Incidental Mutation 'R9596:Nlgn1'
ID |
723256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlgn1
|
Ensembl Gene |
ENSMUSG00000063887 |
Gene Name |
neuroligin 1 |
Synonyms |
NL1, Nlg1, 6330415N05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9596 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
25480379-26386609 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25488587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 583
(I583F)
|
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 damaging
Transcript: ENSMUST00000075054
AA Change: I583F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074565 Gene: ENSMUSG00000063887 AA Change: I583F
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 damaging
Transcript: ENSMUST00000108308
AA Change: I554F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103944 Gene: ENSMUSG00000063887 AA Change: I554F
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 damaging
Transcript: ENSMUST00000191835
AA Change: I554F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000142086 Gene: ENSMUSG00000063887 AA Change: I554F
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 damaging
Transcript: ENSMUST00000193603
AA Change: I583F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142200 Gene: ENSMUSG00000063887 AA Change: I583F
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
G |
T |
1: 74,320,262 (GRCm39) |
Q355K |
probably benign |
Het |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
C |
17: 47,780,411 (GRCm39) |
S188P |
unknown |
Het |
Atp10a |
A |
G |
7: 58,477,553 (GRCm39) |
S1251G |
probably damaging |
Het |
Ccr10 |
A |
G |
11: 101,065,018 (GRCm39) |
F171L |
probably benign |
Het |
Clec10a |
A |
T |
11: 70,059,973 (GRCm39) |
D65V |
probably damaging |
Het |
Clybl |
A |
T |
14: 122,548,768 (GRCm39) |
I57L |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,819,551 (GRCm39) |
E218* |
probably null |
Het |
Diaph1 |
G |
A |
18: 38,024,111 (GRCm39) |
P576S |
unknown |
Het |
Dsg1c |
T |
A |
18: 20,416,361 (GRCm39) |
I754N |
probably benign |
Het |
Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
Fastkd3 |
G |
A |
13: 68,735,806 (GRCm39) |
V519M |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,193,392 (GRCm39) |
Y634* |
probably null |
Het |
Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,834,595 (GRCm39) |
S3191N |
|
Het |
Kif19a |
A |
T |
11: 114,676,752 (GRCm39) |
E527V |
probably benign |
Het |
Lmbr1 |
C |
A |
5: 29,440,105 (GRCm39) |
G420* |
probably null |
Het |
Map3k9 |
A |
G |
12: 81,777,404 (GRCm39) |
S526P |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,497,915 (GRCm39) |
L506Q |
possibly damaging |
Het |
Mroh9 |
T |
C |
1: 162,893,576 (GRCm39) |
I200V |
probably damaging |
Het |
Mrps14 |
T |
C |
1: 160,027,122 (GRCm39) |
V110A |
possibly damaging |
Het |
Mta1 |
A |
G |
12: 113,090,470 (GRCm39) |
Q209R |
probably damaging |
Het |
Mtss2 |
G |
A |
8: 111,458,689 (GRCm39) |
S195N |
|
Het |
Ntng1 |
T |
C |
3: 110,042,956 (GRCm39) |
|
probably benign |
Het |
Or10w1 |
A |
G |
19: 13,632,002 (GRCm39) |
S70G |
probably damaging |
Het |
Or1p1c |
C |
T |
11: 74,160,289 (GRCm39) |
H25Y |
probably benign |
Het |
Or2ag13 |
A |
T |
7: 106,313,412 (GRCm39) |
Y159N |
probably benign |
Het |
Or5ac25 |
A |
G |
16: 59,181,942 (GRCm39) |
I213T |
possibly damaging |
Het |
Or6c65 |
A |
G |
10: 129,603,988 (GRCm39) |
T208A |
probably damaging |
Het |
Pcdha12 |
A |
T |
18: 37,154,302 (GRCm39) |
L340F |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,491,842 (GRCm39) |
M173L |
probably benign |
Het |
Pds5a |
A |
G |
5: 65,772,830 (GRCm39) |
S1258P |
probably benign |
Het |
Plcd1 |
A |
T |
9: 118,917,183 (GRCm39) |
L22Q |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,570,113 (GRCm39) |
D232G |
probably damaging |
Het |
Rest |
C |
T |
5: 77,423,141 (GRCm39) |
T315M |
probably damaging |
Het |
Scrn2 |
G |
A |
11: 96,923,907 (GRCm39) |
V264M |
probably damaging |
Het |
Sipa1l3 |
C |
A |
7: 29,031,691 (GRCm39) |
V1513F |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,330,968 (GRCm39) |
V1466A |
possibly damaging |
Het |
Slc44a1 |
T |
A |
4: 53,544,553 (GRCm39) |
N421K |
probably benign |
Het |
Smc6 |
G |
T |
12: 11,345,045 (GRCm39) |
R662I |
probably damaging |
Het |
Spata31e5 |
C |
A |
1: 28,815,688 (GRCm39) |
M781I |
probably benign |
Het |
Srcap |
T |
A |
7: 127,131,036 (GRCm39) |
W751R |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,767,462 (GRCm39) |
F645L |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 177,990,212 (GRCm39) |
|
probably null |
Het |
Syne4 |
A |
G |
7: 30,014,504 (GRCm39) |
T41A |
probably benign |
Het |
Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
Trap1 |
A |
T |
16: 3,871,374 (GRCm39) |
I381N |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,904 (GRCm39) |
S835P |
possibly damaging |
Het |
Ube3b |
T |
A |
5: 114,527,171 (GRCm39) |
W130R |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,986,213 (GRCm39) |
T2207I |
|
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,201,563 (GRCm39) |
I314L |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,440,791 (GRCm39) |
I356L |
probably benign |
Het |
Vmn2r31 |
G |
T |
7: 7,397,292 (GRCm39) |
T322N |
probably benign |
Het |
Vmn2r8 |
A |
T |
5: 108,947,196 (GRCm39) |
F519I |
possibly damaging |
Het |
Wdr35 |
T |
C |
12: 9,036,092 (GRCm39) |
F288L |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,663,018 (GRCm39) |
V521D |
probably damaging |
Het |
Zfp639 |
T |
C |
3: 32,574,269 (GRCm39) |
F298S |
probably damaging |
Het |
Zfp786 |
G |
A |
6: 47,797,406 (GRCm39) |
R511* |
probably null |
Het |
Zfp936 |
T |
A |
7: 42,839,834 (GRCm39) |
C434S |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,552,146 (GRCm39) |
F266L |
probably benign |
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 |
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 |
|
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'- TCCGTGGATGGCACTTTAG -3'
(R):5'- TCTCTAAATGAACAGGGATCCAG -3'
Sequencing Primer
(F):5'- TGTCGAGGTATACTGAGAAATGTC -3'
(R):5'- CTCCCGAGTGCTGGGATTAAAATC -3'
|
Posted On |
2022-08-09 |