Incidental Mutation 'R6681:Slc26a10'
ID 527508
Institutional Source Beutler Lab
Gene Symbol Slc26a10
Ensembl Gene ENSMUSG00000040441
Gene Name solute carrier family 26, member 10
Synonyms
MMRRC Submission 044800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6681 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127007262-127016514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127009530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 606 (T606N)
Ref Sequence ENSEMBL: ENSMUSP00000092904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006914] [ENSMUST00000095270] [ENSMUST00000217678] [ENSMUST00000222911]
AlphaFold Q5EBI0
Predicted Effect probably benign
Transcript: ENSMUST00000006914
SMART Domains Protein: ENSMUSP00000006914
Gene: ENSMUSG00000006731

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
low complexity region 191 202 N/A INTRINSIC
Pfam:Glycos_transf_2 280 450 7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000095270
AA Change: T606N

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092904
Gene: ENSMUSG00000040441
AA Change: T606N

DomainStartEndE-ValueType
low complexity region 51 78 N/A INTRINSIC
low complexity region 82 97 N/A INTRINSIC
Pfam:Sulfate_transp 105 497 5.5e-103 PFAM
low complexity region 512 522 N/A INTRINSIC
Pfam:STAS 549 664 3.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221174
Predicted Effect possibly damaging
Transcript: ENSMUST00000222911
AA Change: T598N

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,915,447 (GRCm39) T971S probably damaging Het
Catsperb C T 12: 101,590,994 (GRCm39) Q1021* probably null Het
Ccdc62 A G 5: 124,072,156 (GRCm39) T62A probably benign Het
Cuzd1 A G 7: 130,913,412 (GRCm39) S402P probably damaging Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Dennd2c A G 3: 103,038,977 (GRCm39) T42A probably benign Het
Dnah7a T C 1: 53,560,385 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpp4 A T 2: 62,178,893 (GRCm39) F607L probably benign Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam53a A G 5: 33,765,184 (GRCm39) L174P probably damaging Het
Fh1 T C 1: 175,446,690 (GRCm39) D62G probably null Het
Gpatch11 T C 17: 79,147,528 (GRCm39) I103T probably damaging Het
Hmgcll1 A T 9: 75,988,731 (GRCm39) T169S probably benign Het
Kbtbd3 A T 9: 4,330,687 (GRCm39) I354F probably benign Het
Kdm5b T C 1: 134,541,007 (GRCm39) F700L possibly damaging Het
Mamdc4 C A 2: 25,457,756 (GRCm39) G439V probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Mug1 C T 6: 121,815,683 (GRCm39) S29L possibly damaging Het
Myh2 G A 11: 67,069,174 (GRCm39) D328N probably damaging Het
Or10j3b C A 1: 173,043,973 (GRCm39) H252N probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Or5j1 T C 2: 86,878,942 (GRCm39) T213A probably benign Het
Or8g54 T A 9: 39,706,710 (GRCm39) I13N probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pira13 T A 7: 3,825,251 (GRCm39) M464L probably benign Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Rest A G 5: 77,428,844 (GRCm39) K421R probably damaging Het
Rttn C A 18: 89,032,735 (GRCm39) H668N probably damaging Het
Scn9a T C 2: 66,393,686 (GRCm39) I228V possibly damaging Het
Scp2 G T 4: 107,948,513 (GRCm39) Q155K probably damaging Het
Sec61a2 G A 2: 5,881,219 (GRCm39) R18* probably null Het
Serpinb8 T A 1: 107,525,321 (GRCm39) M41K probably damaging Het
Sgsm2 A T 11: 74,756,204 (GRCm39) W382R probably damaging Het
Slc30a6 T C 17: 74,711,027 (GRCm39) I40T possibly damaging Het
Slfn5 G A 11: 82,847,204 (GRCm39) E30K possibly damaging Het
Sorcs2 C A 5: 36,555,154 (GRCm39) R79L probably benign Het
Tmc5 G A 7: 118,268,527 (GRCm39) S865N probably damaging Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Trpv5 C G 6: 41,630,288 (GRCm39) E601Q probably damaging Het
Ttc39b A T 4: 83,158,285 (GRCm39) probably benign Het
Ttll6 T A 11: 96,029,689 (GRCm39) C201S probably damaging Het
Vezt A G 10: 93,832,859 (GRCm39) V204A probably benign Het
Vmn1r45 T A 6: 89,910,985 (GRCm39) probably benign Het
Zfp433 A T 10: 81,556,722 (GRCm39) H408L probably damaging Het
Zfp865 T C 7: 5,032,450 (GRCm39) I145T possibly damaging Het
Other mutations in Slc26a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Slc26a10 APN 10 127,010,046 (GRCm39) splice site probably benign
IGL01657:Slc26a10 APN 10 127,010,903 (GRCm39) missense probably damaging 1.00
R1202:Slc26a10 UTSW 10 127,009,217 (GRCm39) missense probably damaging 0.99
R1844:Slc26a10 UTSW 10 127,014,279 (GRCm39) missense probably damaging 0.97
R2423:Slc26a10 UTSW 10 127,015,606 (GRCm39) critical splice acceptor site probably null
R4031:Slc26a10 UTSW 10 127,013,871 (GRCm39) missense possibly damaging 0.57
R4779:Slc26a10 UTSW 10 127,009,224 (GRCm39) missense possibly damaging 0.73
R5405:Slc26a10 UTSW 10 127,010,864 (GRCm39) missense probably benign 0.09
R5478:Slc26a10 UTSW 10 127,009,818 (GRCm39) missense probably benign 0.05
R5657:Slc26a10 UTSW 10 127,010,833 (GRCm39) intron probably benign
R5990:Slc26a10 UTSW 10 127,014,627 (GRCm39) missense possibly damaging 0.81
R7083:Slc26a10 UTSW 10 127,013,037 (GRCm39) missense probably damaging 1.00
R7365:Slc26a10 UTSW 10 127,012,716 (GRCm39) missense possibly damaging 0.95
R7997:Slc26a10 UTSW 10 127,009,178 (GRCm39) missense possibly damaging 0.93
R8211:Slc26a10 UTSW 10 127,009,834 (GRCm39) missense probably benign 0.06
R8268:Slc26a10 UTSW 10 127,009,491 (GRCm39) critical splice donor site probably null
R8906:Slc26a10 UTSW 10 127,016,459 (GRCm39) missense probably benign 0.02
R9390:Slc26a10 UTSW 10 127,009,239 (GRCm39) missense probably benign
Z1177:Slc26a10 UTSW 10 127,015,527 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AAGTGTCCAGTCAGTCCTCC -3'
(R):5'- TGAGGATGGCACTTATGTGATC -3'

Sequencing Primer
(F):5'- ACCATTACACTGAGCCAAGAGAAGG -3'
(R):5'- ATCTTGTTGTCTTTGTTTACAGCCAG -3'
Posted On 2018-07-23