Incidental Mutation 'IGL01924:Lrrtm1'
| ID |
180226 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrtm1
|
| Ensembl Gene |
ENSMUSG00000060780 |
| Gene Name |
leucine rich repeat transmembrane neuronal 1 |
| Synonyms |
4632401D06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
77219672-77234774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77221169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 209
(F209L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020400]
[ENSMUST00000075340]
[ENSMUST00000159616]
[ENSMUST00000159626]
[ENSMUST00000160894]
[ENSMUST00000161677]
[ENSMUST00000161811]
[ENSMUST00000161846]
|
| AlphaFold |
Q8K377 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020400
AA Change: F209L
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020400
Gene: ENSMUSG00000060780
AA Change: F209L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
38 |
70 |
1.06e0 |
SMART |
|
LRR
|
64 |
87 |
5.56e0 |
SMART |
|
LRR
|
88 |
111 |
1.03e1 |
SMART |
|
LRR_TYP
|
112 |
135 |
2.71e-2 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.98e-4 |
SMART |
|
LRR_TYP
|
160 |
183 |
9.44e-2 |
SMART |
|
LRR
|
184 |
207 |
6.96e0 |
SMART |
|
LRR
|
208 |
236 |
1.76e2 |
SMART |
|
LRR
|
255 |
278 |
4.71e1 |
SMART |
|
LRR
|
279 |
302 |
1.03e1 |
SMART |
|
Blast:LRRCT
|
314 |
364 |
4e-13 |
BLAST |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075340
|
| SMART Domains |
Protein: ENSMUSP00000074809
Gene: ENSMUSG00000063063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
2e-104 |
PFAM |
|
Pfam:Vinculin
|
331 |
866 |
7.7e-222 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159616
AA Change: F209L
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125207
Gene: ENSMUSG00000060780
AA Change: F209L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
38 |
70 |
1.06e0 |
SMART |
|
LRR
|
64 |
87 |
5.56e0 |
SMART |
|
LRR
|
88 |
111 |
1.03e1 |
SMART |
|
LRR_TYP
|
112 |
135 |
2.71e-2 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.98e-4 |
SMART |
|
LRR_TYP
|
160 |
183 |
9.44e-2 |
SMART |
|
LRR
|
184 |
207 |
6.96e0 |
SMART |
|
LRR
|
208 |
236 |
1.76e2 |
SMART |
|
LRR
|
255 |
278 |
4.71e1 |
SMART |
|
LRR
|
279 |
302 |
1.03e1 |
SMART |
|
Blast:LRRCT
|
314 |
364 |
4e-13 |
BLAST |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159626
|
| SMART Domains |
Protein: ENSMUSP00000124376
Gene: ENSMUSG00000063063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
18 |
337 |
3.4e-105 |
PFAM |
|
Pfam:Vinculin
|
330 |
914 |
6.6e-214 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160894
|
| SMART Domains |
Protein: ENSMUSP00000124764
Gene: ENSMUSG00000063063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
31 |
352 |
2.1e-104 |
PFAM |
|
Pfam:Vinculin
|
343 |
927 |
4.6e-213 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161677
AA Change: F209L
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124373
Gene: ENSMUSG00000060780
AA Change: F209L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
38 |
70 |
1.06e0 |
SMART |
|
LRR
|
64 |
87 |
5.56e0 |
SMART |
|
LRR
|
88 |
111 |
1.03e1 |
SMART |
|
LRR_TYP
|
112 |
135 |
2.71e-2 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.98e-4 |
SMART |
|
LRR_TYP
|
160 |
183 |
9.44e-2 |
SMART |
|
LRR
|
184 |
207 |
6.96e0 |
SMART |
|
LRR
|
208 |
236 |
1.76e2 |
SMART |
|
LRR
|
255 |
278 |
4.71e1 |
SMART |
|
LRR
|
279 |
302 |
1.03e1 |
SMART |
|
Blast:LRRCT
|
314 |
364 |
4e-13 |
BLAST |
|
transmembrane domain
|
428 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161811
|
| SMART Domains |
Protein: ENSMUSP00000124948
Gene: ENSMUSG00000060780
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
38 |
70 |
1.06e0 |
SMART |
|
LRR
|
64 |
87 |
5.56e0 |
SMART |
|
LRR
|
88 |
111 |
1.03e1 |
SMART |
|
LRR_TYP
|
112 |
135 |
2.71e-2 |
SMART |
|
LRR_TYP
|
136 |
159 |
1.98e-4 |
SMART |
|
LRR_TYP
|
160 |
183 |
9.44e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161846
|
| SMART Domains |
Protein: ENSMUSP00000123714
Gene: ENSMUSG00000063063
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
31 |
350 |
5.3e-105 |
PFAM |
|
Pfam:Vinculin
|
344 |
879 |
2.1e-222 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with grossly normal brain morphology. Mice homozygous for another knock-out allele exhibit impaired cognitive function and altered hippocampal synapse morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,362,047 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,326,902 (GRCm39) |
T167I |
possibly damaging |
Het |
| Apba3 |
G |
T |
10: 81,108,907 (GRCm39) |
A557S |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,084,093 (GRCm39) |
L1382P |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,777,485 (GRCm39) |
T178I |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,002,630 (GRCm39) |
S88G |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,765,615 (GRCm39) |
K887E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,441 (GRCm39) |
F134S |
probably benign |
Het |
| Ccdc162 |
A |
C |
10: 41,445,883 (GRCm39) |
F430V |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,283,887 (GRCm39) |
|
probably benign |
Het |
| Cfhr4 |
G |
A |
1: 139,666,944 (GRCm39) |
L444F |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,077,148 (GRCm39) |
D317G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,685,845 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,596 (GRCm39) |
T620K |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,921 (GRCm39) |
F20L |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,453,740 (GRCm39) |
D3475V |
unknown |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,439 (GRCm39) |
D259G |
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,747,142 (GRCm39) |
