Incidental Mutation 'R5302:Slc44a3'
ID 404288
Institutional Source Beutler Lab
Gene Symbol Slc44a3
Ensembl Gene ENSMUSG00000039865
Gene Name solute carrier family 44, member 3
Synonyms
MMRRC Submission 042885-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5302 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 121253177-121325993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121303962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 258 (V258A)
Ref Sequence ENSEMBL: ENSMUSP00000040210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039197]
AlphaFold Q921V7
Predicted Effect probably damaging
Transcript: ENSMUST00000039197
AA Change: V258A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: V258A

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 217 239 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
Pfam:Choline_transpo 291 607 2.3e-80 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,323,111 (GRCm39) V1657A possibly damaging Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Acot5 A G 12: 84,120,215 (GRCm39) Y190C probably damaging Het
Ascc3 T A 10: 50,583,873 (GRCm39) Y941N probably benign Het
BC035947 A T 1: 78,488,599 (GRCm39) M1K probably null Het
C2cd5 A G 6: 143,019,482 (GRCm39) C278R probably benign Het
Cd200r1 G T 16: 44,613,172 (GRCm39) L259F possibly damaging Het
Clcn4 A G 7: 7,297,050 (GRCm39) V136A possibly damaging Het
Cntnap5a T C 1: 116,085,300 (GRCm39) S413P probably benign Het
Corin T A 5: 72,473,441 (GRCm39) E748D probably benign Het
Crtc2 G T 3: 90,168,325 (GRCm39) G356V probably damaging Het
D1Pas1 T A 1: 186,701,642 (GRCm39) Y524N probably damaging Het
Dlgap4 T C 2: 156,602,818 (GRCm39) S147P probably damaging Het
Eif1ad16 T A 12: 87,985,316 (GRCm39) I76F probably damaging Het
Enpp1 A T 10: 24,527,288 (GRCm39) I633N probably benign Het
Gm3095 A G 14: 15,170,367 (GRCm39) D72G probably null Het
Gm5449 C T 13: 53,679,787 (GRCm39) noncoding transcript Het
Gpx7 T C 4: 108,258,111 (GRCm39) T161A probably benign Het
Grip1 T C 10: 119,855,982 (GRCm39) L236P probably damaging Het
H2-Q2 G T 17: 35,563,885 (GRCm39) R255S probably damaging Het
Il17rc G T 6: 113,459,997 (GRCm39) A648S possibly damaging Het
Klhl12 A G 1: 134,417,189 (GRCm39) E540G possibly damaging Het
Mcm10 T C 2: 5,012,181 (GRCm39) I135V probably benign Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Nid2 A G 14: 19,829,769 (GRCm39) T687A probably benign Het
Npas3 A T 12: 54,115,619 (GRCm39) D829V probably damaging Het
Ocln T C 13: 100,642,807 (GRCm39) D176G probably damaging Het
Or11h6 A G 14: 50,879,776 (GRCm39) probably null Het
Pax3 A C 1: 78,098,249 (GRCm39) M380R possibly damaging Het
Pcdha3 A G 18: 37,081,208 (GRCm39) E650G probably damaging Het
Pdcd11 C A 19: 47,096,083 (GRCm39) H668N probably damaging Het
Polr3b T C 10: 84,535,264 (GRCm39) Y858H possibly damaging Het
Pus10 T C 11: 23,617,416 (GRCm39) probably null Het
Raver1 T C 9: 20,986,677 (GRCm39) D739G probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc26a11 T C 11: 119,254,276 (GRCm39) L198P probably damaging Het
Socs7 T A 11: 97,280,025 (GRCm39) I524N probably damaging Het
Steap4 T A 5: 8,025,547 (GRCm39) L36* probably null Het
