Incidental Mutation 'R6947:Slc44a4'
ID 540952
Institutional Source Beutler Lab
Gene Symbol Slc44a4
Ensembl Gene ENSMUSG00000007034
Gene Name solute carrier family 44, member 4
Synonyms NG22, 2210409B01Rik
MMRRC Submission 045060-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6947 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35133442-35149412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35147044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 358 (Q358L)
Ref Sequence ENSEMBL: ENSMUSP00000132965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]
AlphaFold Q91VA1
Predicted Effect probably null
Transcript: ENSMUST00000007249
AA Change: Q510L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: Q510L

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 probably benign
Transcript: ENSMUST00000007253
SMART Domains Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
Pfam:BNR_3 74 249 1e-16 PFAM
Pfam:BNR_2 82 377 1.8e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169230
AA Change: Q358L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: Q358L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.0%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,073,857 (GRCm39) probably null Het
Adcy4 T C 14: 56,015,848 (GRCm39) T414A possibly damaging Het
Bop1 A G 15: 76,338,188 (GRCm39) F561L probably damaging Het
Ccdc18 T C 5: 108,309,401 (GRCm39) V332A probably benign Het
Cep290 A G 10: 100,365,918 (GRCm39) T1042A probably damaging Het
Cnot8 G T 11: 58,008,331 (GRCm39) V266L probably benign Het
Cxxc4 C T 3: 133,946,277 (GRCm39) S286F possibly damaging Het
Cyp2d12 A T 15: 82,443,248 (GRCm39) I386L probably benign Het
Dgka A T 10: 128,568,884 (GRCm39) I227N probably damaging Het
Eif2d T C 1: 131,092,404 (GRCm39) V354A probably benign Het
Fgr T A 4: 132,722,380 (GRCm39) probably null Het
Idnk A G 13: 58,308,055 (GRCm39) probably null Het
Kmt2e T C 5: 23,702,543 (GRCm39) S952P probably damaging Het
Kng1 A G 16: 22,896,124 (GRCm39) H343R probably benign Het
Lgals8 G A 13: 12,469,682 (GRCm39) probably benign Het
Lrit3 T A 3: 129,582,883 (GRCm39) Q368L probably benign Het
Lypd8 A T 11: 58,273,592 (GRCm39) T24S probably benign Het
Map3k4 G A 17: 12,479,456 (GRCm39) Q704* probably null Het
Mcm3ap A G 10: 76,351,500 (GRCm39) I1948V probably benign Het
Mettl25 A G 10: 105,662,053 (GRCm39) F306L probably benign Het
Mos A C 4: 3,871,585 (GRCm39) V77G probably damaging Het
Muc4 C T 16: 32,596,177 (GRCm39) R3130C possibly damaging Het
Naxd T C 8: 11,552,757 (GRCm39) V59A probably damaging Het
Nup107 A G 10: 117,593,179 (GRCm39) V833A probably benign Het
Or1p4-ps1 C T 11: 74,208,370 (GRCm39) S173L unknown Het
Or5m10b T C 2: 85,699,271 (GRCm39) F112L probably benign Het
Pcnx2 C T 8: 126,577,021 (GRCm39) probably null Het
Pde10a T A 17: 9,188,424 (GRCm39) I908N probably damaging Het
Plcb1 A G 2: 135,228,075 (GRCm39) K1058R probably benign Het
Rad17 A T 13: 100,759,383 (GRCm39) F548Y probably damaging Het
Rad54b T G 4: 11,569,859 (GRCm39) S58R possibly damaging Het
Rbm20 G A 19: 53,839,696 (GRCm39) G895D probably damaging Het
Rgs22 T C 15: 36,104,036 (GRCm39) probably null Het
Rhobtb3 A G 13: 76,058,785 (GRCm39) S338P probably benign Het
Ruvbl2 A G 7: 45,074,373 (GRCm39) probably null Het
Slc16a12 A G 19: 34,650,007 (GRCm39) F343L probably benign Het
Slc22a28 A G 19: 8,041,875 (GRCm39) L444P possibly damaging Het
Sowaha A G 11: 53,369,225 (GRCm39) F504L probably benign Het
Syne1 A G 10: 5,125,789 (GRCm39) L6035P probably damaging Het
Thbs2 A T 17: 14,910,029 (GRCm39) M190K possibly damaging Het
Tmem171 A G 13: 98,824,950 (GRCm39) F227L possibly damaging Het
Trp53 A G 11: 69,479,307 (GRCm39) K162E possibly damaging Het
Ttn T A 2: 76,724,732 (GRCm39) K2098* probably null Het
Usp30 T C 5: 114,241,821 (GRCm39) S88P probably benign Het
Zfp276 C A 8: 123,981,643 (GRCm39) D63E 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
R3732:Slc44a4 UTSW 17 35,140,537 (GRCm39) synonymous silent
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
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 PCR Primer
(F):5'- TACTGGGCCTTTCACAAGCC -3'
(R):5'- GCAACACTTGAAGCAGCAG -3'

Sequencing Primer
(F):5'- GCCTTTCACAAGCCTCGAG -3'
(R):5'- CACTTGAAGCAGCAGATGATG -3'
Posted On 2018-11-28