Incidental Mutation 'IGL00927:Lrrtm1'
| ID |
27629 |
| 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 # |
IGL00927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
77219672-77234774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77221046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 168
(M168L)
|
| 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 benign
Transcript: ENSMUST00000020400
AA Change: M168L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020400
Gene: ENSMUSG00000060780
AA Change: M168L
| 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 benign
Transcript: ENSMUST00000159616
AA Change: M168L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125207
Gene: ENSMUSG00000060780
AA Change: M168L
| 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 benign
Transcript: ENSMUST00000161677
AA Change: M168L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124373
Gene: ENSMUSG00000060780
AA Change: M168L
| 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
AA Change: M168L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124948
Gene: ENSMUSG00000060780
AA Change: M168L
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
| Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
| Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
| Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
| Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
| Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
| Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
| Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
| Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
| Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
| Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
| Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
| Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Lrrtm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation