Incidental Mutation 'IGL01527:Slc44a3'
ID89603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc44a3
Ensembl Gene ENSMUSG00000039865
Gene Namesolute carrier family 44, member 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01527
Quality Score
Status
Chromosome3
Chromosomal Location121459528-121532404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121527128 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 75 (C75R)
Ref Sequence ENSEMBL: ENSMUSP00000040210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039197]
AlphaFold Q921V7
Predicted Effect probably damaging
Transcript: ENSMUST00000039197
AA Change: C75R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: C75R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199889
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,567,833 probably null Het
Abca13 T A 11: 9,290,788 W884R possibly damaging Het
Ahi1 T C 10: 20,960,085 probably benign Het
Ankfn1 G T 11: 89,391,639 P394Q probably benign Het
AW549877 T C 15: 3,988,683 Y170C probably damaging Het
Cacnb2 T C 2: 14,984,270 I393T possibly damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col22a1 T C 15: 71,907,031 E269G probably damaging Het
Cyp24a1 A G 2: 170,496,566 L70P probably damaging Het
Cyp8b1 T C 9: 121,914,995 K424E probably damaging Het
Dicer1 G A 12: 104,691,610 Q1902* probably null Het
Dst T A 1: 34,247,653 L544Q probably damaging Het
Esrp2 T C 8: 106,132,233 T591A probably benign Het
Gap43 C T 16: 42,292,153 E82K probably benign Het
Kif17 G A 4: 138,269,086 V125I probably benign Het
Lancl2 T C 6: 57,732,322 S370P probably damaging Het
Macf1 T C 4: 123,493,160 I203V possibly damaging Het
Mphosph9 A G 5: 124,283,624 probably benign Het
Ncapg A G 5: 45,672,384 I143V possibly damaging Het
Nr3c1 A G 18: 39,486,637 V199A probably benign Het
Obscn T A 11: 59,064,417 N3890I possibly damaging Het
Olfr130 A G 17: 38,068,095 N308S probably benign Het
Olfr669 T A 7: 104,938,991 V155E possibly damaging Het
Olfr92 A T 17: 37,111,809 Y58N probably damaging Het
Olfr951 A G 9: 39,393,818 H6R probably benign Het
Palmd C A 3: 116,927,188 E166* probably null Het
Pdzd2 T C 15: 12,445,664 E327G probably damaging Het
Pex13 T C 11: 23,656,111 T40A probably benign Het
Pkd2 T C 5: 104,498,884 probably benign Het
Plb1 A G 5: 32,317,123 T643A probably damaging Het
Prlr T A 15: 10,329,171 D577E probably benign Het
Susd6 A T 12: 80,874,319 N230I possibly damaging Het
Tbx10 A G 19: 3,998,227 R251G probably damaging Het
Ttc30a1 T C 2: 75,980,516 I408V probably benign Het
Uap1l1 A G 2: 25,363,804 probably null Het
Ugt2b5 A G 5: 87,136,209 V308A possibly damaging Het
Usp28 C A 9: 49,025,873 H147Q probably benign Het
Vmn1r203 T C 13: 22,524,277 I76T possibly damaging Het
Vmn2r104 A G 17: 20,042,896 I101T possibly damaging Het
Vmn2r17 T A 5: 109,453,140 L768H probably damaging Het
Other mutations in Slc44a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Slc44a3 APN 3 121527193 missense probably damaging 1.00
IGL02304:Slc44a3 APN 3 121527074 missense possibly damaging 0.48
IGL02419:Slc44a3 APN 3 121490257 missense probably benign 0.03
IGL02836:Slc44a3 APN 3 121531717 missense probably damaging 1.00
IGL02937:Slc44a3 APN 3 121510321 splice site probably benign
IGL03219:Slc44a3 APN 3 121463520 missense probably damaging 1.00
BB009:Slc44a3 UTSW 3 121512360 missense possibly damaging 0.86
BB019:Slc44a3 UTSW 3 121512360 missense possibly damaging 0.86
R0597:Slc44a3 UTSW 3 121460070 missense probably benign
R0668:Slc44a3 UTSW 3 121510203 missense probably damaging 0.96
R1355:Slc44a3 UTSW 3 121531671 missense probably damaging 1.00
R1608:Slc44a3 UTSW 3 121497847 nonsense probably null
R1617:Slc44a3 UTSW 3 121461265 missense probably benign 0.19
R1912:Slc44a3 UTSW 3 121532166 missense probably benign 0.00
R2027:Slc44a3 UTSW 3 121463410 splice site probably benign
R2087:Slc44a3 UTSW 3 121525670 missense probably damaging 0.99
R2199:Slc44a3 UTSW 3 121513744 missense probably benign 0.02
R4707:Slc44a3 UTSW 3 121527074 missense possibly damaging 0.48
R4736:Slc44a3 UTSW 3 121510206 missense probably damaging 0.97
R4784:Slc44a3 UTSW 3 121527074 missense possibly damaging 0.48
R4785:Slc44a3 UTSW 3 121527074 missense possibly damaging 0.48
R5302:Slc44a3 UTSW 3 121510313 missense probably damaging 1.00
R5835:Slc44a3 UTSW 3 121527200 missense probably benign 0.03
R6252:Slc44a3 UTSW 3 121513737 missense probably damaging 0.99
R6991:Slc44a3 UTSW 3 121532165 missense probably benign 0.01
R7197:Slc44a3 UTSW 3 121525762 missense probably benign 0.02
R7227:Slc44a3 UTSW 3 121510230 missense possibly damaging 0.93
R7272:Slc44a3 UTSW 3 121461115 missense probably damaging 0.99
R7932:Slc44a3 UTSW 3 121512360 missense possibly damaging 0.86
R8104:Slc44a3 UTSW 3 121497872 missense probably benign 0.01
R8529:Slc44a3 UTSW 3 121525685 missense probably benign 0.36
R8679:Slc44a3 UTSW 3 121490269 missense probably damaging 1.00
R8856:Slc44a3 UTSW 3 121513807 missense probably damaging 1.00
R9053:Slc44a3 UTSW 3 121527190 missense probably damaging 1.00
R9121:Slc44a3 UTSW 3 121461137 missense probably benign 0.00
Z1176:Slc44a3 UTSW 3 121532251 start gained probably benign
Z1177:Slc44a3 UTSW 3 121497750 missense probably benign 0.07
Posted On2013-12-03