Incidental Mutation 'R8197:Lrrtm3'
| ID |
635500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrtm3
|
| Ensembl Gene |
ENSMUSG00000042846 |
| Gene Name |
leucine rich repeat transmembrane neuronal 3 |
| Synonyms |
9630044H04Rik |
| MMRRC Submission |
067620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8197 (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 A
at 63924295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 291
(T291S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075099]
[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 |
possibly damaging
Transcript: ENSMUST00000105439
AA Change: T291S
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: T291S
| 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: ENSMUST00000133588
|
| SMART Domains |
Protein: ENSMUSP00000114794
Gene: ENSMUSG00000042846
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
LRRNT
|
40 |
72 |
2.11e-3 |
SMART |
|
LRR_TYP
|
91 |
114 |
2.09e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1068 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,780,628 (GRCm39) |
D836E |
probably benign |
Het |
| Abca6 |
A |
C |
11: 110,102,641 (GRCm39) |
L861R |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,481,227 (GRCm39) |
A560E |
probably damaging |
Het |
| Adra2b |
A |
T |
2: 127,206,578 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Anxa3 |
A |
G |
5: 96,982,651 (GRCm39) |
T250A |
probably benign |
Het |
| B4galt5 |
T |
A |
2: 167,144,023 (GRCm39) |
N309I |
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,643,177 (GRCm39) |
R1056S |
probably damaging |
Het |
| Ccdc185 |
G |
T |
1: 182,576,324 (GRCm39) |
P122T |
possibly damaging |
Het |
| Cdk5rap3 |
A |
G |
11: 96,806,975 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,296,857 (GRCm39) |
Y31N |
probably benign |
Het |
| Crygc |
T |
C |
1: 65,112,365 (GRCm39) |
M70V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,517,666 (GRCm39) |
E2000G |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,203,171 (GRCm39) |
N266S |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,249,088 (GRCm39) |
D304E |
probably benign |
Het |
| Fabp9 |
T |
G |
3: 10,259,887 (GRCm39) |
K42T |
probably benign |
Het |
| Fhl4 |
T |
A |
10: 84,934,101 (GRCm39) |
I227F |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,926,921 (GRCm39) |
|
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,186 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,092,348 (GRCm39) |
D317G |
possibly damaging |
Het |
| Hrh4 |
A |
G |
18: 13,154,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,278 (GRCm39) |
N123S |
probably benign |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,841 (GRCm39) |
V2A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,389,971 (GRCm39) |
L500P |
unknown |
Het |
| Itgae |
G |
A |
11: 73,011,210 (GRCm39) |
R660Q |
probably benign |
Het |
| Kcnip2 |
T |
C |
19: 45,782,730 (GRCm39) |
I204V |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,493,447 (GRCm39) |
E471G |
probably damaging |
Het |
| Mast1 |
T |
A |
8: 85,639,450 (GRCm39) |
H1293L |
possibly damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,607 (GRCm39) |
E257G |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,743,607 (GRCm39) |
Y223H |
probably damaging |
Het |
| Nab1 |
G |
A |
1: 52,529,127 (GRCm39) |
R257* |
probably null |
Het |
| Ncapd3 |
C |
A |
9: 26,997,329 (GRCm39) |
L1217I |
probably damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,448 (GRCm39) |
D274V |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pde4d |
T |
A |
13: 110,084,870 (GRCm39) |
I489N |
probably damaging |
Het |
| Pdyn |
C |
T |
2: 129,530,277 (GRCm39) |
G131R |
probably benign |
Het |
| Qrich2 |
CACCTGCTTGCAACACACCAGGCTGAACTGGACCT |
CACCT |
11: 116,347,861 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
T |
C |
4: 133,592,673 (GRCm39) |
K276E |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,407,684 (GRCm39) |
N752I |
possibly damaging |
Het |
| Scyl2 |
T |
C |
10: 89,498,228 (GRCm39) |
I194V |
probably benign |
Het |
| Sec31b |
T |
G |
19: 44,512,955 (GRCm39) |
R511S |
probably benign |
Het |
| Serpinb6d |
T |
C |
13: 33,851,588 (GRCm39) |
F115S |
probably damaging |
Het |
| Skint6 |
T |
G |
4: 112,752,040 (GRCm39) |
|
probably null |
Het |
| Supt16 |
G |
A |
14: 52,411,542 (GRCm39) |
P614S |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,227,516 (GRCm39) |
I182M |
probably damaging |
Het |
| Vmn1r125 |
G |
A |
7: 21,006,851 (GRCm39) |
V250I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp959 |
A |
T |
17: 56,204,677 (GRCm39) |
D238V |
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 |
|
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 |
|
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'- TGCTCTTCCCACAGATGCTG -3'
(R):5'- CTTCAGAACTTGTACATGCAGTG -3'
Sequencing Primer
(F):5'- ACAGATGCTGTAGTTCTTCACCG -3'
(R):5'- CATGCAGTGGAATAAAATCAGTGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation