Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Sis'

166016

Institutional Source

Beutler Lab

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 #

R1466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72795890-72875196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72839393 bp (GRCm39)

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: 99.4%
3x: 97.9%
10x: 90.8%
20x: 71.5%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,406,236 (GRCm39)	A71V	probably damaging	Het
Adamts12	T	C	15: 11,311,445 (GRCm39)	F1234S	probably benign	Het
Ahnak	A	G	19: 8,993,239 (GRCm39)	D4841G	probably damaging	Het
Akap13	T	C	7: 75,378,797 (GRCm39)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 107,987,653 (GRCm39)		probably null	Het
Arhgef17	G	T	7: 100,578,866 (GRCm39)	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,815,807 (GRCm39)	I398V	probably benign	Het
Ash1l	T	C	3: 88,959,372 (GRCm39)	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,088,286 (GRCm39)	N385D	probably benign	Het
Atxn3	G	A	12: 101,892,758 (GRCm39)	R319C	possibly damaging	Het
Brca2	G	A	5: 150,475,723 (GRCm39)	A2478T	probably damaging	Het
C1s1	C	T	6: 124,508,090 (GRCm39)	C633Y	probably damaging	Het
C8g	C	T	2: 25,390,228 (GRCm39)	A6T	probably benign	Het
Cbl	A	T	9: 44,065,541 (GRCm39)	V706E	probably benign	Het
Ccdc121rt3	C	T	5: 112,502,630 (GRCm39)	G358D	probably benign	Het
Cfhr1	C	T	1: 139,485,312 (GRCm39)	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561 (GRCm39)		probably null	Het
Chek1	G	T	9: 36,637,153 (GRCm39)	A2E	probably damaging	Het
Cntnap1	C	A	11: 101,071,186 (GRCm39)	F366L	probably damaging	Het
Corin	C	T	5: 72,460,133 (GRCm39)		probably null	Het
Crb2	T	C	2: 37,673,400 (GRCm39)	Y99H	probably damaging	Het
Ctdspl2	G	A	2: 121,834,410 (GRCm39)	R332K	probably benign	Het
Cym	G	A	3: 107,120,774 (GRCm39)	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,275,936 (GRCm39)	C215Y	probably benign	Het
Dido1	G	A	2: 180,304,121 (GRCm39)	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,840,160 (GRCm39)	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,753,098 (GRCm39)	L503F	probably damaging	Het
Efhb	A	G	17: 53,744,206 (GRCm39)	F462L	probably damaging	Het
Enpep	T	A	3: 129,113,097 (GRCm39)	T203S	probably damaging	Het
Fat3	A	C	9: 16,286,778 (GRCm39)	V915G	probably damaging	Het
Fbln7	A	G	2: 128,719,349 (GRCm39)	T49A	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgf14	T	A	14: 124,913,951 (GRCm39)	K60M	probably benign	Het
Galnt4	A	G	10: 98,944,571 (GRCm39)	R99G	probably benign	Het
Gimap4	C	A	6: 48,668,216 (GRCm39)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm39)	T6I	probably damaging	Het
Gm10110	A	T	14: 90,135,511 (GRCm39)		noncoding transcript	Het
Gm4884	A	G	7: 40,692,552 (GRCm39)	K174E	probably damaging	Het
Grip2	A	T	6: 91,765,424 (GRCm39)	D19E	probably damaging	Het
Grk4	T	C	5: 34,852,094 (GRCm39)	S113P	probably benign	Het
Hectd3	G	A	4: 116,853,763 (GRCm39)	E220K	probably damaging	Het
Helz2	G	A	2: 180,878,090 (GRCm39)	P903S	probably damaging	Het
Hydin	T	A	8: 111,259,585 (GRCm39)	V2519E	possibly damaging	Het
Ints11	G	A	4: 155,972,567 (GRCm39)		probably null	Het
Kif1a	A	G	1: 92,982,651 (GRCm39)	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,307,709 (GRCm39)	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,927,999 (GRCm39)	V1047D	probably benign	Het
Klhl23	T	C	2: 69,664,232 (GRCm39)	I527T	probably damaging	Het
Klra10	T	A	6: 130,256,278 (GRCm39)	R125S	probably damaging	Het
Klra10	T	C	6: 130,256,394 (GRCm39)	N87D	probably damaging	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,558,588 (GRCm39)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,370,423 (GRCm39)		probably null	Het
Map4k2	G	T	19: 6,391,947 (GRCm39)	W87L	probably damaging	Het
Mccc1	A	G	3: 36,028,435 (GRCm39)	V457A	probably benign	Het
Mdn1	T	A	4: 32,730,788 (GRCm39)	S2886T	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,829,235 (GRCm39)	Y21*	probably null	Het
Mrps35	C	T	6: 146,957,482 (GRCm39)	T169M	probably damaging	Het
Mtcl1	T	A	17: 66,687,430 (GRCm39)	D492V	probably damaging	Het
Muc2	A	G	7: 141,302,711 (GRCm39)	Y457C	probably damaging	Het
Muc4	G	A	16: 32,574,886 (GRCm39)	G1157D	probably benign	Het
Myg1	T	A	15: 102,245,825 (GRCm39)	L275Q	probably damaging	Het
Naga	T	A	15: 82,218,989 (GRCm39)	M237L	probably null	Het
Oc90	T	A	15: 65,769,569 (GRCm39)	Y96F	probably damaging	Het
Or12d13	A	T	17: 37,647,847 (GRCm39)	L92H	probably benign	Het
Or13a18	A	G	7: 140,190,882 (GRCm39)	I268V	probably benign	Het
Or4a80	C	T	2: 89,582,611 (GRCm39)	C187Y	probably damaging	Het
Or5m11b	T	A	2: 85,806,339 (GRCm39)	F251I	probably damaging	Het
Or6ae1	A	G	7: 139,742,116 (GRCm39)	V249A	probably damaging	Het
Orc4	A	T	2: 48,799,506 (GRCm39)	C324S	possibly damaging	Het
Pcdh10	T	G	3: 45,334,409 (GRCm39)	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,668,418 (GRCm39)	S857P	probably benign	Het
Plec	C	T	15: 76,070,108 (GRCm39)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,961,125 (GRCm39)	V149D	probably benign	Het
Ppef1	C	A	X: 159,408,670 (GRCm39)		probably null	Het
Prkaa1	C	A	15: 5,208,279 (GRCm39)	P507T	probably benign	Het
Ptch1	A	G	13: 63,672,783 (GRCm39)	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,312,559 (GRCm39)	I434V	probably benign	Het
Rfx5	T	A	3: 94,863,614 (GRCm39)	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,400,296 (GRCm39)	K126*	probably null	Het
Rpl3l	A	G	17: 24,949,845 (GRCm39)	I15V	probably benign	Het
Saal1	G	T	7: 46,351,969 (GRCm39)		probably null	Het
Sbpl	A	C	17: 24,172,228 (GRCm39)	D230E	unknown	Het
Scn10a	T	C	9: 119,495,556 (GRCm39)	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,321,169 (GRCm39)	Y1308N	probably damaging	Het
Slc25a36	A	G	9: 96,962,408 (GRCm39)	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,701,202 (GRCm39)	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,335,522 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,897 (GRCm39)	S322T	probably damaging	Het
Smarcc2	A	T	10: 128,310,114 (GRCm39)	T376S	probably damaging	Het
Srebf1	C	T	11: 60,091,528 (GRCm39)	R999H	probably benign	Het
St3gal3	A	C	4: 117,964,859 (GRCm39)	M1R	probably null	Het
Syp	A	T	X: 7,514,944 (GRCm39)		probably benign	Het
Tas1r2	A	G	4: 139,396,722 (GRCm39)	D687G	probably damaging	Het
Tekt4	A	T	17: 25,691,048 (GRCm39)	Q118L	probably benign	Het
Thoc2l	T	A	5: 104,666,123 (GRCm39)	I215N	probably damaging	Het
Tph2	T	C	10: 114,915,600 (GRCm39)	N480S	probably benign	Het
Tsc2	A	T	17: 24,827,947 (GRCm39)	M839K	probably damaging	Het
Ttc22	T	C	4: 106,479,977 (GRCm39)	F77S	probably damaging	Het
Uaca	C	T	9: 60,761,603 (GRCm39)	A205V	possibly damaging	Het
Uhmk1	A	T	1: 170,036,222 (GRCm39)		probably null	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vwa3a	A	G	7: 120,367,388 (GRCm39)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,129,721 (GRCm39)	T140I	probably damaging	Het
Zfp704	G	T	3: 9,512,408 (GRCm39)	T288N	possibly damaging	Het
Zfp93	T	C	7: 23,975,521 (GRCm39)	V502A	probably damaging	Het
Zzef1	C	T	11: 72,815,505 (GRCm39)	P2942S	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
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'- TGTCAGCTATTTCACAACATACCATTCACAA -3'
(R):5'- TCCAAGCCAgacattcttcagacac -3'

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

Posted On

2014-03-28