Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Lct'

596297

Institutional Source

Beutler Lab

Gene Symbol

Lct

Ensembl Gene

ENSMUSG00000026354

Gene Name

lactase

Synonyms

LPH, LOC226413, Lphl

MMRRC Submission

045793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7737 (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 128226430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1320 (W1320R)

Ref Sequence

ENSEMBL: ENSMUSP00000073190 (fasta)

Gene Model

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

AlphaFold

F8VPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000073490
AA Change: W1320R

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: W1320R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,463,566 (GRCm39)		probably null	Het
Akap3	T	A	6: 126,851,065 (GRCm39)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,254,470 (GRCm39)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,250,728 (GRCm39)	E493G	possibly damaging	Het
Arvcf	G	A	16: 18,214,966 (GRCm39)	R119Q	probably damaging	Het
Asmt	T	C	X: 169,110,175 (GRCm39)	F228S	probably damaging	Het
Atp2c2	T	A	8: 120,469,134 (GRCm39)	V349E	probably damaging	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,558,332 (GRCm39)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,463,926 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,603,338 (GRCm39)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,357,649 (GRCm39)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,861,302 (GRCm39)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,530,331 (GRCm39)	Y93*	probably null	Het
Fcgbpl1	T	A	7: 27,856,498 (GRCm39)	V2095E	probably damaging	Het
Gak	A	C	5: 108,764,874 (GRCm39)	L84R	probably benign	Het
Gm5458	A	T	14: 19,649,805 (GRCm39)		probably null	Het
Gpatch3	C	G	4: 133,302,407 (GRCm39)	Q113E	probably benign	Het
Gpld1	C	A	13: 25,159,709 (GRCm39)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,324,467 (GRCm39)	P234S	unknown	Het
Itga6	G	A	2: 71,652,787 (GRCm39)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,121,338 (GRCm39)	N872K	probably benign	Het
Klhl14	G	T	18: 21,691,191 (GRCm39)	Y446*	probably null	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,326,782 (GRCm39)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,699,649 (GRCm39)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,400,003 (GRCm39)		probably null	Het
Mettl15	T	C	2: 108,967,723 (GRCm39)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 39,879,274 (GRCm39)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,164,235 (GRCm39)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,280,150 (GRCm39)	Q803*	probably null	Het
Mtor	A	C	4: 148,623,195 (GRCm39)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,778,749 (GRCm39)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,147,257 (GRCm39)	Y95*	probably null	Het
Nf1	A	G	11: 79,436,314 (GRCm39)	I1985V	probably benign	Het
Noxred1	G	A	12: 87,268,136 (GRCm39)	Q332*	probably null	Het
Nudt21	A	T	8: 94,749,461 (GRCm39)	Y202N	probably damaging	Het
Odad2	A	G	18: 7,217,890 (GRCm39)	L608P	probably damaging	Het
Or1j16	A	T	2: 36,530,632 (GRCm39)	I194F	probably benign	Het
Pik3c2a	A	T	7: 115,955,488 (GRCm39)	S1176T	probably damaging	Het
Pramel14	A	C	4: 143,718,526 (GRCm39)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rbmxl1	A	G	8: 79,232,252 (GRCm39)	S364P	unknown	Het
Rnf24	T	A	2: 131,145,416 (GRCm39)	K131N	probably benign	Het
Scai	T	A	2: 39,013,034 (GRCm39)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,881,297 (GRCm39)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,936,796 (GRCm39)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,874,127 (GRCm39)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,856 (GRCm39)	A427S	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stk16	G	T	1: 75,187,995 (GRCm39)	C8F	probably damaging	Het
Syne2	T	C	12: 75,989,622 (GRCm39)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,336,054 (GRCm39)		probably null	Het
Timp2	A	G	11: 118,194,721 (GRCm39)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,419,347 (GRCm39)	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,481,588 (GRCm39)	M112L	probably benign	Het
Trank1	G	T	9: 111,195,080 (GRCm39)	E1035*	probably null	Het
Trim5	C	T	7: 103,928,771 (GRCm39)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,821,910 (GRCm39)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,403,634 (GRCm39)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,547,016 (GRCm39)		probably null	Het
Zfp592	A	T	7: 80,674,941 (GRCm39)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,838,844 (GRCm39)	N62K	probably benign	Het
Zfp998	A	G	13: 66,581,738 (GRCm39)		probably null	Het
Zmynd11	G	A	13: 9,745,175 (GRCm39)	T248M	probably damaging	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
R6526:Lct	UTSW	1	128,228,215 (GRCm39)	missense	probably benign	0.05
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
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'- ACTCCAGATGAAGCCCTTGG -3'
(R):5'- AGTAACATGTTGCTCTCTTGGG -3'

Sequencing Primer
(F):5'- GATGAAGCCCTTGGGAAACTCTC -3'
(R):5'- TCTCTTGGGAAGCAAGTGACC -3'

Posted On

2019-11-26