Mutagenetix > Incidental Mutation

Incidental Mutation 'R0701:Sis'

63001

Institutional Source

Beutler Lab

Gene Symbol

Sis

Ensembl Gene

ENSMUSG00000027790

Gene Name

sucrase isomaltase

Synonyms

2010204N08Rik, Si-s, sucrase-isomaltase

MMRRC Submission

038884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0701 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

72795890-72875196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72848378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 632 (T632K)

Ref Sequence

ENSEMBL: ENSMUSP00000129116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094190] [ENSMUST00000167334]

AlphaFold

F8VQM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094190
AA Change: T632K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091742
Gene: ENSMUSG00000027790
AA Change: T632K

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
PD	51	103	1.92e-12	SMART
Pfam:NtCtMGAM_N	115	224	1.2e-35	PFAM
Pfam:Gal_mutarotas_2	225	294	4.8e-9	PFAM
Pfam:Glyco_hydro_31	314	787	2.1e-142	PFAM
PD	917	972	6.69e-12	SMART
Pfam:NtCtMGAM_N	985	1098	6e-33	PFAM
Blast:ANK	1138	1168	1e-5	BLAST
Pfam:Glyco_hydro_31	1186	1682	8.4e-137	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167334
AA Change: T632K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129116
Gene: ENSMUSG00000027790
AA Change: T632K

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
PD	51	103	1.92e-12	SMART
Pfam:NtCtMGAM_N	115	224	1.2e-35	PFAM
Pfam:Gal_mutarotas_2	225	294	4.8e-9	PFAM
Pfam:Glyco_hydro_31	314	787	2.1e-142	PFAM
PD	917	972	6.69e-12	SMART
Pfam:NtCtMGAM_N	985	1098	6e-33	PFAM
Blast:ANK	1138	1168	1e-5	BLAST
Pfam:Glyco_hydro_31	1186	1682	8.4e-137	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,571,995 (GRCm39)	V261A	probably benign	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Arhgef11	G	T	3: 87,640,766 (GRCm39)	A1308S	probably benign	Het
Bach1	G	A	16: 87,516,877 (GRCm39)	E473K	probably damaging	Het
Bsph1	G	T	7: 13,206,181 (GRCm39)	C72F	probably damaging	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
C9	A	C	15: 6,496,902 (GRCm39)	T200P	probably damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Copg1	T	A	6: 87,871,089 (GRCm39)	Y268*	probably null	Het
Csad	A	G	15: 102,087,571 (GRCm39)	S331P	probably benign	Het
Ddx31	G	T	2: 28,748,789 (GRCm39)	R239L	probably null	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Fig4	T	A	10: 41,116,508 (GRCm39)	R628*	probably null	Het
Fmnl3	T	C	15: 99,219,188 (GRCm39)	N778S	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Haus3	G	A	5: 34,323,359 (GRCm39)	T417M	probably benign	Het
Herc1	T	G	9: 66,395,232 (GRCm39)	V4189G	probably damaging	Het
Hoxb3	C	A	11: 96,237,074 (GRCm39)	S384*	probably null	Het
Ifnar2	A	G	16: 91,201,117 (GRCm39)	T453A	possibly damaging	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Lrriq1	A	T	10: 103,069,905 (GRCm39)	V37E	probably benign	Het
Lrrn4	G	A	2: 132,712,080 (GRCm39)	T581M	probably benign	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Mdn1	T	A	4: 32,699,263 (GRCm39)	D1313E	probably benign	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Mlh3	A	T	12: 85,314,677 (GRCm39)	I503K	probably benign	Het
Nckap5	A	G	1: 125,953,094 (GRCm39)	F1089L	probably benign	Het
Or1e35	A	T	11: 73,797,655 (GRCm39)	I221N	probably damaging	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Pdgfd	A	T	9: 6,359,706 (GRCm39)	D259V	probably damaging	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
R3hdm1	A	G	1: 128,109,476 (GRCm39)	Y309C	probably damaging	Het
Rab27b	A	T	18: 70,118,270 (GRCm39)	C216S	probably damaging	Het
Robo2	A	G	16: 73,843,762 (GRCm39)	I151T	probably damaging	Het
Sh2d4a	A	G	8: 68,783,747 (GRCm39)	D227G	probably damaging	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Stap1	T	C	5: 86,242,667 (GRCm39)		probably null	Het
Syt16	G	A	12: 74,281,886 (GRCm39)	V337I	probably benign	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Ttn	A	G	2: 76,728,412 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp6nl	A	G	2: 6,419,829 (GRCm39)	E144G	possibly damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zap70	G	A	1: 36,820,258 (GRCm39)	R513Q	probably damaging	Het

Other mutations in Sis

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Sis	APN	3	72,853,969 (GRCm39)	missense	probably benign
IGL00715:Sis	APN	3	72,841,457 (GRCm39)	missense	probably damaging	1.00
IGL00721:Sis	APN	3	72,850,912 (GRCm39)	missense	probably damaging	1.00
IGL00766:Sis	APN	3	72,814,570 (GRCm39)	splice site	probably benign
IGL00783:Sis	APN	3	72,853,965 (GRCm39)	missense	probably benign
IGL00805:Sis	APN	3	72,841,532 (GRCm39)	missense	probably benign	0.05
IGL00932:Sis	APN	3	72,848,289 (GRCm39)	splice site	probably benign
IGL01020:Sis	APN	3	72,874,171 (GRCm39)	missense	probably damaging	1.00
IGL01024:Sis	APN	3	72,819,209 (GRCm39)	missense	probably damaging	1.00
IGL01286:Sis	APN	3	72,848,358 (GRCm39)	missense	probably damaging	1.00
IGL01457:Sis	APN	3	72,868,354 (GRCm39)	missense	probably benign
IGL01514:Sis	APN	3	72,843,253 (GRCm39)	splice site	probably benign
IGL01986:Sis	APN	3	72,852,545 (GRCm39)	missense	probably damaging	1.00
IGL02110:Sis	APN	3	72,836,032 (GRCm39)	nonsense	probably null
IGL02132:Sis	APN	3	72,854,804 (GRCm39)	missense	probably benign	0.00
IGL02152:Sis	APN	3	72,796,319 (GRCm39)	utr 3 prime	probably benign
IGL02200:Sis	APN	3	72,850,937 (GRCm39)	missense	probably damaging	0.99
IGL02244:Sis	APN	3	72,863,523 (GRCm39)	missense	probably benign	0.19
IGL02307:Sis	APN	3	72,819,167 (GRCm39)	splice site	probably benign
IGL02374:Sis	APN	3	72,832,789 (GRCm39)	missense	probably benign	0.03
IGL02437:Sis	APN	3	72,826,947 (GRCm39)	critical splice acceptor site	probably null
IGL02571:Sis	APN	3	72,863,637 (GRCm39)	splice site	probably benign
IGL02601:Sis	APN	3	72,820,543 (GRCm39)	missense	probably benign	0.44
IGL03063:Sis	APN	3	72,835,630 (GRCm39)	missense	probably benign
IGL03382:Sis	APN	3	72,836,052 (GRCm39)	missense	probably benign	0.00
IGL03397:Sis	APN	3	72,843,212 (GRCm39)	missense	probably benign	0.44
PIT1430001:Sis	UTSW	3	72,830,162 (GRCm39)	missense	probably damaging	0.97
R0013:Sis	UTSW	3	72,817,809 (GRCm39)	missense	possibly damaging	0.65
R0013:Sis	UTSW	3	72,817,809 (GRCm39)	missense	possibly damaging	0.65
R0046:Sis	UTSW	3	72,839,427 (GRCm39)	missense	probably benign	0.01
R0094:Sis	UTSW	3	72,828,770 (GRCm39)	missense	probably damaging	1.00
R0096:Sis	UTSW	3	72,835,600 (GRCm39)	missense	probably damaging	1.00
R0505:Sis	UTSW	3	72,867,629 (GRCm39)	missense	probably benign	0.29
R0544:Sis	UTSW	3	72,858,975 (GRCm39)	missense	probably damaging	1.00
R0551:Sis	UTSW	3	72,832,740 (GRCm39)	missense	possibly damaging	0.79
R0617:Sis	UTSW	3	72,872,938 (GRCm39)	missense	probably damaging	1.00
R0698:Sis	UTSW	3	72,817,831 (GRCm39)	missense	probably damaging	1.00
R0704:Sis	UTSW	3	72,857,155 (GRCm39)	missense	possibly damaging	0.63
R0706:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0710:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0752:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0753:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0754:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0767:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0769:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0772:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0774:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0776:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0818:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0819:Sis	UTSW	3	72,859,864 (GRCm39)	missense	probably damaging	1.00
R0885:Sis	UTSW	3	72,819,282 (GRCm39)	nonsense	probably null
R1076:Sis	UTSW	3	72,841,431 (GRCm39)	missense	probably damaging	0.97
R1140:Sis	UTSW	3	72,858,949 (GRCm39)	missense	probably damaging	0.98
R1175:Sis	UTSW	3	72,865,437 (GRCm39)	splice site	probably benign
R1301:Sis	UTSW	3	72,853,915 (GRCm39)	missense	possibly damaging	0.76
R1437:Sis	UTSW	3	72,841,475 (GRCm39)	missense	probably damaging	1.00
R1466:Sis	UTSW	3	72,839,393 (GRCm39)	missense	possibly damaging	0.60
R1466:Sis	UTSW	3	72,839,393 (GRCm39)	missense	possibly damaging	0.60
R1472:Sis	UTSW	3	72,796,360 (GRCm39)	missense	probably benign	0.12
R1584:Sis	UTSW	3	72,839,393 (GRCm39)	missense	possibly damaging	0.60
R1707:Sis	UTSW	3	72,816,420 (GRCm39)	splice site	probably benign
R1715:Sis	UTSW	3	72,796,343 (GRCm39)	missense	possibly damaging	0.47
R1719:Sis	UTSW	3	72,872,937 (GRCm39)	missense	probably damaging	1.00
R1728:Sis	UTSW	3	72,872,978 (GRCm39)	nonsense	probably null
R1784:Sis	UTSW	3	72,872,978 (GRCm39)	nonsense	probably null
R1820:Sis	UTSW	3	72,828,475 (GRCm39)	missense	probably damaging	1.00
R1972:Sis	UTSW	3	72,828,337 (GRCm39)	missense	probably damaging	1.00
R1973:Sis	UTSW	3	72,828,337 (GRCm39)	missense	probably damaging	1.00
R2054:Sis	UTSW	3	72,820,570 (GRCm39)	missense	probably benign	0.01
R2233:Sis	UTSW	3	72,820,527 (GRCm39)	missense	probably benign	0.03
R2235:Sis	UTSW	3	72,820,527 (GRCm39)	missense	probably benign	0.03
R2276:Sis	UTSW	3	72,821,934 (GRCm39)	nonsense	probably null
R2435:Sis	UTSW	3	72,819,237 (GRCm39)	missense	probably benign	0.01
R2885:Sis	UTSW	3	72,816,506 (GRCm39)	missense	probably benign	0.01
R2966:Sis	UTSW	3	72,796,343 (GRCm39)	missense	probably benign	0.30
R3708:Sis	UTSW	3	72,850,856 (GRCm39)	missense	probably benign	0.02
R3790:Sis	UTSW	3	72,828,747 (GRCm39)	missense	probably damaging	1.00
R3807:Sis	UTSW	3	72,832,929 (GRCm39)	missense	probably benign	0.01
R3858:Sis	UTSW	3	72,835,985 (GRCm39)	missense	probably damaging	0.99
R3974:Sis	UTSW	3	72,850,968 (GRCm39)	missense	probably damaging	0.96
