Incidental Mutation 'R0294:Nlgn1'
| ID |
26270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlgn1
|
| Ensembl Gene |
ENSMUSG00000063887 |
| Gene Name |
neuroligin 1 |
| Synonyms |
NL1, Nlg1, 6330415N05Rik |
| MMRRC Submission |
038511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0294 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26187625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 87
(A87S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075054]
[ENSMUST00000108308]
[ENSMUST00000191835]
[ENSMUST00000193603]
|
| AlphaFold |
Q99K10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075054
AA Change: A87S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000074565
Gene: ENSMUSG00000063887
AA Change: A87S
| 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: A87S
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103944
Gene: ENSMUSG00000063887
AA Change: A87S
| 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: A87S
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142086
Gene: ENSMUSG00000063887
AA Change: A87S
| 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 |
noncoding transcript
Transcript: ENSMUST00000192774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193603
AA Change: A87S
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887
AA Change: A87S
| 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: 98.5%
- 10x: 97.0%
- 20x: 95.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Aadat |
A |
G |
8: 60,987,642 (GRCm39) |
E319G |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,219,122 (GRCm39) |
|
probably null |
Het |
| Actl7b |
A |
T |
4: 56,740,848 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Adam29 |
C |
A |
8: 56,326,311 (GRCm39) |
V48L |
probably benign |
Het |
| Aknad1 |
A |
G |
3: 108,682,508 (GRCm39) |
Y528C |
probably damaging |
Het |
| Alas1 |
T |
A |
9: 106,118,455 (GRCm39) |
K222N |
probably damaging |
Het |
| Aplf |
A |
G |
6: 87,623,227 (GRCm39) |
V284A |
probably benign |
Het |
| Atp11a |
G |
A |
8: 12,877,524 (GRCm39) |
V317M |
probably benign |
Het |
| Bub3 |
A |
G |
7: 131,169,953 (GRCm39) |
E206G |
possibly damaging |
Het |
| Cblb |
T |
G |
16: 51,956,187 (GRCm39) |
F263L |
probably damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,236 (GRCm39) |
M157K |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,110,999 (GRCm39) |
F6L |
probably benign |
Het |
| Chst1 |
G |
T |
2: 92,443,987 (GRCm39) |
R153L |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,470,361 (GRCm39) |
D232G |
probably damaging |
Het |
| Cntnap5a |
T |
A |
1: 115,843,046 (GRCm39) |
N121K |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,862,372 (GRCm39) |
S1467R |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,258,646 (GRCm39) |
F72L |
possibly damaging |
Het |
| Dmrt2 |
C |
T |
19: 25,655,435 (GRCm39) |
P345S |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,165,714 (GRCm39) |
I1866T |
probably damaging |
Het |
| Egfem1 |
A |
G |
3: 29,744,270 (GRCm39) |
N503S |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,045,427 (GRCm39) |
D774G |
probably benign |
Het |
| Foxp2 |
C |
A |
6: 15,376,773 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,547 (GRCm39) |
V99A |
possibly damaging |
Het |
| Grm1 |
A |
T |
10: 10,956,143 (GRCm39) |
I47N |
probably damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,601,408 (GRCm39) |
S127T |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,689,362 (GRCm39) |
M410K |
probably benign |
Het |
| Ints7 |
A |
G |
1: 191,344,003 (GRCm39) |
S548G |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,778,122 (GRCm39) |
E80G |
probably damaging |
Het |
| Lgr6 |
A |
G |
1: 134,915,629 (GRCm39) |
V373A |
probably damaging |
Het |
| Lgr6 |
T |
A |
1: 135,032,799 (GRCm39) |
Q27L |
unknown |
Het |
| Map3k14 |
T |
C |
11: 103,117,963 (GRCm39) |
I610V |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,352,889 (GRCm39) |
H239Q |
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,589,251 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,477,998 (GRCm39) |
N903D |
probably benign |
Het |
| Nbeal2 |
T |
G |
9: 110,461,927 (GRCm39) |
D1476A |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,189,087 (GRCm39) |
G295S |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,472,803 (GRCm39) |
Y719F |
probably benign |
Het |
| Nnt |
T |
G |
13: 119,474,953 (GRCm39) |
I659L |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,137 (GRCm39) |
H268Q |
probably benign |
Het |
| Or52s6 |
G |
A |
7: 103,092,291 (GRCm39) |
T13I |
possibly damaging |
Het |
| Or5p78 |
A |
T |
7: 108,212,357 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,505,060 (GRCm39) |
V145A |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,613,089 (GRCm39) |
C2041Y |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,385,285 (GRCm39) |
D300Y |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,423,831 (GRCm39) |
E3124D |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,625,514 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,318,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,588,523 (GRCm39) |
T78M |
probably damaging |
Het |
| Prss40 |
T |
G |
1: 34,595,162 (GRCm39) |
D224A |
possibly damaging |
Het |
| Senp6 |
A |
G |
9: 80,021,007 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
G |
15: 89,416,301 (GRCm39) |
E666G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc22a18 |
G |
A |
7: 143,046,578 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,161 (GRCm39) |
C292R |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,817,744 (GRCm39) |
Q96R |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,255,966 (GRCm39) |
E594D |
possibly damaging |
Het |
| Srpra |
T |
A |
9: 35,126,811 (GRCm39) |
M61K |
probably damaging |
Het |
| Trmt10c |
A |
T |
16: 55,855,240 (GRCm39) |
Y132N |
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 |
|
|
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 |
|
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'- CCTGTGTTCCTGCAATGAACTCACC -3'
(R):5'- CTGGAGCTGCATTCTACCACCATTC -3'
Sequencing Primer
(F):5'- GTCTTGGACGTATGATGAAACCAC -3'
(R):5'- ACTTCCCAGATGCATGTGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation