Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Lgsn'

64487

Institutional Source

Beutler Lab

Gene Symbol

Lgsn

Ensembl Gene

ENSMUSG00000050217

Gene Name

lengsin, lens protein with glutamine synthetase domain

Synonyms

Gluld1, Lgs, lengsin

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R0026 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

31215482-31243806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31242524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 202 (V202D)

Ref Sequence

ENSEMBL: ENSMUSP00000059871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062560] [ENSMUST00000127775] [ENSMUST00000135245] [ENSMUST00000187659]

AlphaFold

Q8CIX8

PDB Structure

Lengsin is a survivor of an ancient family of class I glutamine synthetases in eukaryotes that has undergone evolutionary re- engineering for a tissue-specific role in the vertebrate eye lens. [ELECTRON MICROSCOPY]

Predicted Effect

probably damaging
Transcript: ENSMUST00000062560
AA Change: V202D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059871
Gene: ENSMUSG00000050217
AA Change: V202D

Domain	Start	End	E-Value	Type
SCOP:d1f52a1	128	233	2e-20	SMART
Gln-synt_C	235	481	1.67e-39	SMART
low complexity region	483	496	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127775

SMART Domains

Protein: ENSMUSP00000120381
Gene: ENSMUSG00000086727

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135245

SMART Domains

Protein: ENSMUSP00000120289
Gene: ENSMUSG00000086727

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161773

Predicted Effect

probably benign
Transcript: ENSMUST00000187659

SMART Domains

Protein: ENSMUSP00000139710
Gene: ENSMUSG00000086727

Domain	Start	End	E-Value	Type
low complexity region	55	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187892

Meta Mutation Damage Score

0.6490

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,566 (GRCm39)	I585N	possibly damaging	Het
A830005F24Rik	C	T	13: 48,667,848 (GRCm39)		probably benign	Het
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Adam19	G	T	11: 46,027,086 (GRCm39)	C573F	probably damaging	Het
Aff3	A	G	1: 38,242,974 (GRCm39)	S948P	probably benign	Het
Anxa3	T	A	5: 96,986,260 (GRCm39)	Y300N	probably benign	Het
BC016579	T	C	16: 45,460,730 (GRCm39)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Cdc16	T	A	8: 13,809,130 (GRCm39)		probably null	Het
Cep135	C	T	5: 76,754,581 (GRCm39)	R353*	probably null	Het
Cma1	A	T	14: 56,179,621 (GRCm39)	C188S	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,625,597 (GRCm39)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,777,363 (GRCm39)	Q203*	probably null	Het
Ephb3	A	G	16: 21,033,667 (GRCm39)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,494,254 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,690,276 (GRCm39)	V132I	probably benign	Het
H2-M9	T	C	17: 36,952,419 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,708,818 (GRCm39)	T519A	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Map1s	G	A	8: 71,367,282 (GRCm39)	G729D	probably damaging	Het
Mlycd	A	G	8: 120,137,174 (GRCm39)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,096,952 (GRCm39)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,131,771 (GRCm39)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,329,255 (GRCm39)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,297,334 (GRCm39)	D773G	probably damaging	Het
Nxnl1	A	G	8: 72,019,217 (GRCm39)	S3P	probably damaging	Het
Or12d17	T	A	17: 37,777,694 (GRCm39)	V199D	probably damaging	Het
Or8b54	G	A	9: 38,686,892 (GRCm39)	V114I	probably benign	Het
Otud7a	T	C	7: 63,385,549 (GRCm39)	F338L	probably benign	Het
Pdcl3	T	A	1: 39,030,361 (GRCm39)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,905,821 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Relt	C	A	7: 100,499,428 (GRCm39)	E164*	probably null	Het
Rnf185	T	C	11: 3,376,617 (GRCm39)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,985 (GRCm39)	E21G	probably benign	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Skint5	A	T	4: 113,403,665 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc5a2	T	A	7: 127,869,225 (GRCm39)	I335N	probably damaging	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Sstr1	T	A	12: 58,259,644 (GRCm39)	M89K	probably damaging	Het
Szt2	A	T	4: 118,241,969 (GRCm39)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 120,330,975 (GRCm39)		probably null	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,399,270 (GRCm39)	S54P	possibly damaging	Het
Ttf1	T	A	2: 28,961,361 (GRCm39)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,142,653 (GRCm39)		probably null	Het
Unc5b	A	T	10: 60,610,371 (GRCm39)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,560,743 (GRCm39)	Q824K	probably benign	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vmn2r61	T	G	7: 41,924,898 (GRCm39)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	Het

Other mutations in Lgsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Lgsn	APN	1	31,242,647 (GRCm39)	missense	possibly damaging	0.75
IGL01347:Lgsn	APN	1	31,243,041 (GRCm39)	missense	probably damaging	1.00
IGL01688:Lgsn	APN	1	31,243,486 (GRCm39)	missense	probably damaging	1.00
IGL02937:Lgsn	APN	1	31,243,318 (GRCm39)	missense	possibly damaging	0.63
IGL03056:Lgsn	APN	1	31,242,705 (GRCm39)	nonsense	probably null
R0026:Lgsn	UTSW	1	31,242,524 (GRCm39)	missense	probably damaging	0.99
R0042:Lgsn	UTSW	1	31,229,534 (GRCm39)	missense	probably benign
R0042:Lgsn	UTSW	1	31,229,534 (GRCm39)	missense	probably benign
R0611:Lgsn	UTSW	1	31,242,736 (GRCm39)	missense	probably benign	0.01
R0905:Lgsn	UTSW	1	31,242,824 (GRCm39)	missense	probably damaging	0.99
R2248:Lgsn	UTSW	1	31,242,607 (GRCm39)	missense	possibly damaging	0.71
R3883:Lgsn	UTSW	1	31,215,540 (GRCm39)	missense	probably benign	0.00
R4782:Lgsn	UTSW	1	31,242,823 (GRCm39)	missense	probably benign	0.44
R5560:Lgsn	UTSW	1	31,235,953 (GRCm39)	missense	probably damaging	1.00
R6011:Lgsn	UTSW	1	31,242,847 (GRCm39)	missense	probably damaging	1.00
R6998:Lgsn	UTSW	1	31,243,274 (GRCm39)	missense	probably benign	0.20
R7003:Lgsn	UTSW	1	31,243,024 (GRCm39)	missense	possibly damaging	0.46
R7007:Lgsn	UTSW	1	31,229,508 (GRCm39)	missense	probably benign	0.00
R7282:Lgsn	UTSW	1	31,242,452 (GRCm39)	missense	probably damaging	1.00
R7620:Lgsn	UTSW	1	31,242,461 (GRCm39)	missense	probably benign	0.00
R8082:Lgsn	UTSW	1	31,243,273 (GRCm39)	missense	probably benign	0.17
R8220:Lgsn	UTSW	1	31,235,881 (GRCm39)	missense	probably benign	0.00
R8467:Lgsn	UTSW	1	31,242,731 (GRCm39)	missense	probably benign	0.45
R9312:Lgsn	UTSW	1	31,243,280 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTACCCGAGGTCTTAGAAACAGCA -3'
(R):5'- TGGAGGCAGGAAAAGATATGGTCTTTGA -3'

Sequencing Primer
(F):5'- CTGACAGTTAATGCTAACTCACAG -3'
(R):5'- GAATTGATCACTTCGGGCAC -3'

Posted On

2013-08-06