Incidental Mutation 'R5454:Slc10a7'
ID 432674
Institutional Source Beutler Lab
Gene Symbol Slc10a7
Ensembl Gene ENSMUSG00000031684
Gene Name solute carrier family 10 (sodium/bile acid cotransporter family), member 7
Synonyms 2410193C02Rik
MMRRC Submission 043018-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.878) question?
Stock # R5454 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 79235975-79460632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79413253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 171 (S171P)
Ref Sequence ENSEMBL: ENSMUSP00000147724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286]
AlphaFold Q5PT53
Predicted Effect possibly damaging
Transcript: ENSMUST00000034111
AA Change: S171P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: S171P

DomainStartEndE-ValueType
Pfam:SBF_like 10 324 1.9e-82 PFAM
Pfam:SBF 44 224 2.9e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209490
AA Change: S171P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000209992
Predicted Effect probably benign
Transcript: ENSMUST00000210515
Predicted Effect probably benign
Transcript: ENSMUST00000210630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210703
Predicted Effect possibly damaging
Transcript: ENSMUST00000211286
AA Change: S171P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211332
Meta Mutation Damage Score 0.0764 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T C 9: 89,051,041 (GRCm39) noncoding transcript Het
Ankfy1 A T 11: 72,637,757 (GRCm39) H483L probably benign Het
Ankrd46 C T 15: 36,479,447 (GRCm39) G215R probably damaging Het
Apobec1 T C 6: 122,558,327 (GRCm39) I143V probably benign Het
Atp2b4 C A 1: 133,657,610 (GRCm39) V627F probably damaging Het
Ccdc80 T A 16: 44,947,588 (GRCm39) Y855* probably null Het
Cd209b T C 8: 3,975,396 (GRCm39) E88G probably damaging Het
Ceacam14 T G 7: 17,548,110 (GRCm39) W67G probably damaging Het
Cope T C 8: 70,757,306 (GRCm39) V50A probably benign Het
Dcaf13 C A 15: 38,987,759 (GRCm39) D168E probably benign Het
Dhcr7 T G 7: 143,391,576 (GRCm39) M55R probably damaging Het
Enpp7 A T 11: 118,879,634 (GRCm39) Y96F probably benign Het
Esco1 T C 18: 10,584,327 (GRCm39) D60G probably benign Het
Fgfr3 G A 5: 33,880,642 (GRCm39) probably benign Het
Frzb T C 2: 80,248,259 (GRCm39) D280G probably damaging Het
Gcat A G 15: 78,920,610 (GRCm39) I317V probably benign Het
Gm13030 A T 4: 138,600,820 (GRCm39) probably benign Het
Gmds A G 13: 32,312,024 (GRCm39) L135P probably damaging Het
Htra2 G A 6: 83,030,995 (GRCm39) P138L probably damaging Het
Il5 A G 11: 53,614,626 (GRCm39) N89S probably damaging Het
Ints3 G A 3: 90,315,834 (GRCm39) T310M possibly damaging Het
Itih2 T C 2: 10,102,804 (GRCm39) I777V probably null Het
Kctd9 T C 14: 67,977,836 (GRCm39) L382S probably damaging Het
Loricrin A G 3: 91,988,789 (GRCm39) S166P unknown Het
Mga T A 2: 119,733,810 (GRCm39) N219K probably damaging Het
Mtmr4 A T 11: 87,501,868 (GRCm39) R641* probably null Het
Muc6 C T 7: 141,235,078 (GRCm39) A611T possibly damaging Het
Obox3-ps8 A T 17: 36,763,903 (GRCm39) noncoding transcript Het
Or5p54 A T 7: 107,554,096 (GRCm39) M83L probably benign Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pcdhga12 T A 18: 37,899,314 (GRCm39) S49T possibly damaging Het
Pcdhgc3 A G 18: 37,941,549 (GRCm39) D650G probably damaging Het
Pcmt1 A G 10: 7,516,509 (GRCm39) V167A probably damaging Het
Pcnt A T 10: 76,225,381 (GRCm39) probably null Het
Pcx G T 19: 4,652,504 (GRCm39) V164F probably damaging Het
Plekhg4 T C 8: 106,102,745 (GRCm39) probably null Het
Pmch A G 10: 87,927,707 (GRCm39) E136G probably damaging Het
Prkar1a A G 11: 109,550,886 (GRCm39) D80G probably benign Het
Ryr3 T C 2: 112,560,647 (GRCm39) probably null Het
Sox6 A T 7: 115,301,008 (GRCm39) M153K possibly damaging Het
Srgap2 T C 1: 131,217,475 (GRCm39) I946V probably benign Het
Strbp T C 2: 37,535,495 (GRCm39) E71G probably benign Het
Synpo2l C A 14: 20,712,360 (GRCm39) A87S probably damaging Het
Tnrc18 T C 5: 142,757,446 (GRCm39) D1025G unknown Het
Tnxb A G 17: 34,928,599 (GRCm39) H2671R possibly damaging Het
Tor1b GGACG GG 2: 30,846,957 (GRCm39) probably benign Het
Umodl1 A T 17: 31,205,439 (GRCm39) D649V possibly damaging Het
Usp13 G T 3: 32,959,585 (GRCm39) A559S probably damaging Het
Vps45 G A 3: 95,926,969 (GRCm39) P526L probably benign Het
Zfp687 A G 3: 94,916,457 (GRCm39) V855A probably damaging Het
Zfp771 T A 7: 126,853,448 (GRCm39) C205S probably damaging Het
Other mutations in Slc10a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Slc10a7 APN 8 79,425,209 (GRCm39) splice site probably benign
IGL01589:Slc10a7 APN 8 79,456,369 (GRCm39) missense probably damaging 0.98
IGL01868:Slc10a7 APN 8 79,423,965 (GRCm39) splice site probably null
IGL02197:Slc10a7 APN 8 79,242,292 (GRCm39) missense probably damaging 0.98
IGL02205:Slc10a7 APN 8 79,423,932 (GRCm39) missense probably benign 0.04
IGL03128:Slc10a7 APN 8 79,251,846 (GRCm39) missense probably damaging 1.00
R0123:Slc10a7 UTSW 8 79,423,787 (GRCm39) splice site probably null
R0134:Slc10a7 UTSW 8 79,423,787 (GRCm39) splice site probably null
R1973:Slc10a7 UTSW 8 79,423,962 (GRCm39) critical splice donor site probably null
R2266:Slc10a7 UTSW 8 79,236,264 (GRCm39) missense probably benign 0.02
R2362:Slc10a7 UTSW 8 79,236,261 (GRCm39) missense probably damaging 0.99
R4756:Slc10a7 UTSW 8 79,433,579 (GRCm39) critical splice donor site probably null
R5753:Slc10a7 UTSW 8 79,251,928 (GRCm39) critical splice donor site probably null
R6621:Slc10a7 UTSW 8 79,242,263 (GRCm39) missense probably damaging 1.00
R7814:Slc10a7 UTSW 8 79,425,202 (GRCm39) critical splice donor site probably null
R7977:Slc10a7 UTSW 8 79,423,843 (GRCm39) missense probably benign 0.13
R7987:Slc10a7 UTSW 8 79,423,843 (GRCm39) missense probably benign 0.13
R9141:Slc10a7 UTSW 8 79,236,241 (GRCm39) missense probably benign 0.12
R9586:Slc10a7 UTSW 8 79,456,266 (GRCm39) missense probably damaging 1.00
R9684:Slc10a7 UTSW 8 79,456,304 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TACACATGCACGCGGATAC -3'
(R):5'- GAGTGGCTTAACTGAAAGTTCAAAG -3'

Sequencing Primer
(F):5'- CCAGATAAGAGAATGAGACATGTTTG -3'
(R):5'- GATGAAAATGCCAAAACCGTGC -3'
Posted On 2016-10-06