Incidental Mutation 'IGL02614:Lrrtm4'
ID |
300589 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrtm4
|
Ensembl Gene |
ENSMUSG00000052581 |
Gene Name |
leucine rich repeat transmembrane neuronal 4 |
Synonyms |
7530419J18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
IGL02614
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
79995860-80787124 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 79998827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 79
(N79Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074662]
[ENSMUST00000126005]
[ENSMUST00000126399]
[ENSMUST00000128718]
[ENSMUST00000133918]
[ENSMUST00000136421]
[ENSMUST00000147663]
[ENSMUST00000145407]
|
AlphaFold |
Q80XG9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074662
AA Change: N79Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000074232 Gene: ENSMUSG00000052581 AA Change: N79Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
4e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126005
AA Change: N79Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000117445 Gene: ENSMUSG00000052581 AA Change: N79Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
4e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126399
AA Change: N79Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000121124 Gene: ENSMUSG00000052581 AA Change: N79Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
2e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133918
AA Change: N79Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000115016 Gene: ENSMUSG00000052581 AA Change: N79Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
LRR
|
108 |
131 |
3.52e-1 |
SMART |
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
LRR
|
156 |
179 |
1.16e-1 |
SMART |
LRR
|
180 |
203 |
4.34e-1 |
SMART |
LRR
|
204 |
224 |
2.4e1 |
SMART |
LRR
|
228 |
251 |
4.97e0 |
SMART |
LRR
|
252 |
275 |
1.07e0 |
SMART |
LRR
|
276 |
299 |
1.64e-1 |
SMART |
Blast:LRRCT
|
311 |
361 |
2e-25 |
BLAST |
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136421
AA Change: N80Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000121621 Gene: ENSMUSG00000052581 AA Change: N80Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
LRRNT
|
34 |
66 |
1.66e0 |
SMART |
LRR_TYP
|
85 |
108 |
6.67e-2 |
SMART |
LRR
|
109 |
132 |
3.52e-1 |
SMART |
LRR_TYP
|
133 |
156 |
2.53e-2 |
SMART |
LRR
|
157 |
180 |
1.16e-1 |
SMART |
LRR
|
181 |
204 |
4.34e-1 |
SMART |
LRR
|
205 |
225 |
2.4e1 |
SMART |
LRR
|
229 |
252 |
4.97e0 |
SMART |
LRR
|
253 |
276 |
1.07e0 |
SMART |
LRR
|
277 |
300 |
1.64e-1 |
SMART |
Blast:LRRCT
|
312 |
362 |
4e-25 |
BLAST |
low complexity region
|
376 |
393 |
N/A |
INTRINSIC |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
low complexity region
|
465 |
470 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147663
AA Change: N80Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000117263 Gene: ENSMUSG00000052581 AA Change: N80Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
LRRNT
|
34 |
66 |
1.66e0 |
SMART |
LRR_TYP
|
85 |
108 |
6.67e-2 |
SMART |
LRR
|
109 |
132 |
3.52e-1 |
SMART |
LRR_TYP
|
133 |
156 |
2.53e-2 |
SMART |
LRR
|
157 |
180 |
1.16e-1 |
SMART |
LRR
|
181 |
204 |
4.34e-1 |
SMART |
LRR
|
205 |
225 |
2.4e1 |
SMART |
LRR
|
229 |
252 |
4.97e0 |
SMART |
LRR
|
253 |
276 |
1.07e0 |
SMART |
LRR
|
277 |
300 |
1.64e-1 |
SMART |
Blast:LRRCT
|
312 |
362 |
2e-25 |
BLAST |
low complexity region
|
376 |
393 |
N/A |
INTRINSIC |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
low complexity region
|
465 |
470 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145407
AA Change: N79Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000114465 Gene: ENSMUSG00000052581 AA Change: N79Y
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
Blast:LRR_TYP
|
84 |
104 |
3e-7 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired excitatory synapse development and excitatory transmission in dentate gyrus granule cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
probably damaging |
Het |
|
Other mutations in Lrrtm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00498:Lrrtm4
|
APN |
6 |
79,999,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02043:Lrrtm4
|
APN |
6 |
79,998,845 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02603:Lrrtm4
|
APN |
6 |
79,999,967 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02735:Lrrtm4
|
APN |
6 |
80,786,031 (GRCm39) |
missense |
probably benign |
|
IGL02812:Lrrtm4
|
APN |
6 |
79,998,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02885:Lrrtm4
|
APN |
6 |
79,998,786 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02956:Lrrtm4
|
APN |
6 |
79,998,633 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03242:Lrrtm4
|
APN |
6 |
79,999,071 (GRCm39) |
missense |
probably benign |
0.22 |
R0504:Lrrtm4
|
UTSW |
6 |
79,999,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R0537:Lrrtm4
|
UTSW |
6 |
79,999,103 (GRCm39) |
missense |
probably benign |
0.02 |
R0656:Lrrtm4
|
UTSW |
6 |
79,998,953 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0698:Lrrtm4
|
UTSW |
6 |
79,999,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Lrrtm4
|
UTSW |
6 |
79,999,511 (GRCm39) |
missense |
probably benign |
0.06 |
R2126:Lrrtm4
|
UTSW |
6 |
79,998,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Lrrtm4
|
UTSW |
6 |
79,999,623 (GRCm39) |
missense |
probably benign |
0.00 |
R2363:Lrrtm4
|
UTSW |
6 |
79,998,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Lrrtm4
|
UTSW |
6 |
79,996,638 (GRCm39) |
intron |
probably benign |
|
R3817:Lrrtm4
|
UTSW |
6 |
79,999,044 (GRCm39) |
missense |
probably benign |
0.00 |
R4814:Lrrtm4
|
UTSW |
6 |
80,000,117 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5304:Lrrtm4
|
UTSW |
6 |
79,999,683 (GRCm39) |
missense |
probably benign |
0.01 |
R5318:Lrrtm4
|
UTSW |
6 |
79,999,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R5327:Lrrtm4
|
UTSW |
6 |
79,999,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R5931:Lrrtm4
|
UTSW |
6 |
79,998,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R6195:Lrrtm4
|
UTSW |
6 |
79,998,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Lrrtm4
|
UTSW |
6 |
79,999,428 (GRCm39) |
nonsense |
probably null |
|
R7793:Lrrtm4
|
UTSW |
6 |
79,999,841 (GRCm39) |
missense |
probably damaging |
0.97 |
R7875:Lrrtm4
|
UTSW |
6 |
79,999,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8058:Lrrtm4
|
UTSW |
6 |
79,999,528 (GRCm39) |
missense |
probably benign |
|
R8238:Lrrtm4
|
UTSW |
6 |
79,999,668 (GRCm39) |
missense |
probably damaging |
0.97 |
R8324:Lrrtm4
|
UTSW |
6 |
79,998,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R8751:Lrrtm4
|
UTSW |
6 |
79,999,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Lrrtm4
|
UTSW |
6 |
79,998,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Lrrtm4
|
UTSW |
6 |
79,999,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R9633:Lrrtm4
|
UTSW |
6 |
80,000,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R9709:Lrrtm4
|
UTSW |
6 |
80,786,154 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Lrrtm4
|
UTSW |
6 |
79,999,700 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |