Incidental Mutation 'R2914:Lrrtm1'
ID |
254802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrtm1
|
Ensembl Gene |
ENSMUSG00000060780 |
Gene Name |
leucine rich repeat transmembrane neuronal 1 |
Synonyms |
4632401D06Rik |
MMRRC Submission |
040501-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
77219672-77234774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77221962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 473
(Q473L)
|
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: Q473L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020400 Gene: ENSMUSG00000060780 AA Change: Q473L
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: Q473L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125207 Gene: ENSMUSG00000060780 AA Change: Q473L
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: Q473L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124373 Gene: ENSMUSG00000060780 AA Change: Q473L
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 |
|
Meta Mutation Damage Score |
0.0887 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (41/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGCCCATCACTGTGG -3'
(R):5'- GTCAACAAATCAGAGCGCAG -3'
Sequencing Primer
(F):5'- AGCCCATCACTGTGGCTCTTC -3'
(R):5'- CCCAGGCGTATTTGGTAGC -3'
|
Posted On |
2014-12-29 |