Incidental Mutation 'R5474:Lrit1'
ID |
433987 |
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 |
043035-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5474 (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 36783943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 424
(S424T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120052]
|
AlphaFold |
Q8K099 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120052
AA Change: S424T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113964 Gene: ENSMUSG00000041044 AA Change: S424T
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: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
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 |
R5365:Lrit1
|
UTSW |
14 |
36,784,099 (GRCm39) |
missense |
probably benign |
0.00 |
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'- ACTTCTACCGGATACAGTGGG -3'
(R):5'- AGTGACACTAGTCTTCCCAGGC -3'
Sequencing Primer
(F):5'- TCTACCGGATACAGTGGGATTCC -3'
(R):5'- AGTCTTCCCAGGCTCCACAG -3'
|
Posted On |
2016-10-06 |