Incidental Mutation 'R7597:Lrrtm4'
| ID |
587780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrtm4
|
| Ensembl Gene |
ENSMUSG00000052581 |
| Gene Name |
leucine rich repeat transmembrane neuronal 4 |
| Synonyms |
7530419J18Rik |
| MMRRC Submission |
045672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R7597 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
79995860-80787124 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 79999428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 280
(L280*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074662]
[ENSMUST00000126005]
[ENSMUST00000126399]
[ENSMUST00000128718]
[ENSMUST00000133918]
[ENSMUST00000136421]
[ENSMUST00000145407]
[ENSMUST00000147663]
|
| AlphaFold |
Q80XG9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074662
AA Change: L279*
|
| SMART Domains |
Protein: ENSMUSP00000074232
Gene: ENSMUSG00000052581
AA Change: L279*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
|
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
|
LRR
|
108 |
131 |
3.52e-1 |
SMART |
|
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
|
LRR
|
156 |
179 |
1.16e-1 |
SMART |
|
LRR
|
180 |
203 |
4.34e-1 |
SMART |
|
LRR
|
204 |
224 |
2.4e1 |
SMART |
|
LRR
|
228 |
251 |
4.97e0 |
SMART |
|
LRR
|
252 |
275 |
1.07e0 |
SMART |
|
LRR
|
276 |
299 |
1.64e-1 |
SMART |
|
Blast:LRRCT
|
311 |
361 |
4e-25 |
BLAST |
|
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126005
AA Change: L279*
|
| SMART Domains |
Protein: ENSMUSP00000117445
Gene: ENSMUSG00000052581
AA Change: L279*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
|
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
|
LRR
|
108 |
131 |
3.52e-1 |
SMART |
|
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
|
LRR
|
156 |
179 |
1.16e-1 |
SMART |
|
LRR
|
180 |
203 |
4.34e-1 |
SMART |
|
LRR
|
204 |
224 |
2.4e1 |
SMART |
|
LRR
|
228 |
251 |
4.97e0 |
SMART |
|
LRR
|
252 |
275 |
1.07e0 |
SMART |
|
LRR
|
276 |
299 |
1.64e-1 |
SMART |
|
Blast:LRRCT
|
311 |
361 |
4e-25 |
BLAST |
|
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126399
AA Change: L279*
|
| SMART Domains |
Protein: ENSMUSP00000121124
Gene: ENSMUSG00000052581
AA Change: L279*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
|
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
|
LRR
|
108 |
131 |
3.52e-1 |
SMART |
|
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
|
LRR
|
156 |
179 |
1.16e-1 |
SMART |
|
LRR
|
180 |
203 |
4.34e-1 |
SMART |
|
LRR
|
204 |
224 |
2.4e1 |
SMART |
|
LRR
|
228 |
251 |
4.97e0 |
SMART |
|
LRR
|
252 |
275 |
1.07e0 |
SMART |
|
LRR
|
276 |
299 |
1.64e-1 |
SMART |
|
Blast:LRRCT
|
311 |
361 |
2e-25 |
BLAST |
|
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128718
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133918
AA Change: L279*
|
| SMART Domains |
Protein: ENSMUSP00000115016
Gene: ENSMUSG00000052581
AA Change: L279*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
|
LRR_TYP
|
84 |
107 |
6.67e-2 |
SMART |
|
LRR
|
108 |
131 |
3.52e-1 |
SMART |
|
LRR_TYP
|
132 |
155 |
2.53e-2 |
SMART |
|
LRR
|
156 |
179 |
1.16e-1 |
SMART |
|
LRR
|
180 |
203 |
4.34e-1 |
SMART |
|
LRR
|
204 |
224 |
2.4e1 |
SMART |
|
LRR
|
228 |
251 |
4.97e0 |
SMART |
|
LRR
|
252 |
275 |
1.07e0 |
SMART |
|
LRR
|
276 |
299 |
1.64e-1 |
SMART |
|
Blast:LRRCT
|
311 |
361 |
2e-25 |
BLAST |
|
low complexity region
|
375 |
392 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
469 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136421
AA Change: L280*
|
| SMART Domains |
Protein: ENSMUSP00000121621
Gene: ENSMUSG00000052581
AA Change: L280*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
LRRNT
|
34 |
66 |
1.66e0 |
SMART |
|
LRR_TYP
|
85 |
108 |
6.67e-2 |
SMART |
|
LRR
|
109 |
132 |
3.52e-1 |
SMART |
|
LRR_TYP
|
133 |
156 |
2.53e-2 |
SMART |
|
LRR
|
157 |
180 |
1.16e-1 |
SMART |
|
LRR
|
181 |
204 |
4.34e-1 |
SMART |
|
LRR
|
205 |
225 |
2.4e1 |
SMART |
|
LRR
|
229 |
252 |
4.97e0 |
SMART |
|
LRR
|
253 |
276 |
1.07e0 |
SMART |
|
LRR
|
277 |
300 |
1.64e-1 |
SMART |
|
Blast:LRRCT
|
312 |
362 |
4e-25 |
BLAST |
|
low complexity region
|
376 |
393 |
N/A |
INTRINSIC |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
470 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145407
|
| SMART Domains |
Protein: ENSMUSP00000114465
Gene: ENSMUSG00000052581
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