Y224C |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,571 (GRCm39) |
C144* |
probably null |
Het |
| Fbxo47 |
G |
T |
11: 97,746,986 (GRCm39) |
A360D |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,888 (GRCm39) |
G237R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,617,638 (GRCm39) |
T372A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,288,929 (GRCm39) |
Q2246L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,249,563 (GRCm39) |
M930V |
unknown |
Het |
| Kdm5a |
T |
C |
6: 120,371,216 (GRCm39) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 56,132,426 (GRCm39) |
T625A |
probably benign |
Het |
| Med13 |
C |
A |
11: 86,199,522 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,119,685 (GRCm39) |
E147G |
probably benign |
Het |
| Myrip |
T |
A |
9: 120,217,330 (GRCm39) |
V88D |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,460,482 (GRCm39) |
H1784R |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,255 (GRCm39) |
C247* |
probably null |
Het |
| Nup54 |
G |
A |
5: 92,572,294 (GRCm39) |
P252L |
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,003 (GRCm39) |
I50T |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,705,191 (GRCm39) |
N244K |
probably damaging |
Het |
| Pbrm1 |
G |
A |
14: 30,804,561 (GRCm39) |
R960H |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,875,411 (GRCm39) |
N190K |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,134 (GRCm39) |
L233H |
probably damaging |
Het |
| Sec24c |
T |
A |
14: 20,739,757 (GRCm39) |
F545I |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,686 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
G |
A |
14: 109,148,671 (GRCm39) |
A680V |
probably benign |
Het |
| Smpd1 |
C |
T |
7: 105,204,655 (GRCm39) |
S178L |
probably benign |
Het |
| Spindoc |
A |
G |
19: 7,360,042 (GRCm39) |
L42P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,419 (GRCm39) |
E2145G |
probably damaging |
Het |
| Tmem144 |
G |
T |
3: 79,746,501 (GRCm39) |
A18E |
probably damaging |
Het |
| Tmem213 |
A |
T |
6: 38,086,373 (GRCm39) |
S10C |
possibly damaging |
Het |
| Trav6-3 |
A |
T |
14: 53,667,800 (GRCm39) |
I102L |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,143 (GRCm39) |
N483T |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr27 |
T |
G |
17: 15,137,488 (GRCm39) |
K433N |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,607,080 (GRCm39) |
S189* |
probably null |
Het |
| Yeats2 |
A |
G |
16: 20,024,917 (GRCm39) |
N706D |
probably damaging |
Het |
| Zbp1 |
A |
G |
2: 173,054,047 (GRCm39) |
V158A |
probably benign |
Het |
| Zfp595 |
G |
T |
13: 67,465,847 (GRCm39) |
H139N |
possibly damaging |
Het |
|
| Other mutations in Lrrtm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00927:Lrrtm1
|
APN |
6 |
77,221,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01011:Lrrtm1
|
APN |
6 |
77,221,218 (GRCm39) |
splice site |
probably null |
|
|
IGL01125:Lrrtm1
|
APN |
6 |
77,221,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Lrrtm1
|
APN |
6 |
77,221,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Lrrtm1
|
APN |
6 |
77,221,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03076:Lrrtm1
|
APN |
6 |
77,221,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Lrrtm1
|
UTSW |
6 |
77,220,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Lrrtm1
|
UTSW |
6 |
77,221,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Lrrtm1
|
UTSW |
6 |
77,221,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Lrrtm1
|
UTSW |
6 |
77,221,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Lrrtm1
|
UTSW |
6 |
77,221,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Lrrtm1
|
UTSW |
6 |
77,221,680 (GRCm39) |
missense |
probably benign |
|
|
R1933:Lrrtm1
|
UTSW |
6 |
77,221,949 (GRCm39) |
splice site |
probably null |
|
|
R1934:Lrrtm1
|
UTSW |
6 |
77,221,949 (GRCm39) |
splice site |
probably null |
|
|
R2180:Lrrtm1
|
UTSW |
6 |
77,221,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Lrrtm1
|
UTSW |
6 |
77,220,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2914:Lrrtm1
|
UTSW |
6 |
77,221,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2937:Lrrtm1
|
UTSW |
6 |
77,220,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2938:Lrrtm1
|
UTSW |
6 |
77,220,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4604:Lrrtm1
|
UTSW |
6 |
77,221,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Lrrtm1
|
UTSW |
6 |
77,221,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4910:Lrrtm1
|
UTSW |
6 |
77,221,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Lrrtm1
|
UTSW |
6 |
77,221,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6604:Lrrtm1
|
UTSW |
6 |
77,221,221 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6845:Lrrtm1
|
UTSW |
6 |
77,220,864 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7048:Lrrtm1
|
UTSW |
6 |
77,221,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Lrrtm1
|
UTSW |
6 |
77,220,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Lrrtm1
|
UTSW |
6 |
77,221,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7826:Lrrtm1
|
UTSW |
6 |
77,221,095 (GRCm39) |
splice site |
probably null |
|
|
R8164:Lrrtm1
|
UTSW |
6 |
77,221,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Lrrtm1
|
UTSW |
6 |
77,221,662 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8856:Lrrtm1
|
UTSW |
6 |
77,221,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9221:Lrrtm1
|
UTSW |
6 |
77,221,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Lrrtm1
|
UTSW |
6 |
77,221,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9749:Lrrtm1
|
UTSW |
6 |
77,220,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Lrrtm1
|
UTSW |
6 |
77,221,334 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2014-05-07 |
Incidental Mutation