Mutagenetix > Incidental Mutation

Incidental Mutation 'R6139:Lgals12'

488512

Institutional Source

Beutler Lab

Gene Symbol

Lgals12

Ensembl Gene

ENSMUSG00000024972

Gene Name

lectin, galactose binding, soluble 12

Synonyms

galectin-12, galectin-related inhibitor of proliferation, GRIP1

MMRRC Submission

044286-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6139 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7574025-7584558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7581742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 29 (T29S)

Ref Sequence

ENSEMBL: ENSMUSP00000124610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079902] [ENSMUST00000099729] [ENSMUST00000159983]

AlphaFold

Q91VD1

Predicted Effect

probably benign
Transcript: ENSMUST00000079902
AA Change: T29S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000078824
Gene: ENSMUSG00000024972
AA Change: T29S

Domain	Start	End	E-Value	Type
GLECT	25	161	1.18e-33	SMART
Gal-bind_lectin	31	160	1.45e-48	SMART
Gal-bind_lectin	181	301	3.6e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099729
AA Change: T29S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097318
Gene: ENSMUSG00000024972
AA Change: T29S

Domain	Start	End	E-Value	Type
GLECT	25	161	1.18e-33	SMART
Gal-bind_lectin	31	160	1.45e-48	SMART
Gal-bind_lectin	194	314	3.6e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159983
AA Change: T29S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124610
Gene: ENSMUSG00000024972
AA Change: T29S

Domain	Start	End	E-Value	Type
GLECT	25	161	1.18e-33	SMART
Gal-bind_lectin	31	160	1.45e-48	SMART
Gal-bind_lectin	194	314	3.6e-12	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lipolysis, reduced adiposity, and enhanced insulin sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,697,150 (GRCm39)	T250A	probably damaging	Het
Acacb	T	C	5: 114,350,713 (GRCm39)	I1074T	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Aebp1	A	G	11: 5,821,842 (GRCm39)	D747G	probably damaging	Het
Antxr2	A	C	5: 98,125,565 (GRCm39)		probably null	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Asap1	T	A	15: 64,038,388 (GRCm39)	I223F	possibly damaging	Het
C2cd5	A	C	6: 142,980,784 (GRCm39)	D669E	probably damaging	Het
Casz1	C	T	4: 149,036,154 (GRCm39)	T1472M	probably damaging	Het
Catsper4	A	G	4: 133,945,177 (GRCm39)	L154P	probably damaging	Het
Cep350	T	C	1: 155,829,025 (GRCm39)	E293G	probably benign	Het
Cma1	T	A	14: 56,180,157 (GRCm39)		probably null	Het
Ddx42	C	T	11: 106,130,843 (GRCm39)	A439V	probably damaging	Het
Disp2	T	A	2: 118,621,143 (GRCm39)	L625Q	probably damaging	Het
Dnah1	T	C	14: 31,007,984 (GRCm39)	D2141G	probably benign	Het
Dsp	T	C	13: 38,376,382 (GRCm39)	I1389T	probably damaging	Het
Fam81a	A	T	9: 70,010,100 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,821,388 (GRCm39)	D5707G	possibly damaging	Het
Gcnt4	G	A	13: 97,083,360 (GRCm39)	V219I	probably benign	Het
Gk2	A	G	5: 97,604,139 (GRCm39)	V233A	probably benign	Het
Grm1	T	C	10: 10,622,075 (GRCm39)		probably benign	Het
Gsap	T	A	5: 21,486,538 (GRCm39)	V649D	probably damaging	Het
Kif1b	G	A	4: 149,321,989 (GRCm39)	H977Y	possibly damaging	Het
Ktn1	T	A	14: 47,963,672 (GRCm39)		probably null	Het
Me3	G	T	7: 89,282,108 (GRCm39)		probably benign	Het
Mgst3	T	G	1: 167,205,874 (GRCm39)	K35T	possibly damaging	Het
Mtmr9	T	C	14: 63,767,227 (GRCm39)	R354G	probably benign	Het
Myh11	T	C	16: 14,033,738 (GRCm39)	E1059G	probably damaging	Het
Nr4a2	T	A	2: 56,998,701 (GRCm39)	H408L	probably damaging	Het
Or56b35	A	T	7: 104,963,453 (GRCm39)	T81S	probably damaging	Het
Or5ak23	A	T	2: 85,244,690 (GRCm39)	F178I	probably damaging	Het
Pds5b	T	A	5: 150,724,242 (GRCm39)	L1275Q	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pop1	T	A	15: 34,529,204 (GRCm39)	C745S	probably benign	Het
Ptpn14	T	G	1: 189,583,362 (GRCm39)	S736R	probably benign	Het
Rdh9	A	T	10: 127,612,606 (GRCm39)	T85S	possibly damaging	Het
Rnf223	T	C	4: 156,217,260 (GRCm39)	C212R	probably damaging	Het
Rnf39	A	G	17: 37,254,230 (GRCm39)	E84G	probably damaging	Het
Sfmbt1	T	A	14: 30,533,375 (GRCm39)	V584D	probably damaging	Het
Slc12a5	T	A	2: 164,834,231 (GRCm39)	S728T	probably damaging	Het
Slc16a12	T	A	19: 34,648,295 (GRCm39)		probably null	Het
Snupn	C	A	9: 56,890,108 (GRCm39)	Q310K	possibly damaging	Het
St7	T	C	6: 17,694,353 (GRCm39)	L48P	probably damaging	Het
Thsd7a	T	C	6: 12,379,572 (GRCm39)	N951D	possibly damaging	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Ugt2b36	A	T	5: 87,240,030 (GRCm39)	D118E	probably benign	Het
Vmn2r7	G	A	3: 64,623,339 (GRCm39)	T327I	probably damaging	Het
Wdr70	T	C	15: 8,108,735 (GRCm39)	D137G	probably benign	Het
Wrn	A	T	8: 33,843,360 (GRCm39)	M14K	probably damaging	Het
Xpot	T	A	10: 121,447,613 (GRCm39)	E283V	probably benign	Het

