Incidental Mutation 'IGL02508:Lrrtm1'
ID |
296439 |
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 # |
IGL02508
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
77219672-77234774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77221574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 344
(S344C)
|
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 |
probably damaging
Transcript: ENSMUST00000020400
AA Change: S344C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020400 Gene: ENSMUSG00000060780 AA Change: S344C
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 |
probably damaging
Transcript: ENSMUST00000159616
AA Change: S344C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125207 Gene: ENSMUSG00000060780 AA Change: S344C
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 |
probably damaging
Transcript: ENSMUST00000161677
AA Change: S344C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124373 Gene: ENSMUSG00000060780 AA Change: S344C
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700061I17Rik |
T |
A |
3: 116,870,764 (GRCm39) |
|
noncoding transcript |
Het |
Adgrv1 |
A |
T |
13: 81,583,675 (GRCm39) |
|
probably benign |
Het |
AI429214 |
T |
G |
8: 37,461,240 (GRCm39) |
D129E |
probably benign |
Het |
Alx1 |
G |
A |
10: 102,858,054 (GRCm39) |
T215M |
probably damaging |
Het |
Arhgap39 |
A |
G |
15: 76,609,184 (GRCm39) |
*1079Q |
probably null |
Het |
Brca2 |
T |
C |
5: 150,466,773 (GRCm39) |
V2179A |
possibly damaging |
Het |
Cdcp3 |
A |
G |
7: 130,824,559 (GRCm39) |
E91G |
probably damaging |
Het |
Celsr1 |
G |
A |
15: 85,914,818 (GRCm39) |
Q1052* |
probably null |
Het |
Chd5 |
A |
G |
4: 152,447,481 (GRCm39) |
E510G |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,211,254 (GRCm39) |
D556G |
probably damaging |
Het |
Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
Cyp4a31 |
A |
T |
4: 115,428,261 (GRCm39) |
Y319F |
probably damaging |
Het |
Dcaf12 |
C |
T |
4: 41,296,310 (GRCm39) |
|
probably null |
Het |
Dcc |
C |
A |
18: 71,503,773 (GRCm39) |
A942S |
probably benign |
Het |
Dyrk1a |
A |
T |
16: 94,486,042 (GRCm39) |
D463V |
probably damaging |
Het |
Eln |
T |
A |
5: 134,733,422 (GRCm39) |
|
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,761,803 (GRCm39) |
|
probably null |
Het |
Fndc3b |
T |
C |
3: 27,512,900 (GRCm39) |
Y742C |
probably damaging |
Het |
Furin |
G |
A |
7: 80,042,269 (GRCm39) |
T442I |
probably benign |
Het |
Gli1 |
T |
C |
10: 127,172,961 (GRCm39) |
Q155R |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,538,179 (GRCm39) |
E218G |
probably benign |
Het |
Grb10 |
C |
T |
11: 11,896,767 (GRCm39) |
V236M |
probably damaging |
Het |
Grhl2 |
T |
C |
15: 37,310,009 (GRCm39) |
|
probably benign |
Het |
Hgfac |
A |
T |
5: 35,204,564 (GRCm39) |
M579L |
probably damaging |
Het |
Ifi202b |
A |
T |
1: 173,802,338 (GRCm39) |
D165E |
probably benign |
Het |
Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,333,774 (GRCm39) |
G1489D |
probably benign |
Het |
Lzts1 |
G |
A |
8: 69,593,500 (GRCm39) |
R36* |
probably null |
Het |
Mapkap1 |
T |
C |
2: 34,408,681 (GRCm39) |
|
probably benign |
Het |
Meis3 |
T |
A |
7: 15,912,722 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
T |
A |
6: 113,217,267 (GRCm39) |
C60S |
probably damaging |
Het |
Nfkb1 |
T |
A |
3: 135,296,579 (GRCm39) |
Y789F |
probably damaging |
Het |
Nup54 |
G |
A |
5: 92,565,398 (GRCm39) |
Q440* |
probably null |
Het |
Ogdhl |
T |
G |
14: 32,067,131 (GRCm39) |
M861R |
probably damaging |
Het |
Or13c7b |
T |
C |
4: 43,821,289 (GRCm39) |
E24G |
possibly damaging |
Het |
Or4d10 |
G |
T |
19: 12,051,251 (GRCm39) |
H248Q |
possibly damaging |
Het |
Or4k42 |
C |
T |
2: 111,320,180 (GRCm39) |
A108T |
probably damaging |
Het |
Or52w1 |
A |
T |
7: 105,017,743 (GRCm39) |
H61L |
possibly damaging |
Het |
Or6c69b |
A |
G |
10: 129,626,660 (GRCm39) |
V266A |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,145,948 (GRCm39) |
K412R |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,047,051 (GRCm39) |
|
probably benign |
Het |
Pigr |
A |
T |
1: 130,778,595 (GRCm39) |
I760L |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,691,590 (GRCm39) |
N378D |
probably benign |
Het |
Prr14l |
G |
A |
5: 32,988,286 (GRCm39) |
A403V |
probably benign |
Het |
Prrt3 |
T |
C |
6: 113,471,268 (GRCm39) |
D968G |
probably damaging |
Het |
Psmc5 |
T |
C |
11: 106,153,869 (GRCm39) |
I401T |
possibly damaging |
Het |
Ralyl |
T |
A |
3: 14,172,332 (GRCm39) |
|
probably benign |
Het |
Samd9l |
T |
C |
6: 3,374,798 (GRCm39) |
E821G |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,973,802 (GRCm39) |
I370F |
probably damaging |
Het |
Setd1a |
A |
G |
7: 127,396,870 (GRCm39) |
|
probably benign |
Het |
Slco2a1 |
T |
A |
9: 102,951,615 (GRCm39) |
F381L |
probably benign |
Het |
Strada |
A |
G |
11: 106,059,182 (GRCm39) |
Y199H |
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,682,531 (GRCm39) |
I40T |
probably damaging |
Het |
Tbx3 |
T |
C |
5: 119,816,877 (GRCm39) |
V358A |
possibly damaging |
Het |
Tenm3 |
A |
G |
8: 48,752,674 (GRCm39) |
L896S |
probably benign |
Het |
Tmem132a |
A |
G |
19: 10,835,882 (GRCm39) |
S883P |
probably damaging |
Het |
Trio |
A |
G |
15: 27,818,190 (GRCm39) |
I496T |
possibly damaging |
Het |
Unc79 |
C |
T |
12: 103,078,535 (GRCm39) |
R1548W |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,078,277 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,996,067 (GRCm39) |
M194V |
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 |
IGL01924:Lrrtm1
|
APN |
6 |
77,221,169 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
2015-04-16 |