Incidental Mutation 'R2435:Sis'
ID 249533
Institutional Source Beutler Lab
Gene Symbol Sis
Ensembl Gene ENSMUSG00000027790
Gene Name sucrase isomaltase
Synonyms 2010204N08Rik, Si-s, sucrase-isomaltase
MMRRC Submission 040396-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2435 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 72795890-72875196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72819237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1440 (S1440P)
Ref Sequence ENSEMBL: ENSMUSP00000129116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094190] [ENSMUST00000167334]
AlphaFold F8VQM5
Predicted Effect probably benign
Transcript: ENSMUST00000094190
AA Change: S1440P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000091742
Gene: ENSMUSG00000027790
AA Change: S1440P

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000167334
AA Change: S1440P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000129116
Gene: ENSMUSG00000027790
AA Change: S1440P

DomainStartEndE-ValueType
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: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,898,294 (GRCm39) T226I probably benign Het
Acvr1 T C 2: 58,369,704 (GRCm39) N102D probably damaging Het
Cd34 T A 1: 194,621,334 (GRCm39) C21S probably damaging Het
Cdh18 C T 15: 23,367,094 (GRCm39) R267W probably damaging Het
Ckap5 T A 2: 91,411,490 (GRCm39) N966K probably benign Het
Clec4e A G 6: 123,265,855 (GRCm39) V44A probably damaging Het
Cubn T A 2: 13,323,083 (GRCm39) N2828I probably damaging Het
Dnah10 G T 5: 124,839,929 (GRCm39) probably null Het
Fshr A T 17: 89,508,024 (GRCm39) V6D unknown Het
Gcc2 A G 10: 58,130,602 (GRCm39) D1398G probably damaging Het
Gpi1 G A 7: 33,905,254 (GRCm39) A390V probably damaging Het
Gypa G T 8: 81,233,397 (GRCm39) probably null Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Ifna13 T A 4: 88,562,366 (GRCm39) Q86L probably damaging Het
Itgae T A 11: 73,012,763 (GRCm39) C698* probably null Het
Ivns1abp T C 1: 151,239,061 (GRCm39) V625A probably benign Het
Kcnh2 A G 5: 24,531,345 (GRCm39) probably null Het
Kcnj6 G A 16: 94,563,538 (GRCm39) T320M probably damaging Het
Mblac2 T C 13: 81,898,368 (GRCm39) I248T probably damaging Het
Muc5ac A T 7: 141,371,841 (GRCm39) Y2647F possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or4k15 T C 14: 50,364,211 (GRCm39) M59T probably damaging Het
Or6c217 G T 10: 129,738,173 (GRCm39) N135K possibly damaging Het
Pard3b T A 1: 62,626,897 (GRCm39) V1059E probably damaging Het
Pkd1l3 A C 8: 110,377,334 (GRCm39) I1585L probably benign Het
Pramel31 A T 4: 144,089,473 (GRCm39) I264F possibly damaging Het
Prrc2b A T 2: 32,109,741 (GRCm39) S1791C probably damaging Het
Rbmxl2 C A 7: 106,809,538 (GRCm39) S274R probably damaging Het
Serpini2 T C 3: 75,165,475 (GRCm39) E168G probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Snrnp40 A G 4: 130,278,344 (GRCm39) H283R probably damaging Het
Tcaf2 G T 6: 42,607,298 (GRCm39) Q219K possibly damaging Het
Tenm3 C T 8: 48,740,988 (GRCm39) R803H probably damaging Het
Ugt2b5 T C 5: 87,287,465 (GRCm39) D234G probably damaging Het
Unc13d A G 11: 115,959,514 (GRCm39) F653S probably damaging Het
Unc93b1 A G 19: 3,986,373 (GRCm39) I136V possibly damaging Het
Utp20 A G 10: 88,656,753 (GRCm39) S151P possibly damaging Het
Vmn2r50 C A 7: 9,787,026 (GRCm39) W27L probably benign Het
Zan T C 5: 137,436,836 (GRCm39) S2006G unknown Het
Other mutations in Sis
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGACATGGAAAGAAACTCCTCAAG -3'
(R):5'- CCGCGTTCATTAGTATCCAGC -3'

Sequencing Primer
(F):5'- CAAGATTCTTGAAGTATTGAAGCTTG -3'
(R):5'- CGTTCATTAGTATCCAGCTATTCATG -3'
Posted On 2014-11-12