Other mutations in Lgals12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Lgals12	APN	19	7,584,019 (GRCm39)	splice site	probably benign
IGL02630:Lgals12	APN	19	7,578,607 (GRCm39)	splice site	probably benign
IGL02700:Lgals12	APN	19	7,575,455 (GRCm39)	missense	probably benign	0.01
R0129:Lgals12	UTSW	19	7,580,403 (GRCm39)	missense	probably damaging	0.99
R1398:Lgals12	UTSW	19	7,581,322 (GRCm39)	splice site	probably benign
R1421:Lgals12	UTSW	19	7,584,079 (GRCm39)	missense	probably benign	0.08
R1548:Lgals12	UTSW	19	7,581,677 (GRCm39)	missense	probably benign	0.12
R1697:Lgals12	UTSW	19	7,581,530 (GRCm39)	missense	possibly damaging	0.91
R2075:Lgals12	UTSW	19	7,576,210 (GRCm39)	missense	possibly damaging	0.81
R2192:Lgals12	UTSW	19	7,578,606 (GRCm39)	splice site	probably null
R2253:Lgals12	UTSW	19	7,584,130 (GRCm39)	start gained	probably benign
R4256:Lgals12	UTSW	19	7,584,081 (GRCm39)	missense	possibly damaging	0.93
R4738:Lgals12	UTSW	19	7,581,464 (GRCm39)	missense	probably benign	0.01
R5495:Lgals12	UTSW	19	7,581,495 (GRCm39)	missense	probably damaging	1.00
R5810:Lgals12	UTSW	19	7,584,085 (GRCm39)	missense	probably benign	0.00
R7414:Lgals12	UTSW	19	7,581,335 (GRCm39)	missense	probably damaging	1.00
R8755:Lgals12	UTSW	19	7,581,345 (GRCm39)	missense	possibly damaging	0.95
R8920:Lgals12	UTSW	19	7,576,166 (GRCm39)	missense	possibly damaging	0.55
R9334:Lgals12	UTSW	19	7,578,086 (GRCm39)	missense	probably benign	0.01
R9441:Lgals12	UTSW	19	7,581,356 (GRCm39)	missense	probably damaging	1.00
X0067:Lgals12	UTSW	19	7,581,329 (GRCm39)	splice site	probably null
Z1177:Lgals12	UTSW	19	7,575,445 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTGCCTACAGAAATCAATCCT -3'
(R):5'- GCTCCTTCCCTACTAGGACA -3'

Sequencing Primer
(F):5'- TCCTAAAGGTAGAGAGGAACTCC -3'
(R):5'- TGCTTTTAATCGCAGCCCAGAAG -3'

Posted On

2017-10-10