Incidental Mutation 'R6295:Lrrtm3'
| ID |
508712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrtm3
|
| Ensembl Gene |
ENSMUSG00000042846 |
| Gene Name |
leucine rich repeat transmembrane neuronal 3 |
| Synonyms |
9630044H04Rik |
| MMRRC Submission |
044463-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
63764276-63926034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63765913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 558
(H558R)
|
| 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: H558R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: H558R
| 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
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
C |
12: 118,838,379 (GRCm39) |
V1061G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,781,413 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
A |
G |
7: 105,215,902 (GRCm39) |
F112L |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,702 (GRCm39) |
S615P |
probably benign |
Het |
| Atp8a2 |
G |
A |
14: 60,249,848 (GRCm39) |
R548* |
probably null |
Het |
| Bbof1 |
A |
T |
12: 84,457,942 (GRCm39) |
N69I |
possibly damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,404,370 (GRCm39) |
V186D |
probably benign |
Het |
| Bmp1 |
T |
G |
14: 70,728,823 (GRCm39) |
Y583S |
possibly damaging |
Het |
| Boc |
A |
C |
16: 44,312,711 (GRCm39) |
S586R |
probably benign |
Het |
| Btbd9 |
A |
T |
17: 30,518,710 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,317,919 (GRCm39) |
M1180V |
probably damaging |
Het |
| Ciao1 |
T |
C |
2: 127,088,376 (GRCm39) |
H149R |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,920 (GRCm39) |
|
probably benign |
Het |
| Doc2b |
C |
T |
11: 75,671,093 (GRCm39) |
R209Q |
probably damaging |
Het |
| Doc2b |
T |
C |
11: 75,686,451 (GRCm39) |
Y90C |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,901,675 (GRCm39) |
F481L |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,061,229 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,837 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
T |
C |
9: 109,601,154 (GRCm39) |
E17G |
possibly damaging |
Het |
| Gm29735 |
G |
A |
7: 141,710,367 (GRCm39) |
P162S |
unknown |
Het |
| Gypa |
T |
G |
8: 81,222,969 (GRCm39) |
S24R |
unknown |
Het |
| Hdhd5 |
T |
C |
6: 120,495,485 (GRCm39) |
N153D |
probably benign |
Het |
| Ibsp |
C |
A |
5: 104,449,987 (GRCm39) |
|
probably null |
Het |
| Klhdc3 |
C |
T |
17: 46,988,972 (GRCm39) |
V73I |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,388,459 (GRCm39) |
E2322G |
unknown |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,458,978 (GRCm39) |
V64A |
possibly damaging |
Het |
| Nthl1 |
C |
T |
17: 24,857,475 (GRCm39) |
R251C |
probably damaging |
Het |
| Numa1 |
G |
A |
7: 101,649,974 (GRCm39) |
R1235H |
probably benign |
Het |
| Opn1sw |
T |
A |
6: 29,379,413 (GRCm39) |
Y197F |
possibly damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,845 (GRCm39) |
V95A |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,896,187 (GRCm39) |
I268F |
probably benign |
Het |
| Per2 |
A |
T |
1: 91,377,594 (GRCm39) |
D76E |
unknown |
Het |
| Pfas |
T |
C |
11: 68,888,825 (GRCm39) |
N374S |
probably benign |
Het |
| Pomk |
C |
A |
8: 26,472,955 (GRCm39) |
V333F |
probably damaging |
Het |
| Ptgfr |
T |
C |
3: 151,540,926 (GRCm39) |
E194G |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,997 (GRCm39) |
P615S |
probably damaging |
Het |
| Pyroxd1 |
T |
C |
6: 142,300,479 (GRCm39) |
I203T |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,087,520 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl3l |
G |
A |
17: 24,952,966 (GRCm39) |
V309I |
probably benign |
Het |
| Rtkn2 |
C |
T |
10: 67,815,529 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,318,253 (GRCm39) |
A1613T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,874,103 (GRCm39) |
T33S |
probably damaging |
Het |
| Slc22a4 |
C |
A |
11: 53,898,634 (GRCm39) |
V153F |
possibly damaging |
Het |
| Stxbp1 |
C |
G |
2: 32,684,621 (GRCm39) |
E603Q |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,831 (GRCm39) |
S1291G |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,572 (GRCm39) |
L1144M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,533 (GRCm39) |
V249A |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,888,182 (GRCm39) |
C552S |
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 |
|
R5559:Lrrtm3
|
UTSW |
10 |
63,766,045 (GRCm39) |
missense |
probably benign |
0.35 |
|
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'- TGCACAACTTAGCTAGTTACAAAGTA -3'
(R):5'- TTGATAACTGACTTTTCTCATGTCATC -3'
Sequencing Primer
(F):5'- GAATTTTGTTTATTTGAACAGGGGAG -3'
(R):5'- AGTTACTGTGGGGTCCAT -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation