Mutagenetix > Incidental Mutation

Incidental Mutation 'R6526:Lct'

521793

Institutional Source

Beutler Lab

Gene Symbol

Lct

Ensembl Gene

ENSMUSG00000026354

Gene Name

lactase

Synonyms

LPH, LOC226413, Lphl

MMRRC Submission

044652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128212493-128256055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128228215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1093 (S1093T)

Ref Sequence

ENSEMBL: ENSMUSP00000073190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073490]

AlphaFold

F8VPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000073490
AA Change: S1093T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: S1093T

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_1	76	226	1.6e-19	PFAM
low complexity region	322	340	N/A	INTRINSIC
Pfam:Glyco_hydro_1	380	849	4.8e-169	PFAM
low complexity region	865	875	N/A	INTRINSIC
Pfam:Glyco_hydro_1	902	1368	3.7e-181	PFAM
Pfam:Glyco_hydro_1	1377	1844	6.9e-183	PFAM
transmembrane domain	1885	1907	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,331 (GRCm39)		probably null	Het
Abcc3	C	T	11: 94,250,198 (GRCm39)	G975D	probably benign	Het
Abhd13	G	A	8: 10,037,777 (GRCm39)	G125S	probably damaging	Het
Ache	T	A	5: 137,288,906 (GRCm39)	L204Q	probably damaging	Het
Acnat2	A	G	4: 49,383,497 (GRCm39)	S19P	probably benign	Het
Adprh	A	G	16: 38,267,638 (GRCm39)	Y216H	probably benign	Het
Anapc1	T	A	2: 128,514,055 (GRCm39)	K429*	probably null	Het
Anxa13	T	C	15: 58,208,353 (GRCm39)		noncoding transcript	Het
Aprt	A	C	8: 123,303,555 (GRCm39)	L6W	probably damaging	Het
Arhgef15	T	C	11: 68,840,820 (GRCm39)	T569A	probably damaging	Het
Atp11a	T	C	8: 12,914,999 (GRCm39)	L1139P	probably benign	Het
Atp2b4	A	G	1: 133,639,467 (GRCm39)	S1136P	probably damaging	Het
B9d1	T	A	11: 61,399,923 (GRCm39)	Y90*	probably null	Het
Btla	G	A	16: 45,059,457 (GRCm39)	A54T	probably damaging	Het
Cd63	T	C	10: 128,747,358 (GRCm39)	V35A	probably benign	Het
Chek2	T	C	5: 110,996,556 (GRCm39)	F173L	probably damaging	Het
Cntnap3	T	A	13: 64,929,702 (GRCm39)	N499I	possibly damaging	Het
Cog4	T	C	8: 111,608,418 (GRCm39)	L738P	probably damaging	Het
Cops6	T	C	5: 138,162,162 (GRCm39)		probably null	Het
Cpeb1	T	A	7: 81,011,417 (GRCm39)	I175F	probably benign	Het
Cyp3a16	C	T	5: 145,392,705 (GRCm39)	D174N	probably benign	Het
Dnah6	T	G	6: 73,051,687 (GRCm39)	I2984L	probably benign	Het
Dock10	A	T	1: 80,564,068 (GRCm39)	I540N	probably damaging	Het
Elf5	A	G	2: 103,269,578 (GRCm39)	Y53C	probably damaging	Het
Elmod2	T	C	8: 84,046,086 (GRCm39)	T164A	probably damaging	Het
Elp1	T	C	4: 56,798,812 (GRCm39)		probably null	Het
Epn3	A	G	11: 94,385,758 (GRCm39)		probably null	Het
Fam151a	A	T	4: 106,591,201 (GRCm39)	I15F	possibly damaging	Het
Gm11115	T	A	5: 88,301,909 (GRCm39)		probably null	Het
Golga3	T	A	5: 110,352,761 (GRCm39)	I884N	probably damaging	Het
Gria2	A	T	3: 80,599,776 (GRCm39)	F703I	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gtpbp2	A	T	17: 46,475,037 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,807,078 (GRCm39)	S2419P	probably damaging	Het
Inpp5d	T	C	1: 87,603,972 (GRCm39)		probably benign	Het
Kdm2b	C	A	5: 123,099,532 (GRCm39)	V136F	probably damaging	Het
Klra2	T	A	6: 131,198,839 (GRCm39)	D234V	probably benign	Het
Marchf9	A	G	10: 126,892,558 (GRCm39)	L310P	probably benign	Het
Morc1	G	T	16: 48,407,487 (GRCm39)	E668*	probably null	Het
Nbas	A	T	12: 13,455,426 (GRCm39)	L1213F	probably damaging	Het
Neto1	A	G	18: 86,516,873 (GRCm39)	T397A	possibly damaging	Het
Oit3	A	G	10: 59,265,462 (GRCm39)	C268R	probably damaging	Het
Or5p55	A	G	7: 107,566,669 (GRCm39)	T22A	probably benign	Het
Pcx	T	C	19: 4,654,523 (GRCm39)	F312L	probably benign	Het
Pitx2	T	C	3: 129,008,432 (GRCm39)		probably null	Het
Pkhd1l1	G	A	15: 44,361,485 (GRCm39)		probably null	Het
Polr1a	C	A	6: 71,906,427 (GRCm39)	D414E	possibly damaging	Het
Pramel27	A	G	4: 143,579,384 (GRCm39)	D323G	probably damaging	Het
Prkch	T	C	12: 73,749,549 (GRCm39)	Y381H	probably damaging	Het
Ptger3	T	A	3: 157,273,139 (GRCm39)	V162E	probably damaging	Het
Ptgr2	T	G	12: 84,360,726 (GRCm39)	M332R	probably damaging	Het
Ptprq	G	T	10: 107,378,514 (GRCm39)	S2009*	probably null	Het
Pwwp3a	A	G	10: 80,068,113 (GRCm39)	T86A	probably benign	Het
Rangrf	C	T	11: 68,864,514 (GRCm39)	G11R	probably damaging	Het
Rbl2	A	T	8: 91,823,467 (GRCm39)	Q465L	probably benign	Het
Rhbdd1	A	T	1: 82,318,380 (GRCm39)	M88L	probably benign	Het
Setd2	G	A	9: 110,361,785 (GRCm39)	M13I	probably benign	Het
Sirpb1a	T	C	3: 15,444,080 (GRCm39)	Y384C	probably damaging	Het
Slc13a1	C	T	6: 24,097,611 (GRCm39)	G439S	probably damaging	Het
Slc41a1	T	A	1: 131,768,887 (GRCm39)	I239N	probably damaging	Het
Slit2	T	A	5: 48,461,509 (GRCm39)	C1502S	probably damaging	Het
Slit3	G	A	11: 35,552,119 (GRCm39)	E888K	probably benign	Het
Srrm3	G	T	5: 135,864,088 (GRCm39)	R62L	probably damaging	Het
Synm	A	G	7: 67,385,331 (GRCm39)	V777A	possibly damaging	Het
Trmt13	T	A	3: 116,385,864 (GRCm39)	N31I	probably damaging	Het
Trpm8	G	A	1: 88,289,720 (GRCm39)	E893K	probably damaging	Het
Uqcc1	A	G	2: 155,693,343 (GRCm39)	F197S	probably damaging	Het
Vmn1r67	T	A	7: 10,181,598 (GRCm39)	N287K	probably benign	Het
Vmn2r44	A	T	7: 8,381,098 (GRCm39)	M265K	probably benign	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xdh	C	A	17: 74,207,546 (GRCm39)	C937F	probably damaging	Het
Zfp846	T	A	9: 20,505,167 (GRCm39)	N342K	probably benign	Het

Other mutations in Lct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Lct	APN	1	128,215,293 (GRCm39)	missense	probably benign	0.09
IGL00970:Lct	APN	1	128,231,805 (GRCm39)	missense	probably damaging	1.00
IGL01022:Lct	APN	1	128,228,596 (GRCm39)	missense	probably benign
IGL01878:Lct	APN	1	128,222,003 (GRCm39)	missense	probably damaging	1.00
IGL01892:Lct	APN	1	128,235,342 (GRCm39)	missense	probably damaging	1.00
IGL02307:Lct	APN	1	128,214,327 (GRCm39)	missense	possibly damaging	0.70
IGL02434:Lct	APN	1	128,231,527 (GRCm39)	missense	probably damaging	0.97
IGL02559:Lct	APN	1	128,222,003 (GRCm39)	missense	probably damaging	1.00
IGL02623:Lct	APN	1	128,235,988 (GRCm39)	missense	probably benign	0.01
IGL02818:Lct	APN	1	128,227,905 (GRCm39)	missense	probably damaging	1.00
IGL02949:Lct	APN	1	128,240,869 (GRCm39)	missense	probably benign	0.26
IGL02951:Lct	APN	1	128,227,948 (GRCm39)	missense	probably damaging	1.00
IGL03087:Lct	APN	1	128,228,112 (GRCm39)	missense	possibly damaging	0.81
IGL03227:Lct	APN	1	128,255,426 (GRCm39)	missense	probably benign	0.09
ANU18:Lct	UTSW	1	128,235,784 (GRCm39)	nonsense	probably null
R0071:Lct	UTSW	1	128,219,755 (GRCm39)	nonsense	probably null
R0071:Lct	UTSW	1	128,219,755 (GRCm39)	nonsense	probably null
R0135:Lct	UTSW	1	128,212,860 (GRCm39)	missense	probably damaging	0.98
R0145:Lct	UTSW	1	128,255,632 (GRCm39)	missense	probably benign	0.00
R0179:Lct	UTSW	1	128,255,422 (GRCm39)	missense	probably benign
R0331:Lct	UTSW	1	128,226,479 (GRCm39)	splice site	probably benign
R0366:Lct	UTSW	1	128,214,199 (GRCm39)	missense	probably benign	0.03
R0399:Lct	UTSW	1	128,228,262 (GRCm39)	missense	probably damaging	1.00
R0492:Lct	UTSW	1	128,228,319 (GRCm39)	missense	probably damaging	1.00
R0548:Lct	UTSW	1	128,212,932 (GRCm39)	missense	probably damaging	1.00
R0691:Lct	UTSW	1	128,235,971 (GRCm39)	missense	probably benign	0.00
R0755:Lct	UTSW	1	128,221,872 (GRCm39)	missense	possibly damaging	0.46
R0839:Lct	UTSW	1	128,214,346 (GRCm39)	missense	probably benign	0.00
R1128:Lct	UTSW	1	128,229,046 (GRCm39)	missense	probably damaging	0.99
R1135:Lct	UTSW	1	128,221,861 (GRCm39)	critical splice donor site	probably null
R1321:Lct	UTSW	1	128,227,759 (GRCm39)	missense	probably benign
R1448:Lct	UTSW	1	128,235,559 (GRCm39)	missense	probably damaging	0.99
R1450:Lct	UTSW	1	128,235,640 (GRCm39)	missense	probably damaging	1.00
R1572:Lct	UTSW	1	128,221,932 (GRCm39)	missense	probably benign	0.25
R1582:Lct	UTSW	1	128,228,299 (GRCm39)	missense	probably damaging	1.00
R1668:Lct	UTSW	1	128,215,459 (GRCm39)	splice site	probably null
R1757:Lct	UTSW	1	128,228,994 (GRCm39)	missense	probably damaging	1.00
R1775:Lct	UTSW	1	128,228,038 (GRCm39)	missense	probably damaging	1.00
R1792:Lct	UTSW	1	128,255,679 (GRCm39)	missense	possibly damaging	0.54
R1815:Lct	UTSW	1	128,227,896 (GRCm39)	missense	probably damaging	1.00
R1932:Lct	UTSW	1	128,221,898 (GRCm39)	missense	probably damaging	1.00
R2325:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R2381:Lct	UTSW	1	128,231,858 (GRCm39)	nonsense	probably null
R3001:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3002:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3003:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3011:Lct	UTSW	1	128,229,109 (GRCm39)	missense	possibly damaging	0.74
R3082:Lct	UTSW	1	128,215,345 (GRCm39)	missense	probably damaging	1.00
