Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Sis'

376299

Institutional Source

Beutler Lab

Gene Symbol

Sis

Ensembl Gene

ENSMUSG00000027790

Gene Name

sucrase isomaltase

Synonyms

2010204N08Rik, Si-s, sucrase-isomaltase

MMRRC Submission

042478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72795890-72875196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72850881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 606 (I606L)

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: I606L

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000091742
Gene: ENSMUSG00000027790
AA Change: I606L

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 benign
Transcript: ENSMUST00000167334
AA Change: I606L

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129116
Gene: ENSMUSG00000027790
AA Change: I606L

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

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,729 (GRCm39)	*299W	probably null	Het
4933412E24Rik	G	A	15: 59,887,817 (GRCm39)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,865,338 (GRCm39)	A373V	probably benign	Het
Actn3	A	T	19: 4,914,482 (GRCm39)	W549R	probably benign	Het
Adamts4	C	T	1: 171,080,000 (GRCm39)		probably benign	Het
Adcy4	T	C	14: 56,011,179 (GRCm39)	I615V	probably benign	Het
Akap1	A	G	11: 88,735,379 (GRCm39)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,393,252 (GRCm39)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,507,943 (GRCm39)	S151G	possibly damaging	Het
Aoah	T	A	13: 21,099,151 (GRCm39)	Y243*	probably null	Het
Asap1	A	G	15: 63,966,030 (GRCm39)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,684,937 (GRCm39)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,755,226 (GRCm39)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,909,615 (GRCm39)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,678,743 (GRCm39)		probably null	Het
Casp3	A	T	8: 47,087,314 (GRCm39)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,612,569 (GRCm39)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 44,924,776 (GRCm39)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,321,901 (GRCm39)	F55L	probably benign	Het
Cmah	T	A	13: 24,648,247 (GRCm39)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,230,882 (GRCm39)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,417,726 (GRCm39)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,823,879 (GRCm39)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,085,754 (GRCm39)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,559,230 (GRCm39)		probably benign	Het
Dhx34	T	C	7: 15,933,727 (GRCm39)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,155,941 (GRCm39)	M541V	probably benign	Het
Dnah17	A	T	11: 117,999,038 (GRCm39)	S912T	probably benign	Het
Dnah2	A	T	11: 69,354,474 (GRCm39)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,156,675 (GRCm39)	W1502R	probably damaging	Het
Dzip1	A	T	14: 119,114,626 (GRCm39)	V843E	probably damaging	Het
Esp23	G	T	17: 39,384,915 (GRCm39)	T27K	probably benign	Het
Esp3	A	T	17: 40,944,420 (GRCm39)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,123,108 (GRCm39)	T71S	probably benign	Het
Fpgs	G	A	2: 32,582,673 (GRCm39)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,859,811 (GRCm39)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,645,203 (GRCm39)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,582,205 (GRCm39)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,320,205 (GRCm39)	V246I	probably damaging	Het
Krt75	C	T	15: 101,476,556 (GRCm39)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,520,040 (GRCm39)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,412,075 (GRCm39)	V114L	probably damaging	Het
Maml3	C	A	3: 52,011,345 (GRCm39)	E74*	probably null	Het
Map2k7	G	A	8: 4,297,751 (GRCm39)		probably benign	Het
Mapk8ip3	A	G	17: 25,120,389 (GRCm39)	V883A	probably benign	Het
Mbtps1	C	T	8: 120,235,667 (GRCm39)	V1004I	probably benign	Het
Metap1	G	T	3: 138,188,850 (GRCm39)	H48Q	probably damaging	Het
Mical2	T	A	7: 111,917,831 (GRCm39)	V396E	probably damaging	Het
Mks1	T	A	11: 87,744,549 (GRCm39)		probably benign	Het
Ndst1	T	C	18: 60,828,548 (GRCm39)	T669A	probably benign	Het
Obox3	T	C	7: 15,361,235 (GRCm39)	K10R	probably damaging	Het
Opn3	T	C	1: 175,491,127 (GRCm39)	Y302C	probably damaging	Het
Or4f62	T	A	2: 111,986,916 (GRCm39)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,570,974 (GRCm39)	M192I	probably benign	Het
Or9g8	T	G	2: 85,606,970 (GRCm39)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 59,281,751 (GRCm39)	V177D	probably benign	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,953,851 (GRCm39)	Y366*	probably null	Het
Prr14l	A	T	5: 32,987,281 (GRCm39)	M738K	probably benign	Het
Prx	T	C	7: 27,217,004 (GRCm39)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,721,883 (GRCm39)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,358,883 (GRCm39)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,878,124 (GRCm39)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,093,642 (GRCm39)	S259T	probably damaging	Het
Sike1	A	G	3: 102,904,730 (GRCm39)		probably null	Het
Slc30a9	T	C	5: 67,482,026 (GRCm39)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,014,065 (GRCm39)	I424T	probably damaging	Het
Spx	C	T	6: 142,362,116 (GRCm39)	R72*	probably null	Het
St7	C	A	6: 17,819,265 (GRCm39)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,948,270 (GRCm39)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,213,393 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,108,955 (GRCm39)	D258G	probably benign	Het
Timeless	G	T	10: 128,083,230 (GRCm39)	G659V	probably benign	Het
Tnn	T	C	1: 159,958,443 (GRCm39)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,846,589 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,194,709 (GRCm39)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,615,221 (GRCm39)	I389N	probably damaging	Het
Tut4	T	C	4: 108,406,417 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,536,488 (GRCm39)	V216A	probably benign	Het
Vezf1	T	A	11: 87,965,520 (GRCm39)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 20,867,227 (GRCm39)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,204,161 (GRCm39)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,484,480 (GRCm39)	I442F	probably benign	Het
Vwa8	C	A	14: 79,420,522 (GRCm39)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,704,668 (GRCm39)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,287,074 (GRCm39)	Q372P	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
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
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'- CGTCCAACTACTATAGGTGCAAG -3'
(R):5'- GTTTCTCAGCTATGCTAATTACCAG -3'

Sequencing Primer
(F):5'- CCAACTACTATAGGTGCAAGTTATTC -3'
(R):5'- TTCCTTGTGTCATTGAAAAGACC -3'

Posted On

2016-03-17