Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:Sis'

177314

Institutional Source

Beutler Lab

Gene Symbol

Sis

Ensembl Gene

ENSMUSG00000027790

Gene Name

sucrase isomaltase (alpha-glucosidase)

Synonyms

Si-s, sucrase-isomaltase

MMRRC Submission

039621-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72888557-72967863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72932060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 824 (D824E)

Ref Sequence

ENSEMBL: ENSMUSP00000129116 (fasta)

Gene Model

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

AlphaFold

F8VQM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094190
AA Change: D824E

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091742
Gene: ENSMUSG00000027790
AA Change: D824E

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

possibly damaging
Transcript: ENSMUST00000167334
AA Change: D824E

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129116
Gene: ENSMUSG00000027790
AA Change: D824E

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

0.7003

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,515,410 (GRCm38)	A71V	probably damaging	Het
Ager	A	G	17: 34,600,718 (GRCm38)	E357G	probably damaging	Het
Akap13	T	C	7: 75,729,049 (GRCm38)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 108,080,337 (GRCm38)		probably null	Het
Arrdc1	T	C	2: 24,925,795 (GRCm38)	I398V	probably benign	Het
Ash1l	T	C	3: 89,052,065 (GRCm38)	Y2250H	probably damaging	Het
BC005561	T	A	5: 104,518,257 (GRCm38)	I215N	probably damaging	Het
Brca2	G	A	5: 150,552,258 (GRCm38)	A2478T	probably damaging	Het
Btrc	T	A	19: 45,513,382 (GRCm38)		probably benign	Het
C8g	C	T	2: 25,500,216 (GRCm38)	A6T	probably benign	Het
Cdc123	T	A	2: 5,803,977 (GRCm38)		probably null	Het
Cilp	G	A	9: 65,279,715 (GRCm38)	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,777,477 (GRCm38)	G161D	probably damaging	Het
Cndp2	G	A	18: 84,677,315 (GRCm38)		probably benign	Het
Cntnap1	C	A	11: 101,180,360 (GRCm38)	F366L	probably damaging	Het
Corin	C	T	5: 72,302,790 (GRCm38)		probably null	Het
Ctdspl2	G	A	2: 122,003,929 (GRCm38)	R332K	probably benign	Het
Dido1	G	A	2: 180,662,328 (GRCm38)	P1261L	probably damaging	Het
Dopey1	A	T	9: 86,548,172 (GRCm38)	R2200*	probably null	Het
Dtx3l	G	A	16: 35,932,728 (GRCm38)	L503F	probably damaging	Het
Dysf	A	G	6: 84,067,047 (GRCm38)	K259R	probably benign	Het
Enpep	T	A	3: 129,319,448 (GRCm38)	T203S	probably damaging	Het
Epha2	T	A	4: 141,322,047 (GRCm38)		probably null	Het
Fam20b	T	C	1: 156,686,188 (GRCm38)		probably benign	Het
Fbln7	A	G	2: 128,877,429 (GRCm38)	T49A	probably benign	Het
Fgf14	T	A	14: 124,676,539 (GRCm38)	K60M	probably benign	Het
Fhad1	T	C	4: 141,985,511 (GRCm38)	I206V	probably benign	Het
Figla	A	G	6: 86,020,782 (GRCm38)	E164G	probably benign	Het
Gimap4	C	A	6: 48,691,282 (GRCm38)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm38)	T6I	probably damaging	Het
Gm6583	C	T	5: 112,354,764 (GRCm38)	G358D	probably benign	Het
Grk4	T	C	5: 34,694,750 (GRCm38)	S113P	probably benign	Het
Hectd3	G	A	4: 116,996,566 (GRCm38)	E220K	probably damaging	Het
Hecw1	A	G	13: 14,340,743 (GRCm38)		probably null	Het
Helz2	G	A	2: 181,236,297 (GRCm38)	P903S	probably damaging	Het
Hydin	T	C	8: 110,580,815 (GRCm38)	V3942A	probably benign	Het
Irs1	G	T	1: 82,289,444 (GRCm38)	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,064,054 (GRCm38)	E46K	probably damaging	Het
Klf11	A	G	12: 24,655,305 (GRCm38)	N253D	probably damaging	Het
Klhl23	T	C	2: 69,833,888 (GRCm38)	I527T	probably damaging	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,668,576 (GRCm38)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,472,542 (GRCm38)		probably null	Het
Lilra6	T	A	7: 3,912,662 (GRCm38)	D358V	probably damaging	Het
Mmrn2	A	G	14: 34,375,685 (GRCm38)	D24G	probably benign	Het
Mpp5	A	G	12: 78,829,727 (GRCm38)	I482V	probably benign	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Mrps35	C	T	6: 147,055,984 (GRCm38)	T169M	probably damaging	Het
Muc4	G	A	16: 32,753,595 (GRCm38)	G1157D	probably benign	Het
Naga	T	A	15: 82,334,788 (GRCm38)	M237L	probably null	Het
Nfu1	G	A	6: 87,020,809 (GRCm38)	E225K	probably damaging	Het
Nin	A	T	12: 70,042,669 (GRCm38)	L1324Q	probably benign	Het
Oc90	T	A	15: 65,897,720 (GRCm38)	Y96F	probably damaging	Het
Olfr1029	T	A	2: 85,975,995 (GRCm38)	F251I	probably damaging	Het
Olfr1253	C	T	2: 89,752,267 (GRCm38)	C187Y	probably damaging	Het
Olfr1471	T	C	19: 13,445,659 (GRCm38)	Y216H	probably damaging	Het
Olfr25	G	A	9: 38,330,131 (GRCm38)	M181I	possibly damaging	Het
Olfr522	A	G	7: 140,162,203 (GRCm38)	V249A	probably damaging	Het
Orc4	A	T	2: 48,909,494 (GRCm38)	C324S	possibly damaging	Het
Pdzrn4	T	C	15: 92,770,537 (GRCm38)	S857P	probably benign	Het
Plec	C	T	15: 76,185,908 (GRCm38)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,508,481 (GRCm38)	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772 (GRCm38)	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,684 (GRCm38)	Y480H	probably benign	Het
Prkd1	A	T	12: 50,425,515 (GRCm38)	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,476,690 (GRCm38)	I434V	probably benign	Het
Rel	T	A	11: 23,745,546 (GRCm38)	T246S	probably damaging	Het
Rnf215	T	A	11: 4,136,719 (GRCm38)	V172E	probably damaging	Het
Scara3	T	C	14: 65,921,104 (GRCm38)	D485G	probably damaging	Het
Sec16a	A	T	2: 26,431,157 (GRCm38)	Y1308N	probably damaging	Het
Slc27a4	T	A	2: 29,811,190 (GRCm38)	V331E	probably damaging	Het
Srebf1	C	T	11: 60,200,702 (GRCm38)	R999H	probably benign	Het
St3gal3	A	C	4: 118,107,662 (GRCm38)	M1R	probably null	Het
Tapbp	C	T	17: 33,919,940 (GRCm38)		probably null	Het
Tep1	A	T	14: 50,866,037 (GRCm38)	N265K	probably damaging	Het
Tln2	T	A	9: 67,296,414 (GRCm38)	N470I	probably damaging	Het
Trim43a	G	T	9: 88,588,158 (GRCm38)	W339L	probably damaging	Het
Ttc22	T	C	4: 106,622,780 (GRCm38)	F77S	probably damaging	Het
Ttc8	A	G	12: 98,920,764 (GRCm38)	E32G	probably benign	Het
Uhmk1	A	T	1: 170,208,653 (GRCm38)		probably null	Het
Usp17lc	A	G	7: 103,418,941 (GRCm38)	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,385,634 (GRCm38)	T35M	probably damaging	Het
Vill	A	G	9: 119,065,586 (GRCm38)	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,232,762 (GRCm38)	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,305,151 (GRCm38)	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,893,112 (GRCm38)	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,650,081 (GRCm38)	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,768,165 (GRCm38)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,238,895 (GRCm38)	T140I	probably damaging	Het
Ykt6	T	A	11: 5,962,349 (GRCm38)	F101I	probably damaging	Het
Zfp277	C	T	12: 40,378,826 (GRCm38)	G174D	probably benign	Het
Zfp638	A	G	6: 83,978,065 (GRCm38)		probably null	Het
Zzef1	C	T	11: 72,924,679 (GRCm38)	P2942S	probably damaging	Het

