Incidental Mutation 'R5559:Lrrtm3'
| ID |
501189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrtm3
|
| Ensembl Gene |
ENSMUSG00000042846 |
| Gene Name |
leucine rich repeat transmembrane neuronal 3 |
| Synonyms |
9630044H04Rik |
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
63764276-63926034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63766045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 514
(I514T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075099]
[ENSMUST00000079279]
[ENSMUST00000105439]
[ENSMUST00000105440]
[ENSMUST00000105441]
|
| AlphaFold |
Q8BZ81 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075099
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105439
AA Change: I514T
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: I514T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
2.11e-3 |
SMART |
|
LRR_TYP
|
84 |
107 |
2.09e-3 |
SMART |
|
LRR
|
108 |
131 |
6.77e0 |
SMART |
|
LRR_TYP
|
132 |
155 |
2.71e-2 |
SMART |
|
LRR_TYP
|
156 |
179 |
1.47e-3 |
SMART |
|
LRR
|
180 |
203 |
1.43e-1 |
SMART |
|
LRR
|
204 |
227 |
1.29e1 |
SMART |
|
LRR
|
228 |
251 |
2.14e1 |
SMART |
|
LRR
|
252 |
276 |
1.45e1 |
SMART |
|
LRR
|
277 |
300 |
2.02e-1 |
SMART |
|
Blast:LRRCT
|
312 |
361 |
6e-16 |
BLAST |
|
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105440
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105441
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135474
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably damaging |
Het |
|
| Other mutations in Lrrtm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Lrrtm3
|
APN |
10 |
63,924,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02026:Lrrtm3
|
APN |
10 |
63,924,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Lrrtm3
|
APN |
10 |
63,923,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03145:Lrrtm3
|
APN |
10 |
63,924,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1511:Lrrtm3
|
UTSW |
10 |
63,924,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Lrrtm3
|
UTSW |
10 |
63,923,928 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1921:Lrrtm3
|
UTSW |
10 |
63,924,157 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1933:Lrrtm3
|
UTSW |
10 |
63,924,292 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2849:Lrrtm3
|
UTSW |
10 |
63,924,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Lrrtm3
|
UTSW |
10 |
63,923,781 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4785:Lrrtm3
|
UTSW |
10 |
63,923,781 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5423:Lrrtm3
|
UTSW |
10 |
63,923,931 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6295:Lrrtm3
|
UTSW |
10 |
63,765,913 (GRCm39) |
missense |
probably benign |
|
|
R6301:Lrrtm3
|
UTSW |
10 |
63,925,001 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6356:Lrrtm3
|
UTSW |
10 |
63,765,943 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6799:Lrrtm3
|
UTSW |
10 |
63,923,630 (GRCm39) |
nonsense |
probably null |
|
|
R7419:Lrrtm3
|
UTSW |
10 |
63,923,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Lrrtm3
|
UTSW |
10 |
63,924,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Lrrtm3
|
UTSW |
10 |
63,923,818 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7723:Lrrtm3
|
UTSW |
10 |
63,924,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8197:Lrrtm3
|
UTSW |
10 |
63,924,295 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8310:Lrrtm3
|
UTSW |
10 |
63,925,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8879:Lrrtm3
|
UTSW |
10 |
63,925,017 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9105:Lrrtm3
|
UTSW |
10 |
63,924,336 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9193:Lrrtm3
|
UTSW |
10 |
63,765,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Lrrtm3
|
UTSW |
10 |
63,925,035 (GRCm39) |
frame shift |
probably null |
|
|
R9224:Lrrtm3
|
UTSW |
10 |
63,925,035 (GRCm39) |
frame shift |
probably null |
|
|
R9314:Lrrtm3
|
UTSW |
10 |
63,925,499 (GRCm39) |
intron |
probably benign |
|
|
R9365:Lrrtm3
|
UTSW |
10 |
63,923,943 (GRCm39) |
missense |
probably benign |
|
|
R9628:Lrrtm3
|
UTSW |
10 |
63,923,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9799:Lrrtm3
|
UTSW |
10 |
63,925,749 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Lrrtm3
|
UTSW |
10 |
63,925,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACGTGATTGTGCTCAAG -3'
(R):5'- AGTCTTGCCCTGGGTACTTG -3'
Sequencing Primer
(F):5'- AAGTCCAGCTCAGTCTCTAGGTG -3'
(R):5'- AGTTTGCAAGTCCAATGGGCC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation