Incidental Mutation 'R6940:Lrit1'
| ID |
540515 |
| 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 |
045054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6940 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
36776787-36786903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 36782052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 242
(V242L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120052]
|
| AlphaFold |
Q8K099 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120052
AA Change: V242L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: V242L
| 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 |
|
| Meta Mutation Damage Score |
0.1859 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
A |
9: 54,516,381 (GRCm39) |
A667S |
probably benign |
Het |
| Ank2 |
G |
A |
3: 126,735,621 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,102,038 (GRCm39) |
L812P |
possibly damaging |
Het |
| Armc5 |
C |
T |
7: 127,839,470 (GRCm39) |
R263* |
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,302,491 (GRCm39) |
V740E |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,084,103 (GRCm39) |
V279A |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,804,297 (GRCm39) |
S929T |
probably benign |
Het |
| Chaf1b |
G |
A |
16: 93,702,853 (GRCm39) |
R556H |
probably benign |
Het |
| Csn1s1 |
A |
T |
5: 87,822,882 (GRCm39) |
Q69L |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 138,981,155 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,162,503 (GRCm39) |
D22G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,670,836 (GRCm39) |
H472R |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,158,428 (GRCm39) |
R337H |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,869,386 (GRCm39) |
V691A |
possibly damaging |
Het |
| Ern2 |
T |
C |
7: 121,785,369 (GRCm39) |
R3G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,096 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,575,858 (GRCm39) |
F20L |
unknown |
Het |
| Gtf2b |
C |
A |
3: 142,484,016 (GRCm39) |
D63E |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,217,243 (GRCm39) |
Y1377C |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,628,724 (GRCm39) |
T41A |
possibly damaging |
Het |
| Lce3d |
G |
A |
3: 92,865,541 (GRCm39) |
S52N |
unknown |
Het |
| Lrrfip1 |
T |
A |
1: 91,050,135 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
C |
7: 27,008,369 (GRCm39) |
V1313G |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,300,208 (GRCm39) |
S235* |
probably null |
Het |
| Mr1 |
T |
G |
1: 155,005,014 (GRCm39) |
*342S |
probably null |
Het |
| Muc21 |
C |
A |
17: 35,934,118 (GRCm39) |
|
probably benign |
Het |
| Nol4l |
T |
A |
2: 153,253,684 (GRCm39) |
S630C |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Or51a43 |
A |
G |
7: 103,717,620 (GRCm39) |
I206T |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,528,987 (GRCm39) |
V1807A |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,572,681 (GRCm39) |
V354E |
possibly damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,251,823 (GRCm39) |
E355D |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,084,875 (GRCm39) |
D112G |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,457,254 (GRCm39) |
I37N |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,348 (GRCm39) |
D285G |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,792 (GRCm39) |
S61G |
probably benign |
Het |
| Rnf214 |
T |
A |
9: 45,802,196 (GRCm39) |
T289S |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,381,973 (GRCm39) |
|
probably null |
Het |
| Sc5d |
A |
T |
9: 42,166,723 (GRCm39) |
M272K |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,000,626 (GRCm39) |
T542A |
possibly damaging |
Het |
| Sord |
T |
A |
2: 122,094,536 (GRCm39) |
I308N |
probably damaging |
Het |
| Syvn1 |
A |
T |
19: 6,101,214 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,148 (GRCm39) |
H209R |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,272,784 (GRCm39) |
V214A |
possibly damaging |
Het |
| Trpm5 |
C |
A |
7: 142,638,547 (GRCm39) |
E322* |
probably null |
Het |
| Ttf2 |
T |
C |
3: 100,876,831 (GRCm39) |
T17A |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,343 (GRCm39) |
E492G |
probably benign |
Het |
| Xndc1 |
T |
C |
7: 101,727,094 (GRCm39) |
V161A |
probably benign |
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 |
|
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 |
|
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'- TCTTCCCAGAGGAGAAATGGAG -3'
(R):5'- CACTTGGTTGCTCACACACC -3'
Sequencing Primer
(F):5'- CTGGTTCTGAAGATCTGAGGTTAACC -3'
(R):5'- ACACCTGTGCCATTGAGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation