Incidental Mutation 'R5222:Slc5a9'
ID 402359
Institutional Source Beutler Lab
Gene Symbol Slc5a9
Ensembl Gene ENSMUSG00000028544
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 9
Synonyms SGLT4
MMRRC Submission 042795-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 111732571-111759993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111755808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 30 (H30L)
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: H30L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: H30L

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 possibly damaging
Transcript: ENSMUST00000102720
AA Change: H30L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: H30L

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 possibly damaging
Transcript: ENSMUST00000102721
AA Change: H30L

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: H30L

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
Meta Mutation Damage Score 0.1132 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Vrk3 A T 7: 44,409,220 (GRCm39) Q129L possibly damaging Het
Wapl T A 14: 34,458,642 (GRCm39) C901* probably null Het
Other mutations in Slc5a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Slc5a9 APN 4 111,755,766 (GRCm39) missense probably damaging 0.99
IGL00837:Slc5a9 APN 4 111,750,887 (GRCm39) intron probably benign
IGL01556:Slc5a9 APN 4 111,755,833 (GRCm39) missense probably benign 0.00
IGL01807:Slc5a9 APN 4 111,734,737 (GRCm39) makesense probably null
IGL01816:Slc5a9 APN 4 111,755,811 (GRCm39) missense probably damaging 1.00
IGL02066:Slc5a9 APN 4 111,744,719 (GRCm39) missense probably damaging 1.00
IGL02370:Slc5a9 APN 4 111,734,826 (GRCm39) missense probably benign 0.01
IGL02491:Slc5a9 APN 4 111,753,549 (GRCm39) missense probably damaging 0.99
IGL02971:Slc5a9 APN 4 111,747,497 (GRCm39) missense possibly damaging 0.58
IGL03008:Slc5a9 APN 4 111,748,138 (GRCm39) missense probably benign 0.14
R0365:Slc5a9 UTSW 4 111,749,033 (GRCm39) nonsense probably null
R0559:Slc5a9 UTSW 4 111,742,779 (GRCm39) missense probably benign 0.02
R0659:Slc5a9 UTSW 4 111,741,068 (GRCm39) missense possibly damaging 0.82
R1454:Slc5a9 UTSW 4 111,741,161 (GRCm39) missense probably benign 0.04
R2006:Slc5a9 UTSW 4 111,737,423 (GRCm39) missense probably benign
R2014:Slc5a9 UTSW 4 111,753,546 (GRCm39) missense possibly damaging 0.76
R2024:Slc5a9 UTSW 4 111,747,728 (GRCm39) missense probably damaging 1.00
R2076:Slc5a9 UTSW 4 111,742,770 (GRCm39) missense possibly damaging 0.76
R2152:Slc5a9 UTSW 4 111,750,420 (GRCm39) missense possibly damaging 0.76
R3156:Slc5a9 UTSW 4 111,747,421 (GRCm39) missense possibly damaging 0.80
R4566:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4568:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4579:Slc5a9 UTSW 4 111,750,384 (GRCm39) missense probably damaging 1.00
R4656:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4657:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4700:Slc5a9 UTSW 4 111,748,134 (GRCm39) missense possibly damaging 0.64
R4889:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4891:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4911:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4948:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R4953:Slc5a9 UTSW 4 111,748,941 (GRCm39) splice site probably null
R5376:Slc5a9 UTSW 4 111,750,414 (GRCm39) missense possibly damaging 0.80
R5502:Slc5a9 UTSW 4 111,750,366 (GRCm39) nonsense probably null
R5851:Slc5a9 UTSW 4 111,742,797 (GRCm39) missense probably benign
R6030:Slc5a9 UTSW 4 111,742,725 (GRCm39) missense possibly damaging 0.64
R6030:Slc5a9 UTSW 4 111,742,725 (GRCm39) missense possibly damaging 0.64
R6125:Slc5a9 UTSW 4 111,741,002 (GRCm39) missense probably damaging 1.00
R6326:Slc5a9 UTSW 4 111,737,450 (GRCm39) missense probably benign
R6438:Slc5a9 UTSW 4 111,749,022 (GRCm39) missense probably benign 0.00
R7105:Slc5a9 UTSW 4 111,755,892 (GRCm39) missense probably benign
R7166:Slc5a9 UTSW 4 111,741,036 (GRCm39) missense probably benign 0.04
R7489:Slc5a9 UTSW 4 111,741,113 (GRCm39) missense probably damaging 1.00
R7599:Slc5a9 UTSW 4 111,734,937 (GRCm39) missense probably benign
R7662:Slc5a9 UTSW 4 111,734,737 (GRCm39) makesense probably null
R7762:Slc5a9 UTSW 4 111,747,371 (GRCm39) missense probably damaging 0.99
R7992:Slc5a9 UTSW 4 111,747,729 (GRCm39) missense probably benign 0.37
R8851:Slc5a9 UTSW 4 111,755,790 (GRCm39) missense probably damaging 0.97
R8918:Slc5a9 UTSW 4 111,741,147 (GRCm39) missense probably benign 0.00
R9387:Slc5a9 UTSW 4 111,750,864 (GRCm39) missense probably damaging 1.00
R9425:Slc5a9 UTSW 4 111,734,803 (GRCm39) missense probably damaging 0.96
R9483:Slc5a9 UTSW 4 111,747,418 (GRCm39) missense probably damaging 1.00
R9506:Slc5a9 UTSW 4 111,750,439 (GRCm39) nonsense probably null
X0012:Slc5a9 UTSW 4 111,750,511 (GRCm39) missense probably damaging 0.99
Z1177:Slc5a9 UTSW 4 111,749,013 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- AGTATCAGCTACCTTTGGTTGG -3'
(R):5'- AGGACTCCTCCCTTTCTCGAAG -3'

Sequencing Primer
(F):5'- AGCTACCTTTGGTTGGGCTCTC -3'
(R):5'- TCTCGAAGGCTAATCATACTTGG -3'
Posted On 2016-07-22