65 |
1.66e0 |
SMART |
|
Blast:LRR_TYP
|
84 |
104 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147663
AA Change: L280*
|
| SMART Domains |
Protein: ENSMUSP00000117263
Gene: ENSMUSG00000052581
AA Change: L280*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
LRRNT
|
34 |
66 |
1.66e0 |
SMART |
|
LRR_TYP
|
85 |
108 |
6.67e-2 |
SMART |
|
LRR
|
109 |
132 |
3.52e-1 |
SMART |
|
LRR_TYP
|
133 |
156 |
2.53e-2 |
SMART |
|
LRR
|
157 |
180 |
1.16e-1 |
SMART |
|
LRR
|
181 |
204 |
4.34e-1 |
SMART |
|
LRR
|
205 |
225 |
2.4e1 |
SMART |
|
LRR
|
229 |
252 |
4.97e0 |
SMART |
|
LRR
|
253 |
276 |
1.07e0 |
SMART |
|
LRR
|
277 |
300 |
1.64e-1 |
SMART |
|
Blast:LRRCT
|
312 |
362 |
2e-25 |
BLAST |
|
low complexity region
|
376 |
393 |
N/A |
INTRINSIC |
|
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
470 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired excitatory synapse development and excitatory transmission in dentate gyrus granule cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,644,661 (GRCm39) |
L838P |
probably damaging |
Het |
| Adam34l |
T |
G |
8: 44,078,281 (GRCm39) |
N648H |
probably damaging |
Het |
| Adgrl4 |
T |
A |
3: 151,248,895 (GRCm39) |
F728I |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,184,304 (GRCm39) |
V7A |
probably benign |
Het |
| B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
| C4b |
A |
T |
17: 34,958,649 (GRCm39) |
S562T |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,422,121 (GRCm39) |
Y1130C |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,024,740 (GRCm39) |
K328* |
probably null |
Het |
| Col18a1 |
T |
C |
10: 76,949,137 (GRCm39) |
D125G |
unknown |
Het |
| Cxadr |
T |
C |
16: 78,125,996 (GRCm39) |
V122A |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,260,053 (GRCm39) |
P44S |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,378,745 (GRCm39) |
V351A |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,148,964 (GRCm39) |
T74A |
probably benign |
Het |
| Gfm2 |
C |
A |
13: 97,309,086 (GRCm39) |
A597E |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,351,408 (GRCm39) |
Y274C |
probably damaging |
Het |
| Has2 |
C |
A |
15: 56,531,817 (GRCm39) |
W299C |
probably damaging |
Het |
| Hsd17b6 |
A |
G |
10: 127,827,227 (GRCm39) |
S282P |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,110,676 (GRCm39) |
I972V |
probably benign |
Het |
| Itih5 |
T |
A |
2: 10,254,187 (GRCm39) |
Y813N |
probably damaging |
Het |
| Kctd16 |
A |
G |
18: 40,663,848 (GRCm39) |
T326A |
possibly damaging |
Het |
| Klhdc1 |
T |
C |
12: 69,316,642 (GRCm39) |
S342P |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,742,650 (GRCm39) |
I1682M |
unknown |
Het |
| Lamc1 |
T |
C |
1: 153,116,200 (GRCm39) |
K994E |
possibly damaging |
Het |
| Lig1 |
T |
G |
7: 13,030,270 (GRCm39) |
S416A |
probably benign |
Het |
| Lims1 |
A |
G |
10: 58,248,263 (GRCm39) |
E240G |
probably damaging |
Het |
| Lnpk |
T |
C |
2: 74,399,316 (GRCm39) |
M76V |
probably benign |
Het |
| Mfap3l |
A |
T |
8: 61,124,315 (GRCm39) |
I186F |
possibly damaging |
Het |
| Mta3 |
T |
C |
17: 84,083,011 (GRCm39) |
F234L |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,159,223 (GRCm39) |
G609D |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,219,035 (GRCm39) |
D237E |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nbn |
G |
A |
4: 15,963,911 (GRCm39) |
S104N |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,816,637 (GRCm39) |
L60P |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,925 (GRCm39) |
F212I |
probably benign |
Het |
| Or8b1b |
G |
A |
9: 38,375,802 (GRCm39) |
G155D |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,727,601 (GRCm39) |
T2153I |
unknown |
Het |
| Pclo |
A |
C |
5: 14,908,869 (GRCm39) |
K5059T |
unknown |
Het |
| Pdlim2 |
C |
A |
14: 70,403,645 (GRCm39) |
A256S |
possibly damaging |
Het |
| Pira2 |
T |
C |
7: 3,845,460 (GRCm39) |
D308G |
probably damaging |
Het |
| Proc |
G |
T |
18: 32,256,689 (GRCm39) |
A326E |
probably damaging |
Het |
| Rab40b |
T |
C |
11: 121,248,709 (GRCm39) |
D182G |
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,937 (GRCm39) |
S703P |
possibly damaging |
Het |
| Rdx |
C |
T |
9: 51,972,196 (GRCm39) |
P2L |
possibly damaging |
Het |
| Recql5 |
T |
C |
11: 115,819,207 (GRCm39) |
K120E |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,698,880 (GRCm39) |
