Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Sis'

376299

Institutional Source

Beutler Lab

Gene Symbol

Sis

Ensembl Gene

ENSMUSG00000027790

Gene Name

sucrase isomaltase (alpha-glucosidase)

Synonyms

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

72888557-72967863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72943548 bp (GRCm38)

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: 105,710,097 (GRCm38)	*299W	probably null	Het
4933412E24Rik	G	A	15: 60,015,968 (GRCm38)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,974,512 (GRCm38)	A373V	probably benign	Het
Actn3	A	T	19: 4,864,454 (GRCm38)	W549R	probably benign	Het
Adamts4	C	T	1: 171,252,431 (GRCm38)		probably benign	Het
Adcy4	T	C	14: 55,773,722 (GRCm38)	I615V	probably benign	Het
Akap1	A	G	11: 88,844,553 (GRCm38)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,743,504 (GRCm38)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,600,627 (GRCm38)	S151G	possibly damaging	Het
Aoah	T	A	13: 20,914,981 (GRCm38)	Y243*	probably null	Het
Asap1	A	G	15: 64,094,181 (GRCm38)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,551,866 (GRCm38)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,924,882 (GRCm38)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,870,456 (GRCm38)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,956,786 (GRCm38)		probably null	Het
Casp3	A	T	8: 46,634,279 (GRCm38)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,694,332 (GRCm38)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 45,104,413 (GRCm38)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,492,833 (GRCm38)	F55L	probably benign	Het
Cmah	T	A	13: 24,464,264 (GRCm38)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,083,023 (GRCm38)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,370,952 (GRCm38)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,993,398 (GRCm38)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,255,409 (GRCm38)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,092,076 (GRCm38)		probably benign	Het
Dhx34	T	C	7: 16,199,802 (GRCm38)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,170,186 (GRCm38)	M541V	probably benign	Het
Dnah17	A	T	11: 118,108,212 (GRCm38)	S912T	probably benign	Het
Dnah2	A	T	11: 69,463,648 (GRCm38)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,179,693 (GRCm38)	W1502R	probably damaging	Het
Dzip1	A	T	14: 118,877,214 (GRCm38)	V843E	probably damaging	Het
Esp23	G	T	17: 39,074,024 (GRCm38)	T27K	probably benign	Het
Esp3	A	T	17: 40,633,529 (GRCm38)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,395,797 (GRCm38)	T71S	probably benign	Het
Fpgs	G	A	2: 32,692,661 (GRCm38)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,548,919 (GRCm38)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,751,410 (GRCm38)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,785,317 (GRCm38)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,429,379 (GRCm38)	V246I	probably damaging	Het
Krt75	C	T	15: 101,568,121 (GRCm38)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,701,290 (GRCm38)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,583,009 (GRCm38)	V114L	probably damaging	Het
Maml3	C	A	3: 52,103,924 (GRCm38)	E74*	probably null	Het
Map2k7	G	A	8: 4,247,751 (GRCm38)		probably benign	Het
Mapk8ip3	A	G	17: 24,901,415 (GRCm38)	V883A	probably benign	Het
Mbtps1	C	T	8: 119,508,928 (GRCm38)	V1004I	probably benign	Het
Metap1	G	T	3: 138,483,089 (GRCm38)	H48Q	probably damaging	Het
Mical2	T	A	7: 112,318,624 (GRCm38)	V396E	probably damaging	Het
Mks1	T	A	11: 87,853,723 (GRCm38)		probably benign	Het
Ndst1	T	C	18: 60,695,476 (GRCm38)	T669A	probably benign	Het
Obox3	T	C	7: 15,627,310 (GRCm38)	K10R	probably damaging	Het
Opn3	T	C	1: 175,663,561 (GRCm38)	Y302C	probably damaging	Het
Or4f62	T	A	2: 112,156,571 (GRCm38)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,971,767 (GRCm38)	M192I	probably benign	Het
Or9g8	T	G	2: 85,776,626 (GRCm38)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 58,974,756 (GRCm38)	V177D	probably benign	Het
Pex5l	T	A	3: 32,952,490 (GRCm38)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,748,853 (GRCm38)	Y366*	probably null	Het
Prr14l	A	T	5: 32,829,937 (GRCm38)	M738K	probably benign	Het
Prx	T	C	7: 27,517,579 (GRCm38)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,831,057 (GRCm38)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,381,900 (GRCm38)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,694,141 (GRCm38)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,009,185 (GRCm38)	S259T	probably damaging	Het
Sike1	A	G	3: 102,997,414 (GRCm38)		probably null	Het
Slc30a9	T	C	5: 67,324,683 (GRCm38)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,178,231 (GRCm38)	I424T	probably damaging	Het
Spx	C	T	6: 142,416,390 (GRCm38)	R72*	probably null	Het
St7	C	A	6: 17,819,266 (GRCm38)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,728,008 (GRCm38)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,486,082 (GRCm38)		probably null	Het
Tgfb3	T	C	12: 86,062,181 (GRCm38)	D258G	probably benign	Het
Timeless	G	T	10: 128,247,361 (GRCm38)	G659V	probably benign	Het
Tnn	T	C	1: 160,130,873 (GRCm38)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,956,577 (GRCm38)		probably null	Het
Trank1	T	A	9: 111,365,641 (GRCm38)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,351,599 (GRCm38)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,629,466 (GRCm38)	I389N	probably damaging	Het
Tut4	T	C	4: 108,549,220 (GRCm38)		probably benign	Het
Ube3b	T	C	5: 114,398,427 (GRCm38)	V216A	probably benign	Het
Vezf1	T	A	11: 88,074,694 (GRCm38)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 21,133,302 (GRCm38)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,504,736 (GRCm38)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,481,481 (GRCm38)	I442F	probably benign	Het
Vwa8	C	A	14: 79,183,082 (GRCm38)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,738,234 (GRCm38)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,216,851 (GRCm38)	Q372P	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
R1584:Sis	UTSW	3	72,932,060 (GRCm38)	missense	possibly damaging	0.60
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
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'- CGTCCAACTACTATAGGTGCAAG -3'
(R):5'- GTTTCTCAGCTATGCTAATTACCAG -3'

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

Posted On

2016-03-17