R3975:Sis	UTSW	3	72,850,968 (GRCm39)	missense	probably damaging	0.96
R4037:Sis	UTSW	3	72,835,935 (GRCm39)	missense	probably benign
R4080:Sis	UTSW	3	72,828,517 (GRCm39)	missense	probably damaging	1.00
R4204:Sis	UTSW	3	72,868,415 (GRCm39)	missense	probably benign
R4394:Sis	UTSW	3	72,863,482 (GRCm39)	missense	probably damaging	1.00
R4470:Sis	UTSW	3	72,835,492 (GRCm39)	splice site	probably null
R4573:Sis	UTSW	3	72,835,570 (GRCm39)	missense	possibly damaging	0.94
R4868:Sis	UTSW	3	72,850,881 (GRCm39)	missense	probably benign	0.09
R5023:Sis	UTSW	3	72,841,455 (GRCm39)	missense	probably benign	0.05
R5264:Sis	UTSW	3	72,857,089 (GRCm39)	missense	probably damaging	0.98
R5414:Sis	UTSW	3	72,859,826 (GRCm39)	missense	probably benign
R5462:Sis	UTSW	3	72,857,171 (GRCm39)	missense	probably damaging	0.96
R5523:Sis	UTSW	3	72,798,754 (GRCm39)	missense	probably benign	0.00
R5584:Sis	UTSW	3	72,817,748 (GRCm39)	missense	probably damaging	1.00
R5587:Sis	UTSW	3	72,821,909 (GRCm39)	missense	possibly damaging	0.94
R5725:Sis	UTSW	3	72,872,931 (GRCm39)	missense	probably damaging	1.00
R5769:Sis	UTSW	3	72,835,568 (GRCm39)	missense	probably damaging	0.98
R5790:Sis	UTSW	3	72,835,507 (GRCm39)	missense	probably benign
R5864:Sis	UTSW	3	72,857,151 (GRCm39)	missense	probably damaging	1.00
R5902:Sis	UTSW	3	72,867,589 (GRCm39)	critical splice donor site	probably null
R5925:Sis	UTSW	3	72,828,713 (GRCm39)	splice site	probably null
R6018:Sis	UTSW	3	72,820,525 (GRCm39)	missense	possibly damaging	0.95
R6029:Sis	UTSW	3	72,835,641 (GRCm39)	missense	probably benign	0.30
R6124:Sis	UTSW	3	72,860,544 (GRCm39)	missense	possibly damaging	0.69
R6171:Sis	UTSW	3	72,868,360 (GRCm39)	missense	possibly damaging	0.75
R6182:Sis	UTSW	3	72,811,626 (GRCm39)	missense	probably benign	0.05
R6295:Sis	UTSW	3	72,874,103 (GRCm39)	missense	probably damaging	0.99
R6416:Sis	UTSW	3	72,819,187 (GRCm39)	missense	probably damaging	1.00
R6431:Sis	UTSW	3	72,865,507 (GRCm39)	missense	probably benign	0.00
R6472:Sis	UTSW	3	72,846,067 (GRCm39)	nonsense	probably null
R6517:Sis	UTSW	3	72,814,475 (GRCm39)	missense	probably damaging	1.00
R6701:Sis	UTSW	3	72,856,860 (GRCm39)	missense	probably damaging	1.00
R6796:Sis	UTSW	3	72,872,951 (GRCm39)	missense	probably benign	0.06
R6853:Sis	UTSW	3	72,798,759 (GRCm39)	missense	possibly damaging	0.93
R6906:Sis	UTSW	3	72,826,818 (GRCm39)	missense	probably damaging	1.00
R7058:Sis	UTSW	3	72,810,940 (GRCm39)	missense	probably damaging	0.98
R7357:Sis	UTSW	3	72,832,404 (GRCm39)	missense	probably damaging	1.00
R7381:Sis	UTSW	3	72,820,625 (GRCm39)	splice site	probably null
R7439:Sis	UTSW	3	72,816,374 (GRCm39)	missense	possibly damaging	0.81
R7742:Sis	UTSW	3	72,832,431 (GRCm39)	missense	probably benign	0.19
R7813:Sis	UTSW	3	72,832,801 (GRCm39)	missense	probably benign	0.01
R7883:Sis	UTSW	3	72,828,329 (GRCm39)	missense	possibly damaging	0.78
R7899:Sis	UTSW	3	72,844,584 (GRCm39)	missense	probably damaging	1.00
R7915:Sis	UTSW	3	72,828,471 (GRCm39)	missense	probably damaging	0.99
R7985:Sis	UTSW	3	72,844,294 (GRCm39)	splice site	probably null
R8020:Sis	UTSW	3	72,816,298 (GRCm39)	critical splice donor site	probably null
R8023:Sis	UTSW	3	72,859,813 (GRCm39)	missense	probably damaging	0.97
R8029:Sis	UTSW	3	72,828,475 (GRCm39)	missense	probably damaging	1.00
R8053:Sis	UTSW	3	72,856,901 (GRCm39)	nonsense	probably null
R8062:Sis	UTSW	3	72,828,321 (GRCm39)	nonsense	probably null
R8074:Sis	UTSW	3	72,824,531 (GRCm39)	missense	probably damaging	1.00
R8085:Sis	UTSW	3	72,814,462 (GRCm39)	missense	probably damaging	1.00
R8137:Sis	UTSW	3	72,796,378 (GRCm39)	missense	probably benign	0.22
R8349:Sis	UTSW	3	72,810,984 (GRCm39)	missense	probably damaging	1.00
R8354:Sis	UTSW	3	72,854,834 (GRCm39)	missense	possibly damaging	0.84
R8366:Sis	UTSW	3	72,865,566 (GRCm39)	missense	probably damaging	1.00
R8449:Sis	UTSW	3	72,810,984 (GRCm39)	missense	probably damaging	1.00
R8454:Sis	UTSW	3	72,854,834 (GRCm39)	missense	possibly damaging	0.84
R8474:Sis	UTSW	3	72,836,730 (GRCm39)	missense	probably damaging	1.00
R8515:Sis	UTSW	3	72,836,742 (GRCm39)	missense	probably benign	0.00
R8680:Sis	UTSW	3	72,867,628 (GRCm39)	missense	probably damaging	1.00
R8703:Sis	UTSW	3	72,867,657 (GRCm39)	missense	probably damaging	1.00
R9098:Sis	UTSW	3	72,844,578 (GRCm39)	missense	possibly damaging	0.66
R9466:Sis	UTSW	3	72,872,910 (GRCm39)	critical splice donor site	probably null
R9574:Sis	UTSW	3	72,828,490 (GRCm39)	missense	probably benign	0.05
R9630:Sis	UTSW	3	72,828,722 (GRCm39)	missense	probably benign	0.11
R9680:Sis	UTSW	3	72,863,621 (GRCm39)	missense	probably benign	0.12
R9709:Sis	UTSW	3	72,799,074 (GRCm39)	missense	possibly damaging	0.47
R9731:Sis	UTSW	3	72,835,543 (GRCm39)	missense	probably benign	0.01
X0009:Sis	UTSW	3	72,796,355 (GRCm39)	missense	probably damaging	0.99
X0024:Sis	UTSW	3	72,836,003 (GRCm39)	missense	probably benign
X0060:Sis	UTSW	3	72,828,239 (GRCm39)	intron	probably benign
Z1176:Sis	UTSW	3	72,850,890 (GRCm39)	missense	probably benign	0.25
Z1176:Sis	UTSW	3	72,811,606 (GRCm39)	missense	probably benign	0.05
Z1177:Sis	UTSW	3	72,850,902 (GRCm39)	missense	probably damaging	1.00
Z1177:Sis	UTSW	3	72,817,807 (GRCm39)	missense	probably damaging	1.00
Z1177:Sis	UTSW	3	72,816,505 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACCCCGTCCAAACAAACAAATAAACAAAA -3'
(R):5'- GGAAGGCAGTCGAGAGCAGAGAATAATAA -3'

Sequencing Primer
(F):5'- CTGAAACACAGTAGTTAAAATCCAAG -3'
(R):5'- TGTAGGTAGATACAAAGAAGGAGC -3'

Posted On

2013-07-30