Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Lct'

507686

Institutional Source

Beutler Lab

Gene Symbol

Lct

Ensembl Gene

ENSMUSG00000026354

Gene Name

lactase

Synonyms

LPH, LOC226413, Lphl

MMRRC Submission

044447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6277 (G1)

Quality Score

159.009

Status

Validated

Chromosome

Chromosomal Location

128212493-128256055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128231974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 625 (Y625F)

Ref Sequence

ENSEMBL: ENSMUSP00000073190 (fasta)

Gene Model

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

AlphaFold

F8VPT3

Predicted Effect

probably benign
Transcript: ENSMUST00000073490
AA Change: Y625F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000073190
Gene: ENSMUSG00000026354
AA Change: Y625F

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,651 (GRCm39)	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,088,668 (GRCm39)	Y179*	probably null	Het
Abca7	G	C	10: 79,841,992 (GRCm39)	V1042L	probably benign	Het
Adck5	C	A	15: 76,477,463 (GRCm39)	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,109,896 (GRCm39)	T823A	probably benign	Het
Adra1d	G	T	2: 131,403,083 (GRCm39)	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,619,337 (GRCm39)	M749K	probably damaging	Het
Arid4a	A	G	12: 71,086,665 (GRCm39)	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,275,893 (GRCm39)	T317A	probably benign	Het
Bicc1	T	C	10: 70,863,731 (GRCm39)	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,620,808 (GRCm39)	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,857,272 (GRCm39)	Q26L	probably damaging	Het
Celf3	T	C	3: 94,392,672 (GRCm39)	C124R	probably damaging	Het
Cfap44	A	G	16: 44,257,669 (GRCm39)	E1068G	probably benign	Het
Crybg1	T	A	10: 43,873,255 (GRCm39)	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,272,119 (GRCm39)	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,285,866 (GRCm39)	P675L	probably damaging	Het
Dnah12	A	T	14: 26,492,439 (GRCm39)	H1193L	probably damaging	Het
Efcab3	G	C	11: 104,901,148 (GRCm39)	E4422D	possibly damaging	Het
Ern2	A	G	7: 121,785,330 (GRCm39)	F16L	probably benign	Het
Fam163b	G	T	2: 27,002,763 (GRCm39)	T78N	probably benign	Het
Fbxw21	A	T	9: 108,974,623 (GRCm39)	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,432,299 (GRCm39)	N344S	probably benign	Het
Git2	A	G	5: 114,871,308 (GRCm39)	I202T	probably damaging	Het
Gm11595	G	T	11: 99,663,510 (GRCm39)	P57T	unknown	Het
Gm12258	G	A	11: 58,745,113 (GRCm39)	V15M	probably damaging	Het
Gm15056	C	T	8: 21,390,914 (GRCm39)	G40S	probably damaging	Het
Gnal	C	A	18: 67,346,143 (GRCm39)	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,371,583 (GRCm39)		probably null	Het
Ighv7-2	A	G	12: 113,876,087 (GRCm39)	I6T	probably benign	Het
Irf9	A	G	14: 55,845,109 (GRCm39)	D323G	probably benign	Het
Klhl23	G	T	2: 69,664,096 (GRCm39)	D482Y	probably damaging	Het
Lama4	A	G	10: 38,982,006 (GRCm39)	N1745S	probably damaging	Het
Lrrc26	T	C	2: 25,180,116 (GRCm39)	V39A	probably benign	Het
Mllt6	G	A	11: 97,564,774 (GRCm39)	A527T	probably damaging	Het
Mrgprb4	T	A	7: 47,848,649 (GRCm39)	D93V	probably benign	Het
Nlrp5	A	G	7: 23,120,880 (GRCm39)	D698G	probably damaging	Het
Or13p10	T	A	4: 118,523,520 (GRCm39)	S269T	probably benign	Het
Pacsin1	T	A	17: 27,924,969 (GRCm39)		probably null	Het
Padi3	A	T	4: 140,518,472 (GRCm39)		probably null	Het
Pcdha8	T	C	18: 37,127,411 (GRCm39)	I631T	probably damaging	Het
Pkn3	G	A	2: 29,972,957 (GRCm39)	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 146,907,422 (GRCm39)	D228E	probably benign	Het
Prag1	G	T	8: 36,613,745 (GRCm39)	R1099L	probably damaging	Het
Pramel31	A	G	4: 144,090,223 (GRCm39)	E421G	probably damaging	Het
Prr36	A	G	8: 4,264,746 (GRCm39)		probably benign	Het
Prrc2c	A	G	1: 162,541,883 (GRCm39)	S369P	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Slc9c1	G	A	16: 45,427,204 (GRCm39)		probably benign	Het
Slit1	G	A	19: 41,588,948 (GRCm39)	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,669,635 (GRCm39)	T261M	probably benign	Het
Spata17	G	A	1: 186,926,151 (GRCm39)	R60*	probably null	Het
Speer4f1	A	G	5: 17,681,241 (GRCm39)	R40G	probably damaging	Het
Spns3	A	G	11: 72,420,466 (GRCm39)	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,716,344 (GRCm39)	I595V	probably benign	Het
Srms	G	A	2: 180,848,038 (GRCm39)	A489V	possibly damaging	Het
St3gal4	T	C	9: 34,964,558 (GRCm39)	N169S	probably damaging	Het
Taar5	T	A	10: 23,847,169 (GRCm39)	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,071,525 (GRCm39)	P333L	probably benign	Het
Tet3	G	T	6: 83,345,066 (GRCm39)	Y1790*	probably null	Het
Ticrr	T	A	7: 79,344,444 (GRCm39)	H1436Q	probably benign	Het
Top6bl	G	T	19: 4,677,250 (GRCm39)	S466*	probably null	Het
Ubl7	C	T	9: 57,830,555 (GRCm39)	L334F	possibly damaging	Het
Unc13a	A	G	8: 72,119,283 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,606,451 (GRCm39)	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,509,954 (GRCm39)	L842P	possibly damaging	Het
Vps35	G	T	8: 85,987,857 (GRCm39)	Q765K	possibly damaging	Het
Zfp87	G	T	13: 74,520,643 (GRCm39)	S145*	probably null	Het
Zgrf1	C	T	3: 127,392,461 (GRCm39)	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,718,983 (GRCm39)	S334R	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
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
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'- AAATCCGCAGAGCCTTTCAG -3'
(R):5'- TCAGCAGGAACTTGGGAAC -3'

Sequencing Primer
(F):5'- AGCCTTTCAGGAGCCGCTTC -3'
(R):5'- GAACAGTGACTTGATAGTGTCTCTC -3'

Posted On

2018-03-15