Incidental Mutation 'R5365:Lrit1'
| ID |
423096 |
| 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 |
042943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
36776787-36786903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36784099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 476
(T476A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120052]
|
| AlphaFold |
Q8K099 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120052
AA Change: T476A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: T476A
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,578,629 (GRCm39) |
E4877G |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,840,589 (GRCm39) |
A391T |
probably damaging |
Het |
| Bcan |
T |
C |
3: 87,896,542 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,329,666 (GRCm39) |
|
probably benign |
Het |
| Bpnt2 |
G |
A |
4: 4,776,385 (GRCm39) |
T190I |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,134,888 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,493,473 (GRCm39) |
Y832C |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,653,846 (GRCm39) |
|
probably null |
Het |
| Cpt1b |
A |
T |
15: 89,304,310 (GRCm39) |
I480N |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,868,145 (GRCm39) |
T792A |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,185,632 (GRCm39) |
I170F |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,138,457 (GRCm39) |
S772P |
probably damaging |
Het |
| Cyp3a16 |
A |
C |
5: 145,389,597 (GRCm39) |
M256R |
probably damaging |
Het |
| Dgkd |
C |
T |
1: 87,863,138 (GRCm39) |
R62C |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,408,223 (GRCm39) |
L67P |
probably damaging |
Het |
| Gpc2 |
A |
G |
5: 138,273,885 (GRCm39) |
Y438H |
probably damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,080 (GRCm39) |
H145Q |
probably benign |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,433 (GRCm39) |
S116P |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,904,522 (GRCm39) |
I332V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,537,137 (GRCm39) |
H50R |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,258 (GRCm39) |
V178A |
possibly damaging |
Het |
| Mbtps2 |
G |
A |
X: 156,351,295 (GRCm39) |
T157M |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Mill2 |
T |
C |
7: 18,592,339 (GRCm39) |
V320A |
probably benign |
Het |
| Mtor |
G |
A |
4: 148,634,587 (GRCm39) |
V2403M |
probably damaging |
Het |
| Nectin3 |
T |
A |
16: 46,284,469 (GRCm39) |
K71* |
probably null |
Het |
| Or2g25 |
T |
A |
17: 37,970,586 (GRCm39) |
I213F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,539,144 (GRCm39) |
Y1090C |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,331,136 (GRCm39) |
V62E |
possibly damaging |
Het |
| Pla1a |
A |
G |
16: 38,237,569 (GRCm39) |
L43P |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Sbno1 |
TCCC |
TCC |
5: 124,519,929 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
A |
C |
9: 122,895,866 (GRCm39) |
K223N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,744,990 (GRCm39) |
A5353E |
probably damaging |
Het |
| Ywhaq |
T |
C |
12: 21,446,389 (GRCm39) |
E159G |
possibly damaging |
Het |
| Zdhhc12 |
A |
G |
2: 29,983,521 (GRCm39) |
V27A |
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 |
|
R2880:Lrit1
|
UTSW |
14 |
36,779,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CATAAAGGAGGAGCTGGCTCTC -3'
(R):5'- ACGCTGATCACCACCATGTTG -3'
Sequencing Primer
(F):5'- GCTCTCCAGAACTTTCAGATGGATG -3'
(R):5'- ACCACCATGTTGATGAGTCG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation