UTSW |
14 |
36,783,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4784:Lrit1
|
UTSW |
14 |
36,784,193 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4855:Lrit1
|
UTSW |
14 |
36,783,773 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5100:Lrit1
|
UTSW |
14 |
36,784,171 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5365:Lrit1
|
UTSW |
14 |
36,784,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5474:Lrit1
|
UTSW |
14 |
36,783,943 (GRCm39) |
missense |
probably benign |
|
|
R5475:Lrit1
|
UTSW |
14 |
36,776,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5614:Lrit1
|
UTSW |
14 |
36,783,911 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5688:Lrit1
|
UTSW |
14 |
36,784,385 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5926:Lrit1
|
UTSW |
14 |
36,776,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Lrit1
|
UTSW |
14 |
36,776,945 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6920:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6940:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6941:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6943:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6945:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6957:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6958:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6959:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6960:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6962:Lrit1
|
UTSW |
14 |
36,782,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7784:Lrit1
|
UTSW |
14 |
36,783,737 (GRCm39) |
missense |
probably benign |
|
|
R8124:Lrit1
|
UTSW |
14 |
36,784,005 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8952:Lrit1
|
UTSW |
14 |
36,783,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9106:Lrit1
|
UTSW |
14 |
36,776,891 (GRCm39) |
missense |
unknown |
|
|
R9297:Lrit1
|
UTSW |
14 |
36,783,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Lrit1
|
UTSW |
14 |
36,784,208 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9712:Lrit1
|
UTSW |
14 |
36,782,084 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTTCTGTGACCAGGACAG -3'
(R):5'- CTCATCAGCTGGTTATTGGACAGG -3'
Sequencing Primer
(F):5'- AGCGACCCTGACTTGACTCTG -3'
(R):5'- GTCCAGGAAAGTAAGGTTCTCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation