Incidental Mutation 'R6991:Slc44a3'
ID 543828
Institutional Source Beutler Lab
Gene Symbol Slc44a3
Ensembl Gene ENSMUSG00000039865
Gene Name solute carrier family 44, member 3
Synonyms
MMRRC Submission 045097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6991 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 121253177-121325993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121325814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 12 (Y12C)
Ref Sequence ENSEMBL: ENSMUSP00000040210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039197]
AlphaFold Q921V7
Predicted Effect probably benign
Transcript: ENSMUST00000039197
AA Change: Y12C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: Y12C

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,279,871 (GRCm39) V278D probably damaging Het
Akap12 G T 10: 4,307,122 (GRCm39) E1311* probably null Het
Ankdd1a T A 9: 65,415,957 (GRCm39) D186V probably benign Het
Birc6 A G 17: 74,869,090 (GRCm39) E346G probably damaging Het
Brd10 A G 19: 29,696,508 (GRCm39) L995S possibly damaging Het
Ccr7 A C 11: 99,036,130 (GRCm39) V264G probably damaging Het
Col7a1 T C 9: 108,812,987 (GRCm39) probably null Het
Coq8a T C 1: 180,006,633 (GRCm39) T132A probably benign Het
Cplane1 A G 15: 8,281,690 (GRCm39) E2843G unknown Het
Cyp2b10 G A 7: 25,616,780 (GRCm39) S407N probably benign Het
Ddi2 A G 4: 141,412,561 (GRCm39) V117A probably benign Het
Ddx42 G A 11: 106,129,970 (GRCm39) V421I probably damaging Het
Dip2c T A 13: 9,601,896 (GRCm39) L285* probably null Het
Dip2c C T 13: 9,684,868 (GRCm39) S1232F probably damaging Het
Dner T A 1: 84,454,123 (GRCm39) R402* probably null Het
Dpysl3 A T 18: 43,486,956 (GRCm39) I317N probably damaging Het
Dusp23 T A 1: 172,459,224 (GRCm39) Y146F probably benign Het
Eef1a2 C A 2: 180,790,421 (GRCm39) V412L possibly damaging Het
Epha7 C T 4: 28,821,489 (GRCm39) T218I probably damaging Het
Gigyf2 T A 1: 87,334,858 (GRCm39) C284S probably damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hao2 T A 3: 98,784,068 (GRCm39) E327V probably damaging Het
Hdhd5 A G 6: 120,487,130 (GRCm39) V409A probably damaging Het
Kif9 T C 9: 110,323,690 (GRCm39) Y236H probably damaging Het
Kri1 T C 9: 21,199,050 (GRCm39) probably benign Het
Lig4 A T 8: 10,021,098 (GRCm39) V894E probably damaging Het
Lrriq1 T C 10: 103,023,319 (GRCm39) N982S probably damaging Het
Mapk8 T C 14: 33,132,841 (GRCm39) I32V possibly damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mstn T C 1: 53,101,100 (GRCm39) I59T probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Notch4 G T 17: 34,803,774 (GRCm39) E1515* probably null Het
Npw A C 17: 24,877,029 (GRCm39) V124G probably benign Het
Nxph3 A G 11: 95,402,244 (GRCm39) S57P probably damaging Het
Opn4 A T 14: 34,315,864 (GRCm39) L390M probably benign Het
Or12e10 G A 2: 87,640,787 (GRCm39) D208N possibly damaging Het
Or52e4 T C 7: 104,705,771 (GRCm39) I106T probably damaging Het
Or5b95 G T 19: 12,658,112 (GRCm39) L213F probably benign Het
Or5g23 T C 2: 85,438,592 (GRCm39) I221V possibly damaging Het
Or5p68 T A 7: 107,945,295 (GRCm39) N298Y possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g2e G A 4: 138,607,986 (GRCm39) C62Y probably damaging Het
Plcb4 G A 2: 135,752,114 (GRCm39) V107M probably damaging Het
Pramel33 T A 5: 93,632,233 (GRCm39) N107I probably damaging Het
Prorsd1 A C 11: 29,464,486 (GRCm39) probably benign Het
Prox2 A G 12: 85,134,165 (GRCm39) L587P probably benign Het
Prr22 A G 17: 57,078,345 (GRCm39) D166G possibly damaging Het
Ptprz1 G A 6: 23,002,686 (GRCm39) R1592Q probably benign Het
Rarg C G 15: 102,150,350 (GRCm39) R74P probably damaging Het
Rcan1 A G 16: 92,194,251 (GRCm39) V54A probably benign Het
Rmdn2 A G 17: 79,928,739 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Serpina1a T C 12: 103,820,092 (GRCm39) T385A probably benign Het
Smg1 C A 7: 117,767,091 (GRCm39) probably benign Het
Spock3 A G 8: 63,808,415 (GRCm39) *437W probably null Het
Sugct T A 13: 17,728,965 (GRCm39) Q220H probably benign Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tnks C A 8: 35,301,647 (GRCm39) R1274I probably damaging Het
Trp53bp1 C T 2: 121,038,521 (GRCm39) R1439H probably damaging Het
Vmn1r16 G T 6: 57,299,869 (GRCm39) S251* probably null Het
Vmn2r15 T A 5: 109,441,180 (GRCm39) Q226L probably damaging Het
Vmn2r67 T G 7: 84,804,953 (GRCm39) Y53S possibly damaging Het
Vmn2r99 A G 17: 19,598,372 (GRCm39) N132S probably benign Het
Wdr73 T G 7: 80,541,604 (GRCm39) T313P probably benign Het
Zfp65 C T 13: 67,856,640 (GRCm39) R213Q probably 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
R5302:Slc44a3 UTSW 3 121,303,962 (GRCm39) missense probably damaging 1.00
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
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'- AGCCCAACACTTGTGTCAGG -3'
(R):5'- CTCACTTCTAACTCCAGGCG -3'

Sequencing Primer
(F):5'- AGGTACTGGGTCCTCAGTGC -3'
(R):5'- TCGCACAGTGGTCAGGAG -3'
Posted On 2019-05-13