Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00960:Nlgn1'

278125

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) question?

Stock #

IGL00960

Quality Score

Status

Chromosome

Chromosomal Location

25480379-26386609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25966861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 197 (L197F)

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: L217F

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074565
Gene: ENSMUSG00000063887
AA Change: L217F

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: L197F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103944
Gene: ENSMUSG00000063887
AA Change: L197F

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: L197F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142086
Gene: ENSMUSG00000063887
AA Change: L197F

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
AA Change: L217F

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142200
Gene: ENSMUSG00000063887
AA Change: L217F

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,671 (GRCm39)	R444L	probably damaging	Het
Baiap2	T	A	11: 119,890,118 (GRCm39)	S460T	possibly damaging	Het
Cckar	A	G	5: 53,858,634 (GRCm39)	Y158H	probably damaging	Het
Cdk4	A	G	10: 126,900,166 (GRCm39)	Y21C	probably damaging	Het
Entpd1	C	T	19: 40,699,714 (GRCm39)	P42S	probably benign	Het
Epha8	A	T	4: 136,679,150 (GRCm39)		probably null	Het
Fastkd1	A	T	2: 69,524,997 (GRCm39)		probably benign	Het
Fmnl2	A	G	2: 53,013,494 (GRCm39)	D951G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnj5	T	A	9: 32,233,719 (GRCm39)	T199S	probably damaging	Het
Med13	T	C	11: 86,181,866 (GRCm39)		probably benign	Het
Mycbp2	G	T	14: 103,466,820 (GRCm39)	H1314Q	possibly damaging	Het
Ncapd2	A	T	6: 125,150,811 (GRCm39)	S795T	probably benign	Het
Nf1	T	C	11: 79,335,947 (GRCm39)	S1042P	probably damaging	Het
Nsun7	A	G	5: 66,446,846 (GRCm39)	Y428C	probably benign	Het
Or10d5j	A	G	9: 39,867,455 (GRCm39)	Y259H	probably damaging	Het
Parp14	T	C	16: 35,661,589 (GRCm39)	D1453G	probably benign	Het
Pcdhb8	A	T	18: 37,489,026 (GRCm39)	I235F	probably benign	Het
Pclo	T	C	5: 14,725,234 (GRCm39)	V1364A	unknown	Het
Polq	T	C	16: 36,880,874 (GRCm39)	S734P	probably damaging	Het
Sco1	T	C	11: 66,954,864 (GRCm39)	*290Q	probably null	Het
Slc22a3	A	T	17: 12,644,497 (GRCm39)	I496N	probably damaging	Het
Slc5a8	T	G	10: 88,757,627 (GRCm39)	I539S	probably benign	Het
Tecta	A	G	9: 42,270,376 (GRCm39)	F1311L	possibly damaging	Het
Tex261	A	T	6: 83,752,650 (GRCm39)	I19N	possibly damaging	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Vmn2r71	A	T	7: 85,273,582 (GRCm39)	S799C	probably damaging	Het
Zar1	G	A	5: 72,734,628 (GRCm39)	T197I	probably damaging	Het
Zfa-ps	A	G	10: 52,420,043 (GRCm39)		noncoding transcript	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
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
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

2015-04-16