Incidental Mutation 'IGL01475:Lrit2'
| ID |
88438 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrit2
|
| Ensembl Gene |
ENSMUSG00000043418 |
| Gene Name |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 |
| Synonyms |
A930010E21Rik, Lrrc22 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
36789886-36795700 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36791051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 243
(H243Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057176]
[ENSMUST00000120052]
|
| AlphaFold |
Q6PFC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057176
AA Change: H243Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056642
Gene: ENSMUSG00000043418
AA Change: H243Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
23 |
59 |
7.74e-2 |
SMART |
|
LRR
|
78 |
101 |
9.96e-1 |
SMART |
|
LRR_TYP
|
102 |
125 |
8.94e-3 |
SMART |
|
LRR
|
126 |
149 |
2.03e1 |
SMART |
|
LRR_TYP
|
150 |
173 |
7.67e-2 |
SMART |
|
LRRCT
|
200 |
251 |
7.12e-7 |
SMART |
|
IGc2
|
265 |
334 |
2.05e-9 |
SMART |
|
FN3
|
362 |
443 |
5.94e0 |
SMART |
|
transmembrane domain
|
463 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120052
|
| SMART Domains |
Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224104
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
A |
T |
14: 59,380,252 (GRCm39) |
N15K |
possibly damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,664 (GRCm39) |
I587K |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,584,843 (GRCm39) |
S942G |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,750 (GRCm39) |
F104S |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,761,245 (GRCm39) |
D980G |
probably benign |
Het |
| Apba1 |
A |
T |
19: 23,894,950 (GRCm39) |
D462V |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,634,433 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
T |
C |
18: 60,943,393 (GRCm39) |
|
probably benign |
Het |
| Cdc16 |
T |
C |
8: 13,831,542 (GRCm39) |
S592P |
probably benign |
Het |
| Cenpj |
A |
G |
14: 56,802,502 (GRCm39) |
M21T |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,103,521 (GRCm39) |
L425S |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,313,908 (GRCm39) |
T25I |
possibly damaging |
Het |
| Dguok |
C |
A |
6: 83,467,552 (GRCm39) |
M98I |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,004,781 (GRCm39) |
L943P |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,738,231 (GRCm39) |
S243L |
probably benign |
Het |
| Enkur |
C |
A |
2: 21,201,530 (GRCm39) |
A52S |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,083,787 (GRCm39) |
E744G |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,672,101 (GRCm39) |
S190P |
possibly damaging |
Het |
| Foxb1 |
G |
A |
9: 69,666,550 (GRCm39) |
|
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,058,432 (GRCm39) |
G439S |
probably damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,541 (GRCm39) |
V207D |
probably damaging |
Het |
| Hoatz |
A |
G |
9: 51,011,358 (GRCm39) |
I93T |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,796,948 (GRCm39) |
V317A |
probably benign |
Het |
| Lair1 |
C |
A |
7: 4,012,683 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
C |
T |
8: 71,232,174 (GRCm39) |
A1268T |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,316,671 (GRCm39) |
M4I |
possibly damaging |
Het |
| Mob1b |
T |
A |
5: 88,897,502 (GRCm39) |
F137I |
probably damaging |
Het |
| Mreg |
T |
C |
1: 72,203,325 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,651,272 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,580,998 (GRCm39) |
L1Q |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,425 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,331,870 (GRCm39) |
F447L |
possibly damaging |
Het |
| Pno1 |
A |
T |
11: 17,160,992 (GRCm39) |
I114N |
probably damaging |
Het |
| Ppp1r7 |
T |
G |
1: 93,288,540 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
A |
19: 46,059,968 (GRCm39) |
Y1503N |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,484,930 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc15a4 |
T |
C |
5: 127,679,024 (GRCm39) |
T439A |
probably benign |
Het |
| Slc29a3 |
A |
G |
10: 60,559,596 (GRCm39) |
V186A |
possibly damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,165,454 (GRCm39) |
T88I |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,160,701 (GRCm39) |
V1250A |
probably benign |
Het |
| Tcte2 |
A |
T |
17: 13,937,824 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
A |
T |
3: 54,173,828 (GRCm39) |
L407F |
possibly damaging |
Het |
| Vmn1r6 |
T |
C |
6: 56,979,896 (GRCm39) |
F164S |
probably damaging |
Het |
| Zfp579 |
C |
A |
7: 4,997,743 (GRCm39) |
R56L |
probably benign |
Het |
|
| Other mutations in Lrit2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Lrit2
|
APN |
14 |
36,793,920 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02080:Lrit2
|
APN |
14 |
36,791,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02141:Lrit2
|
APN |
14 |
36,790,031 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02479:Lrit2
|
APN |
14 |
36,794,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02715:Lrit2
|
APN |
14 |
36,794,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Lrit2
|
UTSW |
14 |
36,790,002 (GRCm39) |
splice site |
probably null |
|
|
R1344:Lrit2
|
UTSW |
14 |
36,790,513 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1529:Lrit2
|
UTSW |
14 |
36,790,784 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1641:Lrit2
|
UTSW |
14 |
36,791,105 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2105:Lrit2
|
UTSW |
14 |
36,793,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4365:Lrit2
|
UTSW |
14 |
36,794,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Lrit2
|
UTSW |
14 |
36,794,432 (GRCm39) |
missense |
probably benign |
|
|
R5226:Lrit2
|
UTSW |
14 |
36,794,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5377:Lrit2
|
UTSW |
14 |
36,791,140 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5387:Lrit2
|
UTSW |
14 |
36,794,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Lrit2
|
UTSW |
14 |
36,790,962 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5881:Lrit2
|
UTSW |
14 |
36,794,192 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6499:Lrit2
|
UTSW |
14 |
36,790,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6863:Lrit2
|
UTSW |
14 |
36,793,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7307:Lrit2
|
UTSW |
14 |
36,794,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7316:Lrit2
|
UTSW |
14 |
36,790,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Lrit2
|
UTSW |
14 |
36,790,867 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7525:Lrit2
|
UTSW |
14 |
36,794,450 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7640:Lrit2
|
UTSW |
14 |
36,794,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8228:Lrit2
|
UTSW |
14 |
36,791,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Lrit2
|
UTSW |
14 |
36,791,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8815:Lrit2
|
UTSW |
14 |
36,794,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9099:Lrit2
|
UTSW |
14 |
36,790,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9152:Lrit2
|
UTSW |
14 |
36,794,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Lrit2
|
UTSW |
14 |
36,794,550 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9309:Lrit2
|
UTSW |
14 |
36,793,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9517:Lrit2
|
UTSW |
14 |
36,794,272 (GRCm39) |
nonsense |
probably null |
|
|
R9670:Lrit2
|
UTSW |
14 |
36,790,115 (GRCm39) |
nonsense |
probably null |
|
|
R9764:Lrit2
|
UTSW |
14 |
36,790,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation