Incidental Mutation 'IGL03242:Lrrtm4'
| ID |
414871 |
| 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: 0.109)
|
| Stock # |
IGL03242
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
79995860-80787124 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79999071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 161
(I161T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117263
(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: I160T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000074232
Gene: ENSMUSG00000052581
AA Change: I160T
| 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: I160T
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117445
Gene: ENSMUSG00000052581
AA Change: I160T
| 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: I160T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121124
Gene: ENSMUSG00000052581
AA Change: I160T
| 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: I160T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115016
Gene: ENSMUSG00000052581
AA Change: I160T
| 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: I161T
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121621
Gene: ENSMUSG00000052581
AA Change: I161T
| 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: I161T
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117263
Gene: ENSMUSG00000052581
AA Change: I161T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114465
Gene: ENSMUSG00000052581
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,189 (GRCm39) |
W221R |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,722,454 (GRCm39) |
F1000L |
possibly damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,479 (GRCm39) |
F575L |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,159,126 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,520 (GRCm39) |
M679V |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,417,952 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,424,904 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
T |
9: 54,942,812 (GRCm39) |
I154K |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,071,989 (GRCm39) |
L130W |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,336,243 (GRCm39) |
Y281* |
probably null |
Het |
| Dlk2 |
A |
G |
17: 46,613,903 (GRCm39) |
Y386C |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,659,882 (GRCm39) |
F709I |
probably benign |
Het |
| Efcab3 |
A |
C |
11: 104,997,230 (GRCm39) |
E140A |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,854 (GRCm39) |
L467P |
probably damaging |
Het |
| Fkbp2 |
A |
G |
19: 6,955,980 (GRCm39) |
V75A |
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,056,237 (GRCm39) |
F304L |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,175,627 (GRCm39) |
V291E |
probably benign |
Het |
| Itprid2 |
C |
T |
2: 79,473,815 (GRCm39) |
R189* |
probably null |
Het |
| Kap |
A |
G |
6: 133,828,763 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,759,689 (GRCm39) |
T720N |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,831,466 (GRCm39) |
L1630* |
probably null |
Het |
| Med13l |
A |
G |
5: 118,885,510 (GRCm39) |
S1488G |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,578,124 (GRCm39) |
K147E |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,899 (GRCm39) |
E810G |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,544,125 (GRCm39) |
F28L |
possibly damaging |
Het |
| Or56a5 |
G |
A |
7: 104,793,473 (GRCm39) |
S15F |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,688 (GRCm39) |
V280A |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,266 (GRCm39) |
S804P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,144,609 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Serpina3j |
G |
A |
12: 104,285,960 (GRCm39) |
A372T |
possibly damaging |
Het |
| Slc28a3 |
G |
A |
13: 58,722,063 (GRCm39) |
Q274* |
probably null |
Het |
| Stk36 |
T |
C |
1: 74,662,511 (GRCm39) |
F543S |
possibly damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,930 (GRCm39) |
S690P |
probably damaging |
Het |
| Tg |
C |
A |
15: 66,555,647 (GRCm39) |
Q780K |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,557,653 (GRCm39) |
H578Q |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,596,634 (GRCm39) |
T463A |
possibly damaging |
Het |
| Treml1 |
G |
A |
17: 48,673,016 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,753,568 (GRCm39) |
V1312A |
probably benign |
Het |
| Ttc41 |
T |
A |
10: 86,612,683 (GRCm39) |
*1319K |
probably null |
Het |
| Tulp2 |
A |
G |
7: 45,171,282 (GRCm39) |
I354M |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,254 (GRCm39) |
L363P |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,956,218 (GRCm39) |
M496L |
probably benign |
Het |
| Virma |
T |
C |
4: 11,527,669 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Wdr76 |
T |
A |
2: 121,372,951 (GRCm39) |
C593S |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,252 (GRCm39) |
A97T |
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 |
|
IGL02614:Lrrtm4
|
APN |
6 |
79,998,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation