Incidental Mutation 'R3732:Slc44a4'
ID 473426
Institutional Source Beutler Lab
Gene Symbol Slc44a4
Ensembl Gene ENSMUSG00000007034
Gene Name solute carrier family 44, member 4
Synonyms NG22, 2210409B01Rik
MMRRC Submission 040720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3732 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35133442-35149412 bp(+) (GRCm39)
Type of Mutation synonymous
DNA Base Change (assembly) G to A at 35140537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000169230]
AlphaFold Q91VA1
Predicted Effect silent
Transcript: ENSMUST00000007249
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
low complexity region 93 102 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
transmembrane domain 250 272 N/A INTRINSIC
Pfam:Choline_transpo 311 674 5.4e-119 PFAM
Predicted Effect silent
Transcript: ENSMUST00000169230
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

DomainStartEndE-ValueType
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
Pfam:Choline_transpo 157 524 3.9e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173664
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Kcnk15 A G 2: 163,695,733 (GRCm39) K22E probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Ppp1r9a T C 6: 4,906,259 (GRCm39) probably benign Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Shf T A 2: 122,175,688 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Twf1 A C 15: 94,482,295 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vps50 T C 6: 3,519,243 (GRCm39) silent Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign Het
Other mutations in Slc44a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Slc44a4 APN 17 35,149,216 (GRCm39) utr 3 prime probably benign
IGL01097:Slc44a4 APN 17 35,140,545 (GRCm39) missense probably damaging 0.97
IGL01296:Slc44a4 APN 17 35,140,674 (GRCm39) missense probably benign 0.39
IGL01606:Slc44a4 APN 17 35,147,994 (GRCm39) missense probably damaging 1.00
IGL01759:Slc44a4 APN 17 35,140,219 (GRCm39) missense probably benign 0.00
IGL02026:Slc44a4 APN 17 35,140,832 (GRCm39) splice site probably benign
IGL02119:Slc44a4 APN 17 35,147,637 (GRCm39) missense probably damaging 1.00
IGL02338:Slc44a4 APN 17 35,142,786 (GRCm39) missense possibly damaging 0.90
IGL02383:Slc44a4 APN 17 35,146,686 (GRCm39) missense probably benign 0.00
IGL02526:Slc44a4 APN 17 35,147,463 (GRCm39) missense probably damaging 0.99
IGL02744:Slc44a4 APN 17 35,146,776 (GRCm39) missense probably damaging 1.00
IGL02754:Slc44a4 APN 17 35,140,279 (GRCm39) missense probably damaging 0.98
ANU74:Slc44a4 UTSW 17 35,140,554 (GRCm39) missense probably damaging 1.00
PIT4142001:Slc44a4 UTSW 17 35,140,251 (GRCm39) missense probably damaging 0.99
R0007:Slc44a4 UTSW 17 35,140,230 (GRCm39) missense probably damaging 0.99
R0007:Slc44a4 UTSW 17 35,140,230 (GRCm39) missense probably damaging 0.99
R0452:Slc44a4 UTSW 17 35,147,071 (GRCm39) missense possibly damaging 0.82
R0894:Slc44a4 UTSW 17 35,147,466 (GRCm39) missense possibly damaging 0.92
R1136:Slc44a4 UTSW 17 35,146,998 (GRCm39) missense probably damaging 1.00
R1224:Slc44a4 UTSW 17 35,140,844 (GRCm39) missense probably benign 0.18
R1779:Slc44a4 UTSW 17 35,140,901 (GRCm39) missense probably damaging 1.00
R2679:Slc44a4 UTSW 17 35,142,399 (GRCm39) splice site probably benign
R3499:Slc44a4 UTSW 17 35,140,656 (GRCm39) missense probably benign 0.02
R4084:Slc44a4 UTSW 17 35,136,323 (GRCm39) missense probably damaging 1.00
R4197:Slc44a4 UTSW 17 35,137,228 (GRCm39) missense probably benign 0.12
R4536:Slc44a4 UTSW 17 35,142,815 (GRCm39) missense probably damaging 1.00
R4547:Slc44a4 UTSW 17 35,146,731 (GRCm39) missense probably damaging 1.00
R5093:Slc44a4 UTSW 17 35,140,219 (GRCm39) missense probably benign 0.00
R6005:Slc44a4 UTSW 17 35,142,430 (GRCm39) missense possibly damaging 0.69
R6396:Slc44a4 UTSW 17 35,147,860 (GRCm39) nonsense probably null
R6660:Slc44a4 UTSW 17 35,149,201 (GRCm39) missense probably damaging 0.99
R6860:Slc44a4 UTSW 17 35,140,044 (GRCm39) missense probably damaging 1.00
R6863:Slc44a4 UTSW 17 35,142,798 (GRCm39) missense probably benign 0.41
R6947:Slc44a4 UTSW 17 35,147,044 (GRCm39) missense probably null 1.00
R7250:Slc44a4 UTSW 17 35,137,520 (GRCm39) critical splice donor site probably null
R7297:Slc44a4 UTSW 17 35,146,888 (GRCm39) missense probably damaging 0.98
R7425:Slc44a4 UTSW 17 35,140,667 (GRCm39) missense possibly damaging 0.94
R7696:Slc44a4 UTSW 17 35,147,676 (GRCm39) missense probably damaging 1.00
R7871:Slc44a4 UTSW 17 35,142,828 (GRCm39) critical splice donor site probably null
R8244:Slc44a4 UTSW 17 35,140,548 (GRCm39) missense probably damaging 1.00
R8331:Slc44a4 UTSW 17 35,140,545 (GRCm39) missense probably damaging 1.00
R8681:Slc44a4 UTSW 17 35,147,253 (GRCm39) missense possibly damaging 0.91
R8929:Slc44a4 UTSW 17 35,136,508 (GRCm39) missense probably damaging 1.00
R8973:Slc44a4 UTSW 17 35,140,538 (GRCm39) missense probably damaging 1.00
R9345:Slc44a4 UTSW 17 35,140,219 (GRCm39) missense probably benign 0.03
R9610:Slc44a4 UTSW 17 35,147,793 (GRCm39) missense probably benign 0.18
R9611:Slc44a4 UTSW 17 35,147,793 (GRCm39) missense probably benign 0.18
R9729:Slc44a4 UTSW 17 35,140,670 (GRCm39) missense probably benign 0.01
R9755:Slc44a4 UTSW 17 35,136,331 (GRCm39) missense probably benign
Predicted Primers
Posted On 2017-04-14