Svep1 G C 4: 58,096,183 (GRCm39) T1479S possibly damaging Het
Ttn C A 2: 76,547,619 (GRCm39) V32184F probably damaging Het
Vmn1r22 T C 6: 57,877,960 (GRCm39) N6D possibly damaging Het
Other mutations in Slc44a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Slc44a3 APN 3 121,320,842 (GRCm39) missense probably damaging 1.00
IGL01527:Slc44a3 APN 3 121,320,777 (GRCm39) missense probably damaging 1.00
IGL02304:Slc44a3 APN 3 121,320,723 (GRCm39) missense possibly damaging 0.48
IGL02419:Slc44a3 APN 3 121,283,906 (GRCm39) missense probably benign 0.03
IGL02836:Slc44a3 APN 3 121,325,366 (GRCm39) missense probably damaging 1.00
IGL02937:Slc44a3 APN 3 121,303,970 (GRCm39) splice site probably benign
IGL03219:Slc44a3 APN 3 121,257,169 (GRCm39) missense probably damaging 1.00
BB009:Slc44a3 UTSW 3 121,306,009 (GRCm39) missense possibly damaging 0.86
BB019:Slc44a3 UTSW 3 121,306,009 (GRCm39) missense possibly damaging 0.86
R0597:Slc44a3 UTSW 3 121,253,719 (GRCm39) missense probably benign
R0668:Slc44a3 UTSW 3 121,303,852 (GRCm39) missense probably damaging 0.96
R1355:Slc44a3 UTSW 3 121,325,320 (GRCm39) missense probably damaging 1.00
R1608:Slc44a3 UTSW 3 121,291,496 (GRCm39) nonsense probably null
R1617:Slc44a3 UTSW 3 121,254,914 (GRCm39) missense probably benign 0.19
R1912:Slc44a3 UTSW 3 121,325,815 (GRCm39) missense probably benign 0.00
R2027:Slc44a3 UTSW 3 121,257,059 (GRCm39) splice site probably benign
R2087:Slc44a3 UTSW 3 121,319,319 (GRCm39) missense probably damaging 0.99
R2199:Slc44a3 UTSW 3 121,307,393 (GRCm39) missense probably benign 0.02
R4707:Slc44a3 UTSW 3 121,320,723 (GRCm39) missense possibly damaging 0.48
R4736:Slc44a3 UTSW 3 121,303,855 (GRCm39) missense probably damaging 0.97
R4784:Slc44a3 UTSW 3 121,320,723 (GRCm39) missense possibly damaging 0.48
R4785:Slc44a3 UTSW 3 121,320,723 (GRCm39) missense possibly damaging 0.48
R5835:Slc44a3 UTSW 3 121,320,849 (GRCm39) missense probably benign 0.03
R6252:Slc44a3 UTSW 3 121,307,386 (GRCm39) missense probably damaging 0.99
R6991:Slc44a3 UTSW 3 121,325,814 (GRCm39) missense probably benign 0.01
R7197:Slc44a3 UTSW 3 121,319,411 (GRCm39) missense probably benign 0.02
R7227:Slc44a3 UTSW 3 121,303,879 (GRCm39) missense possibly damaging 0.93
R7272:Slc44a3 UTSW 3 121,254,764 (GRCm39) missense probably damaging 0.99
R7932:Slc44a3 UTSW 3 121,306,009 (GRCm39) missense possibly damaging 0.86
R8104:Slc44a3 UTSW 3 121,291,521 (GRCm39) missense probably benign 0.01
R8529:Slc44a3 UTSW 3 121,319,334 (GRCm39) missense probably benign 0.36
R8679:Slc44a3 UTSW 3 121,283,918 (GRCm39) missense probably damaging 1.00
R8856:Slc44a3 UTSW 3 121,307,456 (GRCm39) missense probably damaging 1.00
R9053:Slc44a3 UTSW 3 121,320,839 (GRCm39) missense probably damaging 1.00
R9121:Slc44a3 UTSW 3 121,254,786 (GRCm39) missense probably benign 0.00
R9360:Slc44a3 UTSW 3 121,325,908 (GRCm39) start gained probably benign
Z1176:Slc44a3 UTSW 3 121,325,900 (GRCm39) start gained probably benign
Z1177:Slc44a3 UTSW 3 121,291,399 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CCTCAGCTCTCTCGGGAAATAG -3'
(R):5'- CTTGGCACAGATCACCTAGAG -3'

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