Incidental Mutation 'R0010:Nlgn1'
ID |
32453 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlgn1
|
Ensembl Gene |
ENSMUSG00000063887 |
Gene Name |
neuroligin 1 |
Synonyms |
NL1, Nlg1, 6330415N05Rik |
MMRRC Submission |
038305-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0010 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 25490006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075054]
[ENSMUST00000108308]
[ENSMUST00000191835]
[ENSMUST00000193603]
|
AlphaFold |
Q99K10 |
PDB Structure |
Crystal structure of a synaptic adhesion complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075054
|
SMART Domains |
Protein: ENSMUSP00000074565 Gene: ENSMUSG00000063887
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
29 |
626 |
4.8e-199 |
PFAM |
Pfam:Abhydrolase_3
|
196 |
302 |
2.2e-8 |
PFAM |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
low complexity region
|
796 |
809 |
N/A |
INTRINSIC |
low complexity region
|
816 |
827 |
N/A |
INTRINSIC |
low complexity region
|
829 |
839 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108308
|
SMART Domains |
Protein: ENSMUSP00000103944 Gene: ENSMUSG00000063887
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
29 |
597 |
2.5e-190 |
PFAM |
Pfam:Abhydrolase_3
|
176 |
306 |
4.3e-8 |
PFAM |
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
low complexity region
|
691 |
702 |
N/A |
INTRINSIC |
low complexity region
|
767 |
780 |
N/A |
INTRINSIC |
low complexity region
|
787 |
798 |
N/A |
INTRINSIC |
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191835
|
SMART Domains |
Protein: ENSMUSP00000142086 Gene: ENSMUSG00000063887
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
29 |
597 |
2.5e-190 |
PFAM |
Pfam:Abhydrolase_3
|
176 |
306 |
4.3e-8 |
PFAM |
transmembrane domain
|
668 |
690 |
N/A |
INTRINSIC |
low complexity region
|
691 |
702 |
N/A |
INTRINSIC |
low complexity region
|
767 |
780 |
N/A |
INTRINSIC |
low complexity region
|
787 |
798 |
N/A |
INTRINSIC |
low complexity region
|
800 |
810 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193603
|
SMART Domains |
Protein: ENSMUSP00000142200 Gene: ENSMUSG00000063887
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
29 |
626 |
1.2e-186 |
PFAM |
Pfam:Abhydrolase_3
|
196 |
309 |
3.7e-8 |
PFAM |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
low complexity region
|
796 |
809 |
N/A |
INTRINSIC |
low complexity region
|
816 |
827 |
N/A |
INTRINSIC |
low complexity region
|
829 |
839 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (89/89) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but display impaired NMDA receptor-mediated synaptic transmission onto CA1 pyramidal cells. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,410,607 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Aoc1l3 |
A |
T |
6: 48,965,840 (GRCm39) |
H616L |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,661,866 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,599,818 (GRCm39) |
K1566E |
probably damaging |
Het |
Ccdc73 |
C |
T |
2: 104,811,332 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
Cd74 |
A |
T |
18: 60,936,968 (GRCm39) |
|
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,468,028 (GRCm39) |
D520N |
probably benign |
Het |
Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
Cox17 |
T |
A |
16: 38,167,532 (GRCm39) |
C24S |
possibly damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,886,178 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,699,814 (GRCm39) |
S222P |
probably damaging |
Het |
Dhx37 |
T |
A |
5: 125,508,680 (GRCm39) |
Q85L |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,637,068 (GRCm39) |
C192F |
probably damaging |
Het |
Eif3f |
A |
T |
7: 108,540,212 (GRCm39) |
N336Y |
possibly damaging |
Het |
Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
Fam114a2 |
G |
T |
11: 57,404,982 (GRCm39) |
T40N |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,162,643 (GRCm39) |
Y725H |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
Galnt2l |
G |
A |
8: 122,997,337 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
Gm5422 |
A |
G |
10: 31,125,750 (GRCm39) |
|
noncoding transcript |
Het |
Igkv6-29 |
A |
T |
6: 70,115,754 (GRCm39) |
|
probably benign |
Het |
Inpp5d |
G |
A |
1: 87,625,268 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
G |
17: 27,339,951 (GRCm39) |
V2610G |
probably damaging |
Het |
Kmt5c |
T |
A |
7: 4,749,207 (GRCm39) |
M88K |
probably benign |
Het |
Lrp12 |
C |
T |
15: 39,741,672 (GRCm39) |
A367T |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Milr1 |
T |
G |
11: 106,657,829 (GRCm39) |
*209G |
probably null |
Het |
Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
Mon2 |
A |
C |
10: 122,868,599 (GRCm39) |
S485A |
probably damaging |
Het |
Mpdu1 |
C |
T |
11: 69,549,667 (GRCm39) |
G47R |
probably damaging |
Het |
Ms4a4d |
A |
G |
19: 11,532,190 (GRCm39) |
N112S |
probably damaging |
Het |
Mybpc3 |
G |
A |
2: 90,965,178 (GRCm39) |
W1082* |
probably null |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Naa15 |
A |
T |
3: 51,343,634 (GRCm39) |
|
probably null |
Het |
Nav3 |
A |
G |
10: 109,659,087 (GRCm39) |
|
probably benign |
Het |
Nek7 |
T |
A |
1: 138,471,942 (GRCm39) |
Q66L |
possibly damaging |
Het |
Nktr |
G |
A |
9: 121,570,232 (GRCm39) |
|
probably benign |
Het |
Npr1 |
T |
C |
3: 90,362,139 (GRCm39) |
E1002G |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
Oc90 |
C |
T |
15: 65,748,397 (GRCm39) |
C371Y |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,239 (GRCm39) |
D311E |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,618 (GRCm39) |
L66F |
probably damaging |
Het |
Or8b42 |
A |
T |
9: 38,342,216 (GRCm39) |
I213F |
possibly damaging |
Het |
Pradc1 |
A |
T |
6: 85,424,213 (GRCm39) |
N44K |
probably damaging |
Het |
Pradc1 |
T |
C |
6: 85,424,602 (GRCm39) |
D116G |
probably damaging |
Het |
Ptprk |
G |
A |
10: 28,461,965 (GRCm39) |
C91Y |
probably damaging |
Het |
Pus7 |
T |
C |
5: 23,952,843 (GRCm39) |
I491V |
probably benign |
Het |
Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
Sec14l1 |
T |
C |
11: 117,034,596 (GRCm39) |
|
probably benign |
Het |
Sec24c |
A |
G |
14: 20,739,329 (GRCm39) |
|
probably benign |
Het |
Sema6b |
C |
T |
17: 56,431,105 (GRCm39) |
E853K |
probably benign |
Het |
Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,531 (GRCm39) |
S240P |
probably benign |
Het |
Slc5a8 |
T |
C |
10: 88,722,452 (GRCm39) |
V95A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,386 (GRCm39) |
S1188P |
probably benign |
Het |
Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
Vmn2r6 |
G |
A |
3: 64,466,966 (GRCm39) |
Q178* |
probably null |
Het |
Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,075,800 (GRCm39) |
Q384K |
probably damaging |
Het |
Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
Zfp605 |
T |
A |
5: 110,275,400 (GRCm39) |
C173S |
probably benign |
Het |
Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
Het |
Zhx2 |
T |
C |
15: 57,684,670 (GRCm39) |
V13A |
possibly damaging |
Het |
|
Other mutations in Nlgn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00510:Nlgn1
|
APN |
3 |
25,490,654 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00543:Nlgn1
|
APN |
3 |
25,487,945 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00960:Nlgn1
|
APN |
3 |
25,966,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01533:Nlgn1
|
APN |
3 |
25,490,527 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02146:Nlgn1
|
APN |
3 |
25,966,846 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02616:Nlgn1
|
APN |
3 |
25,488,409 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03342:Nlgn1
|
APN |
3 |
26,187,411 (GRCm39) |
missense |
probably damaging |
1.00 |
ligation
|
UTSW |
3 |
25,490,199 (GRCm39) |
nonsense |
probably null |
|
G1citation:Nlgn1
|
UTSW |
3 |
26,187,796 (GRCm39) |
missense |
probably benign |
0.00 |
P0018:Nlgn1
|
UTSW |
3 |
25,490,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Nlgn1
|
UTSW |
3 |
25,490,006 (GRCm39) |
splice site |
probably benign |
|
R0123:Nlgn1
|
UTSW |
3 |
25,490,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R0134:Nlgn1
|
UTSW |
3 |
25,490,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R0294:Nlgn1
|
UTSW |
3 |
26,187,625 (GRCm39) |
missense |
probably benign |
0.23 |
R0798:Nlgn1
|
UTSW |
3 |
25,488,410 (GRCm39) |
missense |
probably benign |
0.05 |
R1051:Nlgn1
|
UTSW |
3 |
25,966,869 (GRCm39) |
missense |
probably damaging |
0.98 |
R1116:Nlgn1
|
UTSW |
3 |
25,488,038 (GRCm39) |
missense |
probably benign |
0.00 |
R1289:Nlgn1
|
UTSW |
3 |
25,488,400 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1522:Nlgn1
|
UTSW |
3 |
25,490,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R1550:Nlgn1
|
UTSW |
3 |
25,966,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Nlgn1
|
UTSW |
3 |
25,490,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Nlgn1
|
UTSW |
3 |
26,187,671 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1856:Nlgn1
|
UTSW |
3 |
25,494,201 (GRCm39) |
nonsense |
probably null |
|
R1935:Nlgn1
|
UTSW |
3 |
26,385,939 (GRCm39) |
utr 5 prime |
probably benign |
|
R1936:Nlgn1
|
UTSW |
3 |
26,385,939 (GRCm39) |
utr 5 prime |
probably benign |
|
R1952:Nlgn1
|
UTSW |
3 |
25,490,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Nlgn1
|
UTSW |
3 |
25,490,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Nlgn1
|
UTSW |
3 |
25,488,034 (GRCm39) |
missense |
probably benign |
0.29 |
R2114:Nlgn1
|
UTSW |
3 |
26,187,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R2116:Nlgn1
|
UTSW |
3 |
26,187,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R2198:Nlgn1
|
UTSW |
3 |
25,487,925 (GRCm39) |
missense |
probably damaging |
0.99 |
R2994:Nlgn1
|
UTSW |
3 |
25,490,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R3056:Nlgn1
|
UTSW |
3 |
25,487,860 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4190:Nlgn1
|
UTSW |
3 |
25,488,062 (GRCm39) |
missense |
probably benign |
|
R4196:Nlgn1
|
UTSW |
3 |
25,488,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Nlgn1
|
UTSW |
3 |
25,490,186 (GRCm39) |
missense |
probably benign |
0.01 |
R4654:Nlgn1
|
UTSW |
3 |
26,187,850 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4757:Nlgn1
|
UTSW |
3 |
25,490,507 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4757:Nlgn1
|
UTSW |
3 |
25,490,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Nlgn1
|
UTSW |
3 |
25,490,194 (GRCm39) |
missense |
probably damaging |
0.99 |
R4884:Nlgn1
|
UTSW |
3 |
25,966,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4966:Nlgn1
|
UTSW |
3 |
25,974,401 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5119:Nlgn1
|
UTSW |
3 |
25,487,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R5842:Nlgn1
|
UTSW |
3 |
26,187,892 (GRCm39) |
splice site |
probably null |
|
R6218:Nlgn1
|
UTSW |
3 |
25,490,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6397:Nlgn1
|
UTSW |
3 |
25,487,827 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6500:Nlgn1
|
UTSW |
3 |
25,488,094 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6822:Nlgn1
|
UTSW |
3 |
26,187,796 (GRCm39) |
missense |
probably benign |
0.00 |
R6846:Nlgn1
|
UTSW |
3 |
25,490,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R7047:Nlgn1
|
UTSW |
3 |
25,490,199 (GRCm39) |
nonsense |
probably null |
|
R7147:Nlgn1
|
UTSW |
3 |
26,187,509 (GRCm39) |
missense |
probably benign |
0.02 |
R7754:Nlgn1
|
UTSW |
3 |
25,488,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R7886:Nlgn1
|
UTSW |
3 |
25,490,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R8184:Nlgn1
|
UTSW |
3 |
25,490,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R8261:Nlgn1
|
UTSW |
3 |
25,487,816 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8304:Nlgn1
|
UTSW |
3 |
26,187,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8364:Nlgn1
|
UTSW |
3 |
25,490,140 (GRCm39) |
missense |
probably benign |
0.00 |
R8503:Nlgn1
|
UTSW |
3 |
26,187,522 (GRCm39) |
missense |
probably damaging |
0.99 |
R9035:Nlgn1
|
UTSW |
3 |
25,488,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R9053:Nlgn1
|
UTSW |
3 |
25,488,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Nlgn1
|
UTSW |
3 |
25,966,804 (GRCm39) |
critical splice donor site |
probably null |
|
R9268:Nlgn1
|
UTSW |
3 |
25,490,548 (GRCm39) |
missense |
probably damaging |
0.96 |
R9368:Nlgn1
|
UTSW |
3 |
25,488,622 (GRCm39) |
missense |
probably damaging |
0.99 |
R9492:Nlgn1
|
UTSW |
3 |
25,488,480 (GRCm39) |
nonsense |
probably null |
|
R9596:Nlgn1
|
UTSW |
3 |
25,488,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R9647:Nlgn1
|
UTSW |
3 |
25,488,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9697:Nlgn1
|
UTSW |
3 |
25,494,035 (GRCm39) |
missense |
possibly damaging |
0.52 |
Z1176:Nlgn1
|
UTSW |
3 |
25,490,768 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCCCATGCAGCTCAGAATC -3'
(R):5'- CAGACCTTCACTCGAACTTTGGCTC -3'
Sequencing Primer
(F):5'- GCAGGTAACGTAACAACTGTTC -3'
(R):5'- GAACTTTGGCTCACCTACATAC -3'
|
Posted On |
2013-05-09 |