Mutagenetix > Incidental Mutation

Incidental Mutation 'R9138:Lct'

694119

Institutional Source

Beutler Lab

Gene Symbol

Lct

Ensembl Gene

ENSMUSG00000026354

Gene Name

lactase

Synonyms

LPH, LOC226413, Lphl

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128212493-128256055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128227894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1200 (I1200V)

Ref Sequence

ENSEMBL: ENSMUSP00000073190 (fasta)

Gene Model

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

AlphaFold

F8VPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000073490
AA Change: I1200V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: I1200V

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adgre5	A	T	8: 84,452,563 (GRCm39)	N502K	probably benign	Het
Ago4	T	A	4: 126,414,073 (GRCm39)	K73*	probably null	Het
Angpt2	T	C	8: 18,764,162 (GRCm39)	I127V	probably benign	Het
Ankhd1	TGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGC	18: 36,693,961 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,722,626 (GRCm39)	I368N	probably damaging	Het
Arhgap5	A	G	12: 52,609,146 (GRCm39)	I1374V	probably benign	Het
B3galt9	T	C	2: 34,728,920 (GRCm39)	Y240H	probably damaging	Het
Bltp3b	T	A	10: 89,615,738 (GRCm39)	V127D	probably damaging	Het
Caln1	T	C	5: 130,698,449 (GRCm39)	L157P	probably damaging	Het
Cdh9	G	T	15: 16,823,273 (GRCm39)	G85V	probably damaging	Het
Chrna4	A	G	2: 180,670,775 (GRCm39)	V327A	probably damaging	Het
Col11a2	T	C	17: 34,279,847 (GRCm39)	S1156P		Het
Cps1	G	A	1: 67,254,569 (GRCm39)	V1253M	probably damaging	Het
Crb1	T	C	1: 139,162,468 (GRCm39)	E1291G		Het
Dab1	A	T	4: 104,588,929 (GRCm39)	K518*	probably null	Het
Ddias	A	T	7: 92,507,608 (GRCm39)	I769N	possibly damaging	Het
Dlg5	G	T	14: 24,295,376 (GRCm39)	A48E	probably damaging	Het
Dok1	G	T	6: 83,009,806 (GRCm39)	A101E	probably damaging	Het
Dpf2	T	C	19: 5,948,593 (GRCm39)	N389S	probably benign	Het
Evi5l	T	A	8: 4,233,582 (GRCm39)	S22T	probably benign	Het
Garin5b	A	G	7: 4,773,406 (GRCm39)	F137S		Het
Gm5431	T	A	11: 48,780,498 (GRCm39)	R141S	probably benign	Het
Gmds	A	T	13: 32,311,035 (GRCm39)	Y197*	probably null	Het
Gprc5a	T	A	6: 135,056,164 (GRCm39)	S204T	probably damaging	Het
H2bc1	T	C	13: 24,118,112 (GRCm39)	T10A	probably benign	Het
Hoxd12	T	A	2: 74,505,902 (GRCm39)	S158T	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kif16b	C	A	2: 142,542,476 (GRCm39)	E273D		Het
Lrrfip1	T	A	1: 91,038,080 (GRCm39)	L398I	probably damaging	Het
Mcm4	T	C	16: 15,447,200 (GRCm39)	E588G	probably damaging	Het
Mdga2	C	T	12: 66,615,663 (GRCm39)	G648D	possibly damaging	Het
Mfrp	A	G	9: 44,017,673 (GRCm39)	Q555R	possibly damaging	Het
Mtf1	C	T	4: 124,732,510 (GRCm39)	Q523*	probably null	Het
Naf1	A	G	8: 67,317,198 (GRCm39)	D230G	possibly damaging	Het
Nbeal1	G	T	1: 60,286,904 (GRCm39)	E909*	probably null	Het
Nxt1	C	A	2: 148,517,572 (GRCm39)	N104K	probably benign	Het
Ocstamp	T	A	2: 165,237,864 (GRCm39)	T467S	probably benign	Het
Or1j19	A	G	2: 36,676,702 (GRCm39)	H55R	probably benign	Het
Or4n4b	T	C	14: 50,536,494 (GRCm39)	I91V	probably benign	Het
Or5b123	T	A	19: 13,596,658 (GRCm39)	M44K	probably damaging	Het
Pcdhgc5	A	C	18: 37,953,892 (GRCm39)	T389P	probably benign	Het
Peak1	A	T	9: 56,164,925 (GRCm39)	V1001E	probably benign	Het
Phf11d	C	A	14: 59,602,833 (GRCm39)	C9F	probably benign	Het
Pkd1l2	T	A	8: 117,781,748 (GRCm39)	T766S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,595 (GRCm39)	N57K		Het
Ptpro	T	A	6: 137,388,113 (GRCm39)		probably null	Het
Rasa1	T	C	13: 85,369,635 (GRCm39)	I896V	possibly damaging	Het
Rasa4	T	C	5: 136,131,455 (GRCm39)	L483P	possibly damaging	Het
Septin7	A	G	9: 25,212,761 (GRCm39)	Y309C	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slco3a1	A	T	7: 74,009,664 (GRCm39)	I217N	probably damaging	Het
Son	C	T	16: 91,452,006 (GRCm39)	T251I	possibly damaging	Het
Spata31e2	C	T	1: 26,721,253 (GRCm39)	C1309Y	possibly damaging	Het
Spen	T	C	4: 141,196,797 (GRCm39)	D3566G	probably damaging	Het
Stag1	T	C	9: 100,829,335 (GRCm39)	V1089A	probably benign	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,718,958 (GRCm39)	E354G	probably damaging	Het
Timd6	A	T	11: 46,468,126 (GRCm39)	T67S	probably damaging	Het
Tmem63c	T	C	12: 87,128,601 (GRCm39)	F542S	probably damaging	Het
Trav12-2	T	C	14: 53,854,178 (GRCm39)	S51P	probably benign	Het
Upf2	T	A	2: 6,028,132 (GRCm39)	D739E	unknown	Het
Vmn1r193	A	T	13: 22,403,844 (GRCm39)	H49Q	probably damaging	Het
Vmn2r11	T	C	5: 109,201,904 (GRCm39)	D200G	probably damaging	Het
Vmn2r114	C	A	17: 23,510,578 (GRCm39)	C634F	probably damaging	Het
Zfp444	A	G	7: 6,192,690 (GRCm39)	H236R	probably damaging	Het
Zfp712	A	G	13: 67,189,318 (GRCm39)	L403P	probably damaging	Het
Zmpste24	T	G	4: 120,923,018 (GRCm39)	Y399S	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
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
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'- GATCCAGTTCAGCAACCTCC -3'
(R):5'- TCAACACTCACTGGGTCGAAC -3'

Sequencing Primer
(F):5'- AGTTCAGCAACCTCCTCATC -3'
(R):5'- TCCAAAGGGACGTGGAAGCC -3'

Posted On

2022-01-20