Incidental Mutation 'IGL03076:Lrrtm1'
| ID |
417701 |
| 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 # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
77219672-77234774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77221568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 342
(C342R)
|
| 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: C342R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020400
Gene: ENSMUSG00000060780
AA Change: C342R
| 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: C342R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125207
Gene: ENSMUSG00000060780
AA Change: C342R
| 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: C342R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124373
Gene: ENSMUSG00000060780
AA Change: C342R
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy2 |
T |
C |
12: 36,215,917 (GRCm39) |
V39A |
probably damaging |
Het |
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,535,299 (GRCm39) |
V87A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,643,032 (GRCm39) |
R492H |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,415 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,311,575 (GRCm39) |
A386D |
possibly damaging |
Het |
| Semp2l1 |
A |
G |
1: 32,584,626 (GRCm39) |
I428T |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably 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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation