Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02200:Sis'

284148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sis

Ensembl Gene

ENSMUSG00000027790

Gene Name

sucrase isomaltase

Synonyms

2010204N08Rik, Si-s, sucrase-isomaltase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02200

Quality Score

Status

Chromosome

Chromosomal Location

72795890-72875196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72850937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 587 (H587R)

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: H587R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091742
Gene: ENSMUSG00000027790
AA Change: H587R

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: H587R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129116
Gene: ENSMUSG00000027790
AA Change: H587R

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,663 (GRCm39)	E207G	probably benign	Het
Ahi1	T	C	10: 20,857,213 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,536,302 (GRCm39)	V97E	probably damaging	Het
Cadps2	T	C	6: 23,385,527 (GRCm39)	Y736C	probably damaging	Het
Cdon	T	C	9: 35,394,405 (GRCm39)	W884R	probably benign	Het
Cflar	A	G	1: 58,791,828 (GRCm39)	D380G	probably damaging	Het
Clca3a1	A	T	3: 144,457,690 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,547,190 (GRCm39)	S316P	probably damaging	Het
Crispld1	T	C	1: 17,820,557 (GRCm39)		probably benign	Het
Diaph1	G	A	18: 38,023,735 (GRCm39)	P701L	unknown	Het
Dip2b	T	C	15: 100,049,083 (GRCm39)	L159P	possibly damaging	Het
Dock1	A	G	7: 134,346,000 (GRCm39)	T181A	probably benign	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Gm2663	A	G	6: 40,972,947 (GRCm39)	V220A	probably benign	Het
Gpi-ps	A	G	8: 5,689,968 (GRCm39)		noncoding transcript	Het
Grik1	A	G	16: 87,737,453 (GRCm39)	F614L	probably damaging	Het
Htr2a	T	A	14: 74,943,605 (GRCm39)	I395N	probably damaging	Het
Itsn2	A	G	12: 4,686,632 (GRCm39)	D528G	probably damaging	Het
Kdr	T	C	5: 76,110,762 (GRCm39)		probably benign	Het
M6pr	A	G	6: 122,292,027 (GRCm39)	M120V	probably benign	Het
Mettl13	G	A	1: 162,366,392 (GRCm39)		probably benign	Het
Mtfmt	A	G	9: 65,356,063 (GRCm39)		probably benign	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Ogfrl1	C	T	1: 23,409,150 (GRCm39)	V359I	probably benign	Het
Or51f1d	C	T	7: 102,701,000 (GRCm39)	T165I	probably benign	Het
Ovch2	T	C	7: 107,394,030 (GRCm39)	Y141C	probably damaging	Het
Pwwp2a	A	C	11: 43,596,955 (GRCm39)	I432L	possibly damaging	Het
Ryr3	C	T	2: 112,679,855 (GRCm39)	V1245M	probably damaging	Het
Snrnp40	A	G	4: 130,254,014 (GRCm39)	K6E	probably damaging	Het
Snx13	A	T	12: 35,136,884 (GRCm39)	D115V	probably damaging	Het
Sohlh2	C	A	3: 55,097,977 (GRCm39)	T143K	probably damaging	Het
Spag4	T	C	2: 155,908,517 (GRCm39)	L55S	probably benign	Het
Trgc2	T	C	13: 19,491,521 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,451,187 (GRCm39)	S358P	probably benign	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
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
R0701:Sis	UTSW	3	72,848,378 (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

Posted On

2015-04-16