Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Slc5a9'

365815

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a9

Ensembl Gene

ENSMUSG00000028544

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 9

Synonyms

SGLT4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

111875375-111902918 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111890300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 297 (I297V)

Ref Sequence

ENSEMBL: ENSMUSP00000099782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102719] [ENSMUST00000102720] [ENSMUST00000102721] [ENSMUST00000128340]

AlphaFold

Q8VDT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102719
AA Change: I297V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: I297V

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:SSF	63	492	2.3e-152	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	665	684	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102720
AA Change: I297V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: I297V

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:SSF	63	492	2.3e-152	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	665	684	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102721
AA Change: I297V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: I297V

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:SSF	63	492	2.3e-152	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	665	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128340
AA Change: I212V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544
AA Change: I212V

Domain	Start	End	E-Value	Type
Pfam:SSF	23	255	9.3e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149922

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	Het

Other mutations in Slc5a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Slc5a9	APN	4	111898569	missense	probably damaging	0.99
IGL00837:Slc5a9	APN	4	111893690	intron	probably benign
IGL01556:Slc5a9	APN	4	111898636	missense	probably benign	0.00
IGL01807:Slc5a9	APN	4	111877540	makesense	probably null
IGL01816:Slc5a9	APN	4	111898614	missense	probably damaging	1.00
IGL02066:Slc5a9	APN	4	111887522	missense	probably damaging	1.00
IGL02370:Slc5a9	APN	4	111877629	missense	probably benign	0.01
IGL02491:Slc5a9	APN	4	111896352	missense	probably damaging	0.99
IGL03008:Slc5a9	APN	4	111890941	missense	probably benign	0.14
R0365:Slc5a9	UTSW	4	111891836	nonsense	probably null
R0559:Slc5a9	UTSW	4	111885582	missense	probably benign	0.02
R0659:Slc5a9	UTSW	4	111883871	missense	possibly damaging	0.82
R1454:Slc5a9	UTSW	4	111883964	missense	probably benign	0.04
R2006:Slc5a9	UTSW	4	111880226	missense	probably benign
R2014:Slc5a9	UTSW	4	111896349	missense	possibly damaging	0.76
R2024:Slc5a9	UTSW	4	111890531	missense	probably damaging	1.00
R2076:Slc5a9	UTSW	4	111885573	missense	possibly damaging	0.76
R2152:Slc5a9	UTSW	4	111893223	missense	possibly damaging	0.76
R3156:Slc5a9	UTSW	4	111890224	missense	possibly damaging	0.80
R4566:Slc5a9	UTSW	4	111891744	splice site	probably null
R4568:Slc5a9	UTSW	4	111891744	splice site	probably null
R4579:Slc5a9	UTSW	4	111893187	missense	probably damaging	1.00
R4656:Slc5a9	UTSW	4	111891744	splice site	probably null
R4657:Slc5a9	UTSW	4	111891744	splice site	probably null
R4700:Slc5a9	UTSW	4	111890937	missense	possibly damaging	0.64
R4889:Slc5a9	UTSW	4	111891744	splice site	probably null
R4891:Slc5a9	UTSW	4	111891744	splice site	probably null
R4911:Slc5a9	UTSW	4	111891744	splice site	probably null
R4948:Slc5a9	UTSW	4	111891744	splice site	probably null
R4953:Slc5a9	UTSW	4	111891744	splice site	probably null
R5222:Slc5a9	UTSW	4	111898611	missense	possibly damaging	0.55
R5376:Slc5a9	UTSW	4	111893217	missense	possibly damaging	0.80
R5502:Slc5a9	UTSW	4	111893169	nonsense	probably null
R5851:Slc5a9	UTSW	4	111885600	missense	probably benign
R6030:Slc5a9	UTSW	4	111885528	missense	possibly damaging	0.64
R6030:Slc5a9	UTSW	4	111885528	missense	possibly damaging	0.64
R6125:Slc5a9	UTSW	4	111883805	missense	probably damaging	1.00
R6326:Slc5a9	UTSW	4	111880253	missense	probably benign
R6438:Slc5a9	UTSW	4	111891825	missense	probably benign	0.00
R7105:Slc5a9	UTSW	4	111898695	missense	probably benign
R7166:Slc5a9	UTSW	4	111883839	missense	probably benign	0.04
R7489:Slc5a9	UTSW	4	111883916	missense	probably damaging	1.00
R7599:Slc5a9	UTSW	4	111877740	missense	probably benign
R7662:Slc5a9	UTSW	4	111877540	makesense	probably null
R7762:Slc5a9	UTSW	4	111890174	missense	probably damaging	0.99
R7992:Slc5a9	UTSW	4	111890532	missense	probably benign	0.37
R8851:Slc5a9	UTSW	4	111898593	missense	probably damaging	0.97
R8918:Slc5a9	UTSW	4	111883950	missense	probably benign	0.00
R9387:Slc5a9	UTSW	4	111893667	missense	probably damaging	1.00
R9425:Slc5a9	UTSW	4	111877606	missense	probably damaging	0.96
R9483:Slc5a9	UTSW	4	111890221	missense	probably damaging	1.00
R9506:Slc5a9	UTSW	4	111893242	nonsense	probably null
X0012:Slc5a9	UTSW	4	111893314	missense	probably damaging	0.99
Z1177:Slc5a9	UTSW	4	111891816	missense	probably null	1.00

Posted On

2015-12-18