Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Lgals9'

48649

Institutional Source

Beutler Lab

Gene Symbol

Lgals9

Ensembl Gene

ENSMUSG00000001123

Gene Name

lectin, galactose binding, soluble 9

Synonyms

LGALS35, gal-9, Lgals5, galectin-9

MMRRC Submission

038715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78853805-78875750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78856638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 265 (H265Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073001] [ENSMUST00000108268] [ENSMUST00000108269]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073001
AA Change: H264Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072764
Gene: ENSMUSG00000001123
AA Change: H264Q

Domain	Start	End	E-Value	Type
GLECT	15	147	6.58e-55	SMART
Gal-bind_lectin	21	146	5.24e-55	SMART
GLECT	222	352	5.38e-60	SMART
Gal-bind_lectin	228	352	1.33e-65	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108268
AA Change: H234Q

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103903
Gene: ENSMUSG00000001123
AA Change: H234Q

Domain	Start	End	E-Value	Type
GLECT	15	147	6.58e-55	SMART
Gal-bind_lectin	21	146	5.24e-55	SMART
GLECT	192	322	5.38e-60	SMART
Gal-bind_lectin	198	322	1.33e-65	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108269
AA Change: H265Q

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103904
Gene: ENSMUSG00000001123
AA Change: H265Q

Domain	Start	End	E-Value	Type
GLECT	15	147	6.58e-55	SMART
Gal-bind_lectin	21	146	5.24e-55	SMART
GLECT	223	353	5.38e-60	SMART
Gal-bind_lectin	229	353	1.33e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140073

Meta Mutation Damage Score

0.8885

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more centromeric gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased susceptibility to collagen-induced arthritis, increased T-helper 1 cells and decreased regulatory T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	A	G	8: 84,456,805 (GRCm39)	I192T	probably benign	Het
Adgrl3	T	C	5: 81,874,648 (GRCm39)	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,676,561 (GRCm39)		probably benign	Het
Alms1	T	C	6: 85,598,597 (GRCm39)	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,472,189 (GRCm39)		probably benign	Het
C2cd3	A	G	7: 100,044,429 (GRCm39)	N337S	probably benign	Het
Cdc40	T	C	10: 40,733,608 (GRCm39)	Y114C	probably benign	Het
Cdhr1	A	T	14: 36,815,957 (GRCm39)		probably null	Het
Cfc1	G	A	1: 34,576,234 (GRCm39)	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,723,533 (GRCm39)		probably benign	Het
Cyth4	C	A	15: 78,499,985 (GRCm39)	H255Q	possibly damaging	Het
Degs1l	A	C	1: 180,887,312 (GRCm39)	D299A	probably damaging	Het
Dip2a	T	C	10: 76,157,365 (GRCm39)	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083 (GRCm39)	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,438,565 (GRCm39)		probably benign	Het
Edn1	T	A	13: 42,458,430 (GRCm39)	V81E	probably damaging	Het
F5	T	C	1: 164,039,332 (GRCm39)	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,178,400 (GRCm39)	M309L	probably benign	Het
Gm14221	G	A	2: 160,416,597 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,267,328 (GRCm39)		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,735,567 (GRCm39)		probably null	Het
Gpr176	A	G	2: 118,114,493 (GRCm39)	C106R	probably damaging	Het
Hdac7	A	T	15: 97,704,560 (GRCm39)		probably null	Het
Hlx	T	C	1: 184,463,837 (GRCm39)	S168G	probably damaging	Het
Hnf1a	G	T	5: 115,088,747 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,949,472 (GRCm39)	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,512,086 (GRCm39)	T63S	probably damaging	Het
Insrr	C	T	3: 87,708,179 (GRCm39)	S207F	probably damaging	Het
Jak3	C	A	8: 72,134,918 (GRCm39)		probably benign	Het
Jmjd7	G	A	2: 119,860,822 (GRCm39)	A91T	probably damaging	Het
Lrriq1	T	G	10: 102,997,638 (GRCm39)	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837 (GRCm39)	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,439,123 (GRCm39)	T194A	probably damaging	Het
Nek5	T	A	8: 22,578,813 (GRCm39)		probably benign	Het
Pcgf2	A	C	11: 97,582,873 (GRCm39)	I135M	probably benign	Het
Phactr1	G	T	13: 43,213,067 (GRCm39)	A222S	probably benign	Het
Pla2r1	T	C	2: 60,309,859 (GRCm39)	S575G	probably benign	Het
Plcg2	T	C	8: 118,341,027 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Polg	A	G	7: 79,109,899 (GRCm39)		probably benign	Het
Poteg	T	G	8: 27,939,986 (GRCm39)	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,631,203 (GRCm39)	C50S	probably benign	Het
Prx	T	A	7: 27,217,620 (GRCm39)	V707E	probably damaging	Het
Rrp12	C	T	19: 41,863,144 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,363,340 (GRCm39)	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,754,416 (GRCm39)		probably null	Het
Slc26a5	A	C	5: 22,051,343 (GRCm39)	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,532,412 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,926,534 (GRCm39)	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010 (GRCm39)	I260V	probably benign	Het
Smg8	A	T	11: 86,977,288 (GRCm39)	S98T	probably benign	Het
Spart	T	A	3: 55,035,786 (GRCm39)	S548R	probably damaging	Het
Sult6b1	C	T	17: 79,212,958 (GRCm39)	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806 (GRCm39)	Y77H	probably damaging	Het
Tet2	T	A	3: 133,172,565 (GRCm39)	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Uap1l1	T	C	2: 25,253,289 (GRCm39)	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Ugt1a9	T	C	1: 87,999,114 (GRCm39)	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416 (GRCm39)		probably null	Het
Xrcc6	T	C	15: 81,906,793 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zfp804b	T	A	5: 6,822,014 (GRCm39)	T350S	probably benign	Het
Zfp959	G	T	17: 56,203,201 (GRCm39)	R61M	probably null	Het

Other mutations in Lgals9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Lgals9	APN	11	78,863,977 (GRCm39)	missense	probably damaging	1.00
IGL01415:Lgals9	APN	11	78,863,977 (GRCm39)	missense	probably damaging	1.00
IGL02194:Lgals9	APN	11	78,857,746 (GRCm39)	critical splice acceptor site	probably null
IGL02390:Lgals9	APN	11	78,854,361 (GRCm39)	missense	probably damaging	1.00
IGL02987:Lgals9	APN	11	78,858,303 (GRCm39)	missense	possibly damaging	0.93
IGL03288:Lgals9	APN	11	78,875,626 (GRCm39)	missense	probably benign	0.01
IGL03388:Lgals9	APN	11	78,854,247 (GRCm39)	missense	probably damaging	0.99
R0057:Lgals9	UTSW	11	78,862,262 (GRCm39)	splice site	probably benign
R0143:Lgals9	UTSW	11	78,854,361 (GRCm39)	missense	probably damaging	1.00
R0325:Lgals9	UTSW	11	78,854,274 (GRCm39)	missense	probably damaging	0.99
R0542:Lgals9	UTSW	11	78,860,546 (GRCm39)	missense	possibly damaging	0.68
R0673:Lgals9	UTSW	11	78,856,679 (GRCm39)	missense	probably damaging	1.00
R1312:Lgals9	UTSW	11	78,867,443 (GRCm39)	nonsense	probably null
R2000:Lgals9	UTSW	11	78,863,996 (GRCm39)	missense	probably benign	0.01
R4083:Lgals9	UTSW	11	78,860,589 (GRCm39)	missense	possibly damaging	0.63
R4084:Lgals9	UTSW	11	78,860,589 (GRCm39)	missense	possibly damaging	0.63
R4157:Lgals9	UTSW	11	78,863,933 (GRCm39)	missense	possibly damaging	0.88
R4204:Lgals9	UTSW	11	78,860,642 (GRCm39)	splice site	probably benign
R4892:Lgals9	UTSW	11	78,856,909 (GRCm39)	missense	probably benign	0.00
R5650:Lgals9	UTSW	11	78,863,980 (GRCm39)	missense	probably damaging	0.97
R6155:Lgals9	UTSW	11	78,854,331 (GRCm39)	missense	probably benign	0.16
R6166:Lgals9	UTSW	11	78,862,184 (GRCm39)	missense	probably benign	0.14
R6405:Lgals9	UTSW	11	78,862,211 (GRCm39)	missense	probably benign	0.42
R6853:Lgals9	UTSW	11	78,856,832 (GRCm39)	missense	probably benign	0.16
R8035:Lgals9	UTSW	11	78,854,302 (GRCm39)	nonsense	probably null
R8862:Lgals9	UTSW	11	78,860,716 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGGGATGCAGCCCTCACATCAC -3'
(R):5'- GCCAGATGCTACGAGGTAAGACAAC -3'

Sequencing Primer
(F):5'- AGGCATCAGCCTGTATCCC -3'
(R):5'- GAGGTAAGACAACCCCCAGG -3'

Posted On

2013-06-12