Incidental Mutation 'R5100:Lrit1'
ID |
388234 |
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 |
042689-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5100 (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 36784171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 500
(C500S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120052]
|
AlphaFold |
Q8K099 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120052
AA Change: C500S
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113964 Gene: ENSMUSG00000041044 AA Change: C500S
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: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
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 |
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'- ACCACAGTGTGTCTTTGGTG -3'
(R):5'- CTTTCCAAATTAACATAGGCCCCAG -3'
Sequencing Primer
(F):5'- TGTGGAAGGCCCCTCAAG -3'
(R):5'- CACTTGTGGCAGCGTCTTCG -3'
|
Posted On |
2016-06-06 |