Incidental Mutation 'IGL01011:Lrrtm1'
| ID |
53609 |
| 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 # |
IGL01011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
77219672-77234774 bp(+) (GRCm39) |
| Type of Mutation |
splice site (123 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 77221218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124948
(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: N225S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020400
Gene: ENSMUSG00000060780
AA Change: N225S
| 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: N225S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125207
Gene: ENSMUSG00000060780
AA Change: N225S
| 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: N225S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124373
Gene: ENSMUSG00000060780
AA Change: N225S
| 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 null
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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,529 (GRCm39) |
C282S |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,302,791 (GRCm39) |
I2143V |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,285,542 (GRCm39) |
I1148S |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,279,934 (GRCm39) |
R517* |
probably null |
Het |
| Arnt2 |
T |
A |
7: 83,935,037 (GRCm39) |
D289V |
probably benign |
Het |
| Atad2b |
A |
G |
12: 5,015,984 (GRCm39) |
N570S |
probably benign |
Het |
| Aven |
G |
A |
2: 112,460,130 (GRCm39) |
D208N |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,416,476 (GRCm39) |
D183G |
possibly damaging |
Het |
| Cd300lf |
A |
G |
11: 115,015,159 (GRCm39) |
S144P |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,468,989 (GRCm39) |
G543V |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,373 (GRCm39) |
N410S |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,156,934 (GRCm39) |
I590V |
probably benign |
Het |
| Cnbp |
C |
T |
6: 87,822,682 (GRCm39) |
R27H |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,660,022 (GRCm39) |
V889A |
unknown |
Het |
| Cxcl5 |
T |
C |
5: 90,908,382 (GRCm39) |
|
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,324,209 (GRCm39) |
V171F |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,289,323 (GRCm39) |
I26V |
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,594,970 (GRCm39) |
D691G |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,519,368 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,228,312 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
A |
6: 15,438,018 (GRCm39) |
*715R |
probably null |
Het |
| Ftl1 |
A |
T |
7: 45,108,070 (GRCm39) |
D65E |
probably benign |
Het |
| Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
| Gm20721 |
A |
G |
2: 174,187,531 (GRCm39) |
D1049G |
probably damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,277 (GRCm39) |
V47A |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,569 (GRCm39) |
S19G |
probably benign |
Het |
| H1f6 |
C |
T |
13: 23,880,032 (GRCm39) |
L62F |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,691,816 (GRCm39) |
E835D |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,286,646 (GRCm39) |
T3663I |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,515 (GRCm39) |
D114E |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,075,065 (GRCm39) |
V516E |
probably benign |
Het |
| Miga1 |
G |
T |
3: 151,982,327 (GRCm39) |
T519K |
probably benign |
Het |
| Mtfr1l |
G |
A |
4: 134,256,511 (GRCm39) |
P182S |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,818 (GRCm39) |
I193V |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,223,871 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
A |
T |
7: 140,284,350 (GRCm39) |
Y62F |
probably damaging |
Het |
| Or1e1c |
A |
T |
11: 73,265,833 (GRCm39) |
Q86L |
probably benign |
Het |
| Or5h22 |
T |
A |
16: 58,894,793 (GRCm39) |
T217S |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,820,137 (GRCm39) |
T277A |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,270,784 (GRCm39) |
C127Y |
probably damaging |
Het |
| Slamf6 |
T |
A |
1: 171,765,666 (GRCm39) |
H263Q |
probably benign |
Het |
| Snrnp48 |
A |
G |
13: 38,404,740 (GRCm39) |
D202G |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,148,279 (GRCm39) |
D269E |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,465,303 (GRCm39) |
D344V |
probably benign |
Het |
| Tmem62 |
G |
T |
2: 120,809,700 (GRCm39) |
K127N |
possibly damaging |
Het |
| Trav15-1-dv6-1 |
C |
T |
14: 53,797,492 (GRCm39) |
T46I |
possibly damaging |
Het |
| Trav16d-dv11 |
C |
T |
14: 53,285,041 (GRCm39) |
T39M |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,736,575 (GRCm39) |
D2794G |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,952,353 (GRCm39) |
G551D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,644,634 (GRCm39) |
V11294A |
possibly damaging |
Het |
| Ubap2 |
G |
A |
4: 41,195,328 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
G |
A |
3: 89,916,563 (GRCm39) |
Q915* |
probably null |
Het |
| Ubfd1 |
A |
G |
7: 121,677,695 (GRCm39) |
E340G |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,474,046 (GRCm39) |
|
probably null |
Het |
| Vmn1r6 |
T |
G |
6: 56,979,529 (GRCm39) |
L42V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,834,237 (GRCm39) |
T1635A |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,520,226 (GRCm39) |
H449Q |
probably benign |
Het |
| Zfp750 |
A |
T |
11: 121,403,922 (GRCm39) |
S318T |
probably benign |
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 |
|
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 |
2013-06-28 |
Incidental Mutation