Incidental Mutation 'IGL01533:Nlgn1'
| ID |
89827 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlgn1
|
| Ensembl Gene |
ENSMUSG00000063887 |
| Gene Name |
neuroligin 1 |
| Synonyms |
NL1, Nlg1, 6330415N05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25490527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 400
(N400S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000075054
AA Change: N400S
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074565
Gene: ENSMUSG00000063887
AA Change: N400S
| 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
AA Change: N371S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103944
Gene: ENSMUSG00000063887
AA Change: N371S
| 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
AA Change: N371S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000142086
Gene: ENSMUSG00000063887
AA Change: N371S
| 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 |
possibly damaging
Transcript: ENSMUST00000193603
AA Change: N400S
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887
AA Change: N400S
| 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 |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
| Arhgap15 |
T |
C |
2: 44,133,165 (GRCm39) |
V357A |
probably damaging |
Het |
| Asb13 |
T |
C |
13: 3,692,164 (GRCm39) |
V48A |
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
| Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
| Cyp2a4 |
A |
T |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
| Galnt13 |
T |
A |
2: 54,770,144 (GRCm39) |
M312K |
probably damaging |
Het |
| Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
| Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
| Gxylt2 |
T |
C |
6: 100,760,098 (GRCm39) |
L211P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
| Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
| Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
| Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
| Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
| Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
| Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
| Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
| Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
| Vangl1 |
T |
C |
3: 102,070,667 (GRCm39) |
E423G |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation