Incidental Mutation 'IGL00326:Slc5a9'
ID6607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a9
Ensembl Gene ENSMUSG00000028544
Gene Namesolute carrier family 5 (sodium/glucose cotransporter), member 9
SynonymsSGLT4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00326
Quality Score
Status
Chromosome4
Chromosomal Location111875375-111902918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111898569 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000099782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102719] [ENSMUST00000102720] [ENSMUST00000102721] [ENSMUST00000128340]
Predicted Effect probably damaging
Transcript: ENSMUST00000102719
AA Change: V44A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: V44A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000102720
AA Change: V44A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: V44A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000102721
AA Change: V44A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: V44A

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544

DomainStartEndE-ValueType
Pfam:SSF 23 255 9.3e-70 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik G T 4: 62,543,744 probably null Het
9230109A22Rik G T 15: 25,139,115 noncoding transcript Het
Acd A T 8: 105,698,454 Y378N probably damaging Het
Adcy9 A G 16: 4,294,696 V709A probably benign Het
Axl A T 7: 25,785,899 L168H probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Drd3 G A 16: 43,762,321 R59H probably benign Het
Erlec1 T C 11: 30,948,510 N180S possibly damaging Het
Fnip2 G T 3: 79,481,521 S634R probably benign Het
Focad A T 4: 88,357,474 T1107S unknown Het
Galnt11 T C 5: 25,248,831 probably benign Het
Gigyf1 C T 5: 137,518,948 probably benign Het
Gpat2 A G 2: 127,432,396 T353A probably benign Het
Hip1 A G 5: 135,449,822 F178L probably damaging Het
Hist1h2bb G T 13: 23,747,128 V112L possibly damaging Het
Igkv6-13 A T 6: 70,457,661 S67T probably damaging Het
Iqch T C 9: 63,480,654 T824A probably damaging Het
Kansl1 A G 11: 104,424,466 S249P probably damaging Het
Large1 C T 8: 73,131,983 A86T probably benign Het
Lysmd3 C T 13: 81,665,244 A77V probably damaging Het
Npr3 T A 15: 11,895,694 S289C probably damaging Het
Olfr480 A G 7: 108,066,288 V140A probably benign Het
Olfr666 A T 7: 104,892,972 S219T probably damaging Het
Pear1 C T 3: 87,752,116 V804I possibly damaging Het
Rgs11 T A 17: 26,207,397 I230N probably damaging Het
Slc13a3 A T 2: 165,473,097 L22Q possibly damaging Het
Ttc12 G T 9: 49,471,206 probably null Het
Vmn2r2 A G 3: 64,133,898 probably benign Het
Zc3h18 T C 8: 122,386,852 probably benign Het
Zfp354a G A 11: 51,069,363 E132K probably benign Het
Other mutations in Slc5a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02971:Slc5a9 APN 4 111890300 missense possibly damaging 0.58
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 intron probably null
R4568:Slc5a9 UTSW 4 111891744 intron probably null
R4579:Slc5a9 UTSW 4 111893187 missense probably damaging 1.00
R4656:Slc5a9 UTSW 4 111891744 intron probably null
R4657:Slc5a9 UTSW 4 111891744 intron probably null
R4700:Slc5a9 UTSW 4 111890937 missense possibly damaging 0.64
R4889:Slc5a9 UTSW 4 111891744 intron probably null
R4891:Slc5a9 UTSW 4 111891744 intron probably null
R4911:Slc5a9 UTSW 4 111891744 intron probably null
R4948:Slc5a9 UTSW 4 111891744 intron probably null
R4953:Slc5a9 UTSW 4 111891744 intron 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
X0012:Slc5a9 UTSW 4 111893314 missense probably damaging 0.99
Z1177:Slc5a9 UTSW 4 111891816 missense probably null 1.00
Posted On2012-04-20