R1126C |
probably damaging |
Het |
| Slc2a6 |
G |
T |
2: 26,917,195 (GRCm39) |
D70E |
possibly damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,378,668 (GRCm39) |
D671E |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 55,018,857 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,753,517 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,439,167 (GRCm39) |
I361K |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,255,918 (GRCm39) |
Y191C |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,803,812 (GRCm39) |
V1135A |
possibly damaging |
Het |
| Usp12 |
C |
A |
5: 146,691,179 (GRCm39) |
|
probably null |
Het |
| Vmn1r44 |
C |
A |
6: 89,870,818 (GRCm39) |
P188Q |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,356,099 (GRCm39) |
V3620D |
possibly damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,335,239 (GRCm39) |
S294T |
unknown |
Het |
| Zfp800 |
T |
C |
6: 28,260,764 (GRCm39) |
D5G |
probably damaging |
Het |
| Zfp87 |
C |
T |
13: 67,665,412 (GRCm39) |
R350Q |
probably benign |
Het |
|
| Other mutations in Lrrtm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Lrrtm4
|
APN |
6 |
79,999,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02043:Lrrtm4
|
APN |
6 |
79,998,845 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02603:Lrrtm4
|
APN |
6 |
79,999,967 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02614:Lrrtm4
|
APN |
6 |
79,998,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02735:Lrrtm4
|
APN |
6 |
80,786,031 (GRCm39) |
missense |
probably benign |
|
|
IGL02812:Lrrtm4
|
APN |
6 |
79,998,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Lrrtm4
|
APN |
6 |
79,998,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02956:Lrrtm4
|
APN |
6 |
79,998,633 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03242:Lrrtm4
|
APN |
6 |
79,999,071 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0504:Lrrtm4
|
UTSW |
6 |
79,999,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Lrrtm4
|
UTSW |
6 |
79,999,103 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0656:Lrrtm4
|
UTSW |
6 |
79,998,953 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0698:Lrrtm4
|
UTSW |
6 |
79,999,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Lrrtm4
|
UTSW |
6 |
79,999,511 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2126:Lrrtm4
|
UTSW |
6 |
79,998,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Lrrtm4
|
UTSW |
6 |
79,999,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:Lrrtm4
|
UTSW |
6 |
79,998,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Lrrtm4
|
UTSW |
6 |
79,996,638 (GRCm39) |
intron |
probably benign |
|
|
R3817:Lrrtm4
|
UTSW |
6 |
79,999,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4814:Lrrtm4
|
UTSW |
6 |
80,000,117 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5304:Lrrtm4
|
UTSW |
6 |
79,999,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5318:Lrrtm4
|
UTSW |
6 |
79,999,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Lrrtm4
|
UTSW |
6 |
79,999,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5931:Lrrtm4
|
UTSW |
6 |
79,998,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6195:Lrrtm4
|
UTSW |
6 |
79,998,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Lrrtm4
|
UTSW |
6 |
79,999,841 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7875:Lrrtm4
|
UTSW |
6 |
79,999,343 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8058:Lrrtm4
|
UTSW |
6 |
79,999,528 (GRCm39) |
missense |
probably benign |
|
|
R8238:Lrrtm4
|
UTSW |
6 |
79,999,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8324:Lrrtm4
|
UTSW |
6 |
79,998,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Lrrtm4
|
UTSW |
6 |
79,999,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Lrrtm4
|
UTSW |
6 |
79,998,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9142:Lrrtm4
|
UTSW |
6 |
79,999,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9633:Lrrtm4
|
UTSW |
6 |
80,000,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Lrrtm4
|
UTSW |
6 |
80,786,154 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Lrrtm4
|
UTSW |
6 |
79,999,700 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTGGAGCATAATCAGTTTTC -3'
(R):5'- ACCCTGTATGTGCTTAGGCC -3'
Sequencing Primer
(F):5'- AAGATCAACTTTGCTCATTTTCCTCG -3'
(R):5'- TAGGCCCTGCACATATCATGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation