Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Lgsn'

544744

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

045109-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31215482-31243806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31229508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 76 (H76Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062560] [ENSMUST00000127775] [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 benign
Transcript: ENSMUST00000062560
AA Change: H76Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059871
Gene: ENSMUSG00000050217
AA Change: H76Q

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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,121 (GRCm39)	T57I	probably benign	Het
Adcy8	T	C	15: 64,576,565 (GRCm39)	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,684,483 (GRCm39)	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,843,439 (GRCm39)	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881 (GRCm39)	I309N	probably benign	Het
Ankrd36	A	G	11: 5,639,168 (GRCm39)	E1360G	probably benign	Het
Aox1	C	A	1: 58,370,051 (GRCm39)	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,407,282 (GRCm39)	D26E	possibly damaging	Het
Bbx	G	A	16: 50,022,851 (GRCm39)	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,271,378 (GRCm39)	Y215H	probably benign	Het
C3	C	T	17: 57,525,809 (GRCm39)	E858K	probably benign	Het
Ciita	T	C	16: 10,329,171 (GRCm39)	L482P	probably damaging	Het
Cldn9	T	C	17: 23,902,052 (GRCm39)	E191G	probably benign	Het
Cnst	T	A	1: 179,438,133 (GRCm39)	S566T	probably damaging	Het
Col5a2	A	G	1: 45,417,609 (GRCm39)	I1322T	possibly damaging	Het
Cp	G	A	3: 20,024,137 (GRCm39)	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,151,782 (GRCm39)	Q144*	probably null	Het
Dnah10	T	C	5: 124,864,490 (GRCm39)	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,009,697 (GRCm39)	E625G	possibly damaging	Het
Dnah7c	T	A	1: 46,571,910 (GRCm39)	D794E	probably benign	Het
Dusp10	G	A	1: 183,769,414 (GRCm39)	V127M	probably benign	Het
Dysf	G	C	6: 84,090,962 (GRCm39)	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,577,808 (GRCm39)	Y104H	probably damaging	Het
Gm6408	G	A	5: 146,420,647 (GRCm39)	E176K	probably damaging	Het
Gp1bb	T	A	16: 18,439,689 (GRCm39)	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,886,069 (GRCm39)	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,411,446 (GRCm39)	M30L	possibly damaging	Het
Hhat	G	A	1: 192,376,134 (GRCm39)	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,438,223 (GRCm39)	F336S	probably damaging	Het
Ippk	T	G	13: 49,590,181 (GRCm39)		probably null	Het
Jph1	T	A	1: 17,074,410 (GRCm39)	H11L	possibly damaging	Het
Kif12	T	A	4: 63,084,717 (GRCm39)	I534L	probably benign	Het
Lemd3	A	T	10: 120,788,137 (GRCm39)	F523I	probably benign	Het
Lipm	T	A	19: 34,089,497 (GRCm39)	W152R	probably damaging	Het
Mei1	A	T	15: 81,978,200 (GRCm39)	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,389,274 (GRCm39)	G379S	probably damaging	Het
Myh8	A	G	11: 67,179,142 (GRCm39)	T512A	probably benign	Het
Nf1	A	G	11: 79,337,849 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,343,605 (GRCm39)	T463A	probably benign	Het
Or12e10	A	G	2: 87,640,230 (GRCm39)	N22S	probably damaging	Het
Or2y13	G	A	11: 49,415,011 (GRCm39)	V154M	probably benign	Het
Or6c7	A	T	10: 129,323,277 (GRCm39)	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,047,309 (GRCm39)	I424R	possibly damaging	Het
Pnma8b	A	T	7: 16,680,181 (GRCm39)	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,341,171 (GRCm39)	K267I	probably damaging	Het
Psmb5	A	T	14: 54,854,166 (GRCm39)	M104K	probably damaging	Het
Ptges2	T	C	2: 32,292,318 (GRCm39)	V378A	probably benign	Het
Rcan2	C	T	17: 44,147,216 (GRCm39)	S18F	probably benign	Het
Saxo5	A	T	8: 3,526,309 (GRCm39)	D154V	probably damaging	Het
Sf3b2	C	T	19: 5,324,545 (GRCm39)	R859Q	probably benign	Het
Slc7a1	G	A	5: 148,289,256 (GRCm39)			Het
Spata31d1a	T	A	13: 59,851,448 (GRCm39)	T227S	probably benign	Het
Sptbn2	T	A	19: 4,794,173 (GRCm39)	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,247,275 (GRCm39)	I586V	probably benign	Het
St6galnac1	G	A	11: 116,657,833 (GRCm39)	R356*	probably null	Het
Taf5	T	A	19: 47,059,650 (GRCm39)	F265I	probably damaging	Het
Tkfc	T	A	19: 10,573,727 (GRCm39)	I229L	probably benign	Het
Tmem132c	T	A	5: 127,436,679 (GRCm39)	L56Q	probably damaging	Het
Togaram2	C	T	17: 72,016,638 (GRCm39)	A665V	probably damaging	Het
Ttn	G	A	2: 76,537,390 (GRCm39)	T34846I	probably benign	Het
Tyr	G	A	7: 87,142,548 (GRCm39)	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221 (GRCm39)	F549L	probably damaging	Het
Usp2	T	C	9: 44,001,339 (GRCm39)	S294P	probably damaging	Het
Vrk3	A	G	7: 44,407,187 (GRCm39)	N53D	probably damaging	Het
Zfp324	T	C	7: 12,705,142 (GRCm39)	S444P	probably damaging	Het
Zfp597	T	C	16: 3,683,791 (GRCm39)	I322V	probably benign	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
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
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'- AGCAAATGAAATGGCTAGCCC -3'
(R):5'- CAAAGATCAACTTGGAAACAGTGAC -3'

Sequencing Primer
(F):5'- TTACAGCATGCATCTAGGGC -3'
(R):5'- GGAAACAGTGACTTGAAGCACTTTCC -3'

Posted On

2019-05-13