R3683:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3684:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3726:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3886:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3887:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R3888:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R4019:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R4027:Lct	UTSW	1	128,212,918 (GRCm39)	missense	probably benign	0.00
R4226:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R4409:Lct	UTSW	1	128,231,963 (GRCm39)	missense	probably damaging	1.00
R4514:Lct	UTSW	1	128,228,251 (GRCm39)	missense	probably benign
R4570:Lct	UTSW	1	128,227,641 (GRCm39)	missense	probably benign	0.01
R4776:Lct	UTSW	1	128,228,124 (GRCm39)	missense	probably damaging	0.99
R5001:Lct	UTSW	1	128,235,978 (GRCm39)	missense	probably damaging	0.96
R5021:Lct	UTSW	1	128,228,302 (GRCm39)	missense	probably benign	0.38
R5318:Lct	UTSW	1	128,232,109 (GRCm39)	missense	probably damaging	1.00
R5330:Lct	UTSW	1	128,226,266 (GRCm39)	missense	probably benign	0.06
R5385:Lct	UTSW	1	128,239,354 (GRCm39)	missense	possibly damaging	0.63
R5499:Lct	UTSW	1	128,214,414 (GRCm39)	missense	probably damaging	1.00
R5508:Lct	UTSW	1	128,221,868 (GRCm39)	missense	probably damaging	1.00
R5642:Lct	UTSW	1	128,222,969 (GRCm39)	missense	probably damaging	1.00
R5724:Lct	UTSW	1	128,228,073 (GRCm39)	missense	probably benign
R6026:Lct	UTSW	1	128,227,755 (GRCm39)	missense	probably benign
R6044:Lct	UTSW	1	128,235,717 (GRCm39)	missense	possibly damaging	0.95
R6175:Lct	UTSW	1	128,255,451 (GRCm39)	missense	probably damaging	1.00
R6277:Lct	UTSW	1	128,231,974 (GRCm39)	missense	probably benign	0.01
R6412:Lct	UTSW	1	128,255,455 (GRCm39)	missense	probably benign	0.00
R6480:Lct	UTSW	1	128,222,057 (GRCm39)	missense	probably damaging	1.00
R6620:Lct	UTSW	1	128,222,809 (GRCm39)	critical splice donor site	probably null
R7214:Lct	UTSW	1	128,228,197 (GRCm39)	missense	probably benign	0.00
R7308:Lct	UTSW	1	128,246,824 (GRCm39)	missense	probably benign	0.00
R7577:Lct	UTSW	1	128,228,469 (GRCm39)	missense	probably damaging	0.99
R7626:Lct	UTSW	1	128,212,932 (GRCm39)	missense	probably damaging	1.00
R7737:Lct	UTSW	1	128,226,430 (GRCm39)	missense	probably benign	0.12
R7901:Lct	UTSW	1	128,216,722 (GRCm39)	missense	probably benign	0.44
R8033:Lct	UTSW	1	128,212,996 (GRCm39)	missense	probably benign	0.03
R8373:Lct	UTSW	1	128,231,577 (GRCm39)	missense	probably damaging	1.00
R8504:Lct	UTSW	1	128,215,306 (GRCm39)	missense	probably damaging	1.00
R8751:Lct	UTSW	1	128,221,534 (GRCm39)	missense	probably benign	0.18
R8781:Lct	UTSW	1	128,215,261 (GRCm39)	missense	probably damaging	1.00
R8797:Lct	UTSW	1	128,231,684 (GRCm39)	missense	possibly damaging	0.77
R8926:Lct	UTSW	1	128,228,148 (GRCm39)	missense	probably damaging	1.00
R8949:Lct	UTSW	1	128,221,929 (GRCm39)	missense	probably damaging	1.00
R8992:Lct	UTSW	1	128,228,299 (GRCm39)	missense	probably damaging	1.00
R9138:Lct	UTSW	1	128,227,894 (GRCm39)	missense	probably benign	0.03
R9260:Lct	UTSW	1	128,227,704 (GRCm39)	nonsense	probably null
R9416:Lct	UTSW	1	128,228,329 (GRCm39)	missense	possibly damaging	0.74
R9531:Lct	UTSW	1	128,235,598 (GRCm39)	missense	probably benign	0.00
X0052:Lct	UTSW	1	128,235,367 (GRCm39)	missense	probably damaging	1.00
YA93:Lct	UTSW	1	128,229,057 (GRCm39)	missense	probably damaging	1.00
Z1176:Lct	UTSW	1	128,215,348 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAACTGCAGCATCCGGTCAG -3'
(R):5'- GGTGACACTCTTTCACTGGGAC -3'

Sequencing Primer
(F):5'- TCAGCGGCTTCCACGTC -3'
(R):5'- AGGCCCTCCAGGATATTGG -3'

Posted On

2018-06-06