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: 0.100)
|
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 |