Other mutations in Sis

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Sis	APN	3	72,946,636 (GRCm38)	missense	probably benign
IGL00715:Sis	APN	3	72,934,124 (GRCm38)	missense	probably damaging	1.00
IGL00721:Sis	APN	3	72,943,579 (GRCm38)	missense	probably damaging	1.00
IGL00766:Sis	APN	3	72,907,237 (GRCm38)	splice site	probably benign
IGL00783:Sis	APN	3	72,946,632 (GRCm38)	missense	probably benign
IGL00805:Sis	APN	3	72,934,199 (GRCm38)	missense	probably benign	0.05
IGL00932:Sis	APN	3	72,940,956 (GRCm38)	splice site	probably benign
IGL01020:Sis	APN	3	72,966,838 (GRCm38)	missense	probably damaging	1.00
IGL01024:Sis	APN	3	72,911,876 (GRCm38)	missense	probably damaging	1.00
IGL01286:Sis	APN	3	72,941,025 (GRCm38)	missense	probably damaging	1.00
IGL01457:Sis	APN	3	72,961,021 (GRCm38)	missense	probably benign
IGL01514:Sis	APN	3	72,935,920 (GRCm38)	splice site	probably benign
IGL01986:Sis	APN	3	72,945,212 (GRCm38)	missense	probably damaging	1.00
IGL02110:Sis	APN	3	72,928,699 (GRCm38)	nonsense	probably null
IGL02132:Sis	APN	3	72,947,471 (GRCm38)	missense	probably benign	0.00
IGL02152:Sis	APN	3	72,888,986 (GRCm38)	utr 3 prime	probably benign
IGL02200:Sis	APN	3	72,943,604 (GRCm38)	missense	probably damaging	0.99
IGL02244:Sis	APN	3	72,956,190 (GRCm38)	missense	probably benign	0.19
IGL02307:Sis	APN	3	72,911,834 (GRCm38)	splice site	probably benign
IGL02374:Sis	APN	3	72,925,456 (GRCm38)	missense	probably benign	0.03
IGL02437:Sis	APN	3	72,919,614 (GRCm38)	critical splice acceptor site	probably null
IGL02571:Sis	APN	3	72,956,304 (GRCm38)	splice site	probably benign
IGL02601:Sis	APN	3	72,913,210 (GRCm38)	missense	probably benign	0.44
IGL03063:Sis	APN	3	72,928,297 (GRCm38)	missense	probably benign
IGL03382:Sis	APN	3	72,928,719 (GRCm38)	missense	probably benign	0.00
IGL03397:Sis	APN	3	72,935,879 (GRCm38)	missense	probably benign	0.44
PIT1430001:Sis	UTSW	3	72,922,829 (GRCm38)	missense	probably damaging	0.97
R0013:Sis	UTSW	3	72,910,476 (GRCm38)	missense	possibly damaging	0.65
R0013:Sis	UTSW	3	72,910,476 (GRCm38)	missense	possibly damaging	0.65
R0046:Sis	UTSW	3	72,932,094 (GRCm38)	missense	probably benign	0.01
R0094:Sis	UTSW	3	72,921,437 (GRCm38)	missense	probably damaging	1.00
R0096:Sis	UTSW	3	72,928,267 (GRCm38)	missense	probably damaging	1.00
R0505:Sis	UTSW	3	72,960,296 (GRCm38)	missense	probably benign	0.29
R0544:Sis	UTSW	3	72,951,642 (GRCm38)	missense	probably damaging	1.00
R0551:Sis	UTSW	3	72,925,407 (GRCm38)	missense	possibly damaging	0.79
R0617:Sis	UTSW	3	72,965,605 (GRCm38)	missense	probably damaging	1.00
R0698:Sis	UTSW	3	72,910,498 (GRCm38)	missense	probably damaging	1.00
R0701:Sis	UTSW	3	72,941,045 (GRCm38)	missense	probably damaging	1.00
R0704:Sis	UTSW	3	72,949,822 (GRCm38)	missense	possibly damaging	0.63
R0706:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0710:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0752:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0753:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0754:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0767:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0769:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0772:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0774:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0776:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0818:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0819:Sis	UTSW	3	72,952,531 (GRCm38)	missense	probably damaging	1.00
R0885:Sis	UTSW	3	72,911,949 (GRCm38)	nonsense	probably null
R1076:Sis	UTSW	3	72,934,098 (GRCm38)	missense	probably damaging	0.97
R1140:Sis	UTSW	3	72,951,616 (GRCm38)	missense	probably damaging	0.98
R1175:Sis	UTSW	3	72,958,104 (GRCm38)	splice site	probably benign
R1301:Sis	UTSW	3	72,946,582 (GRCm38)	missense	possibly damaging	0.76
R1437:Sis	UTSW	3	72,934,142 (GRCm38)	missense	probably damaging	1.00
R1466:Sis	UTSW	3	72,932,060 (GRCm38)	missense	possibly damaging	0.60
R1466:Sis	UTSW	3	72,932,060 (GRCm38)	missense	possibly damaging	0.60
R1472:Sis	UTSW	3	72,889,027 (GRCm38)	missense	probably benign	0.12
R1707:Sis	UTSW	3	72,909,087 (GRCm38)	splice site	probably benign
R1715:Sis	UTSW	3	72,889,010 (GRCm38)	missense	possibly damaging	0.47
R1719:Sis	UTSW	3	72,965,604 (GRCm38)	missense	probably damaging	1.00
R1728:Sis	UTSW	3	72,965,645 (GRCm38)	nonsense	probably null
R1784:Sis	UTSW	3	72,965,645 (GRCm38)	nonsense	probably null
R1820:Sis	UTSW	3	72,921,142 (GRCm38)	missense	probably damaging	1.00
R1972:Sis	UTSW	3	72,921,004 (GRCm38)	missense	probably damaging	1.00
R1973:Sis	UTSW	3	72,921,004 (GRCm38)	missense	probably damaging	1.00
R2054:Sis	UTSW	3	72,913,237 (GRCm38)	missense	probably benign	0.01
R2233:Sis	UTSW	3	72,913,194 (GRCm38)	missense	probably benign	0.03
R2235:Sis	UTSW	3	72,913,194 (GRCm38)	missense	probably benign	0.03
R2276:Sis	UTSW	3	72,914,601 (GRCm38)	nonsense	probably null
R2435:Sis	UTSW	3	72,911,904 (GRCm38)	missense	probably benign	0.01
R2885:Sis	UTSW	3	72,909,173 (GRCm38)	missense	probably benign	0.01
R2966:Sis	UTSW	3	72,889,010 (GRCm38)	missense	probably benign	0.30
R3708:Sis	UTSW	3	72,943,523 (GRCm38)	missense	probably benign	0.02
R3790:Sis	UTSW	3	72,921,414 (GRCm38)	missense	probably damaging	1.00
R3807:Sis	UTSW	3	72,925,596 (GRCm38)	missense	probably benign	0.01
R3858:Sis	UTSW	3	72,928,652 (GRCm38)	missense	probably damaging	0.99
R3974:Sis	UTSW	3	72,943,635 (GRCm38)	missense	probably damaging	0.96
R3975:Sis	UTSW	3	72,943,635 (GRCm38)	missense	probably damaging	0.96
R4037:Sis	UTSW	3	72,928,602 (GRCm38)	missense	probably benign
R4080:Sis	UTSW	3	72,921,184 (GRCm38)	missense	probably damaging	1.00
R4204:Sis	UTSW	3	72,961,082 (GRCm38)	missense	probably benign
R4394:Sis	UTSW	3	72,956,149 (GRCm38)	missense	probably damaging	1.00
R4470:Sis	UTSW	3	72,928,159 (GRCm38)	splice site	probably null
R4573:Sis	UTSW	3	72,928,237 (GRCm38)	missense	possibly damaging	0.94
R4868:Sis	UTSW	3	72,943,548 (GRCm38)	missense	probably benign	0.09
R5023:Sis	UTSW	3	72,934,122 (GRCm38)	missense	probably benign	0.05
R5264:Sis	UTSW	3	72,949,756 (GRCm38)	missense	probably damaging	0.98
R5414:Sis	UTSW	3	72,952,493 (GRCm38)	missense	probably benign
R5462:Sis	UTSW	3	72,949,838 (GRCm38)	missense	probably damaging	0.96
R5523:Sis	UTSW	3	72,891,421 (GRCm38)	missense	probably benign	0.00
R5584:Sis	UTSW	3	72,910,415 (GRCm38)	missense	probably damaging	1.00
R5587:Sis	UTSW	3	72,914,576 (GRCm38)	missense	possibly damaging	0.94
R5725:Sis	UTSW	3	72,965,598 (GRCm38)	missense	probably damaging	1.00
R5769:Sis	UTSW	3	72,928,235 (GRCm38)	missense	probably damaging	0.98
R5790:Sis	UTSW	3	72,928,174 (GRCm38)	missense	probably benign
R5864:Sis	UTSW	3	72,949,818 (GRCm38)	missense	probably damaging	1.00
R5902:Sis	UTSW	3	72,960,256 (GRCm38)	critical splice donor site	probably null
R5925:Sis	UTSW	3	72,921,380 (GRCm38)	splice site	probably null
R6018:Sis	UTSW	3	72,913,192 (GRCm38)	missense	possibly damaging	0.95
R6029:Sis	UTSW	3	72,928,308 (GRCm38)	missense	probably benign	0.30
R6124:Sis	UTSW	3	72,953,211 (GRCm38)	missense	possibly damaging	0.69
R6171:Sis	UTSW	3	72,961,027 (GRCm38)	missense	possibly damaging	0.75
R6182:Sis	UTSW	3	72,904,293 (GRCm38)	missense	probably benign	0.05
R6295:Sis	UTSW	3	72,966,770 (GRCm38)	missense	probably damaging	0.99
R6416:Sis	UTSW	3	72,911,854 (GRCm38)	missense	probably damaging	1.00
R6431:Sis	UTSW	3	72,958,174 (GRCm38)	missense	probably benign	0.00
R6472:Sis	UTSW	3	72,938,734 (GRCm38)	nonsense	probably null
R6517:Sis	UTSW	3	72,907,142 (GRCm38)	missense	probably damaging	1.00
R6701:Sis	UTSW	3	72,949,527 (GRCm38)	missense	probably damaging	1.00
R6796:Sis	UTSW	3	72,965,618 (GRCm38)	missense	probably benign	0.06
R6853:Sis	UTSW	3	72,891,426 (GRCm38)	missense	possibly damaging	0.93
R6906:Sis	UTSW	3	72,919,485 (GRCm38)	missense	probably damaging	1.00
R7058:Sis	UTSW	3	72,903,607 (GRCm38)	missense	probably damaging	0.98
R7357:Sis	UTSW	3	72,925,071 (GRCm38)	missense	probably damaging	1.00
R7381:Sis	UTSW	3	72,913,292 (GRCm38)	splice site	probably null
R7439:Sis	UTSW	3	72,909,041 (GRCm38)	missense	possibly damaging	0.81
R7742:Sis	UTSW	3	72,925,098 (GRCm38)	missense	probably benign	0.19
R7813:Sis	UTSW	3	72,925,468 (GRCm38)	missense	probably benign	0.01
R7883:Sis	UTSW	3	72,920,996 (GRCm38)	missense	possibly damaging	0.78
R7899:Sis	UTSW	3	72,937,251 (GRCm38)	missense	probably damaging	1.00
R7915:Sis	UTSW	3	72,921,138 (GRCm38)	missense	probably damaging	0.99
R7985:Sis	UTSW	3	72,936,961 (GRCm38)	splice site	probably null
R8020:Sis	UTSW	3	72,908,965 (GRCm38)	critical splice donor site	probably null
R8023:Sis	UTSW	3	72,952,480 (GRCm38)	missense	probably damaging	0.97
R8029:Sis	UTSW	3	72,921,142 (GRCm38)	missense	probably damaging	1.00
R8053:Sis	UTSW	3	72,949,568 (GRCm38)	nonsense	probably null
R8062:Sis	UTSW	3	72,920,988 (GRCm38)	nonsense	probably null
R8074:Sis	UTSW	3	72,917,198 (GRCm38)	missense	probably damaging	1.00
R8085:Sis	UTSW	3	72,907,129 (GRCm38)	missense	probably damaging	1.00
R8137:Sis	UTSW	3	72,889,045 (GRCm38)	missense	probably benign	0.22
R8349:Sis	UTSW	3	72,903,651 (GRCm38)	missense	probably damaging	1.00
R8354:Sis	UTSW	3	72,947,501 (GRCm38)	missense	possibly damaging	0.84
R8366:Sis	UTSW	3	72,958,233 (GRCm38)	missense	probably damaging	1.00
R8449:Sis	UTSW	3	72,903,651 (GRCm38)	missense	probably damaging	1.00
R8454:Sis	UTSW	3	72,947,501 (GRCm38)	missense	possibly damaging	0.84
R8474:Sis	UTSW	3	72,929,397 (GRCm38)	missense	probably damaging	1.00
R8515:Sis	UTSW	3	72,929,409 (GRCm38)	missense	probably benign	0.00
R8680:Sis	UTSW	3	72,960,295 (GRCm38)	missense	probably damaging	1.00
R8703:Sis	UTSW	3	72,960,324 (GRCm38)	missense	probably damaging	1.00
R9098:Sis	UTSW	3	72,937,245 (GRCm38)	missense	possibly damaging	0.66
R9466:Sis	UTSW	3	72,965,577 (GRCm38)	critical splice donor site	probably null
R9574:Sis	UTSW	3	72,921,157 (GRCm38)	missense	probably benign	0.05
R9630:Sis	UTSW	3	72,921,389 (GRCm38)	missense	probably benign	0.11
R9680:Sis	UTSW	3	72,956,288 (GRCm38)	missense	probably benign	0.12
R9709:Sis	UTSW	3	72,891,741 (GRCm38)	missense	possibly damaging	0.47
R9731:Sis	UTSW	3	72,928,210 (GRCm38)	missense	probably benign	0.01
X0009:Sis	UTSW	3	72,889,022 (GRCm38)	missense	probably damaging	0.99
X0024:Sis	UTSW	3	72,928,670 (GRCm38)	missense	probably benign
X0060:Sis	UTSW	3	72,920,906 (GRCm38)	intron	probably benign
Z1176:Sis	UTSW	3	72,943,557 (GRCm38)	missense	probably benign	0.25
Z1176:Sis	UTSW	3	72,904,273 (GRCm38)	missense	probably benign	0.05
Z1177:Sis	UTSW	3	72,943,569 (GRCm38)	missense	probably damaging	1.00
Z1177:Sis	UTSW	3	72,910,474 (GRCm38)	missense	probably damaging	1.00
Z1177:Sis	UTSW	3	72,909,172 (GRCm38)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGTCAGCTATTTCACAACATACCATTCACAA -3'
(R):5'- gcACTCCAAGCCAgacattcttca -3'

Sequencing Primer
(F):5'- ACCATTATGAATGGAAC -3'
(R):5'- aggaagtggtagtgggtgg -3'

Posted On

2014-04-24