Incidental Mutation 'R0894:Slc44a4'
ID 83719
Institutional Source Beutler Lab
Gene Symbol Slc44a4
Ensembl Gene ENSMUSG00000007034
Gene Name solute carrier family 44, member 4
Synonyms NG22, 2210409B01Rik
MMRRC Submission 039057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0894 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35133442-35149412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35147466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 583 (L583P)
Ref Sequence ENSEMBL: ENSMUSP00000007249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]
AlphaFold Q91VA1
Predicted Effect possibly damaging
Transcript: ENSMUST00000007249
AA Change: L583P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: L583P

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 possibly damaging
Transcript: ENSMUST00000169230
AA Change: L431P

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: L431P

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: ENSMUST00000173269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174715
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 97% (102/105)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,726 (GRCm39) S1044G probably benign Het
Aanat A G 11: 116,487,730 (GRCm39) H143R probably benign Het
Abca8a A G 11: 109,941,792 (GRCm39) I1159T probably benign Het
Abcb1a G T 5: 8,724,856 (GRCm39) probably benign Het
Abcc1 T C 16: 14,283,001 (GRCm39) V1159A possibly damaging Het
Akr1e1 T A 13: 4,645,071 (GRCm39) Q204L probably damaging Het
Alk T C 17: 72,202,930 (GRCm39) Y1135C probably damaging Het
Atad2b C T 12: 5,015,915 (GRCm39) T547I probably damaging Het
Brd10 T C 19: 29,697,974 (GRCm39) probably benign Het
C030005K15Rik A T 10: 97,561,648 (GRCm39) S28T unknown Het
Cdk5rap3 A G 11: 96,799,654 (GRCm39) L387P probably damaging Het
Cfap95 T C 19: 23,630,062 (GRCm39) E10G unknown Het
Cfap96 A G 8: 46,409,497 (GRCm39) F274S probably damaging Het
Clec4f T A 6: 83,629,979 (GRCm39) N193I probably damaging Het
Col4a4 A T 1: 82,507,377 (GRCm39) probably null Het
Cplx4 T G 18: 66,090,116 (GRCm39) D101A possibly damaging Het
Cpne8 A T 15: 90,533,474 (GRCm39) D50E probably damaging Het
Csmd3 G T 15: 47,721,316 (GRCm39) D1542E possibly damaging Het
Ctdp1 A G 18: 80,512,736 (GRCm39) V9A probably benign Het
Ctnnd2 A T 15: 30,332,301 (GRCm39) probably benign Het
Cyp7b1 C T 3: 18,151,674 (GRCm39) A180T probably benign Het
Dcun1d5 C T 9: 7,203,379 (GRCm39) probably benign Het
Dgat1 G T 15: 76,387,199 (GRCm39) L363I possibly damaging Het
Dipk2b T A X: 18,289,791 (GRCm39) I224F possibly damaging Het
Dlg1 T A 16: 31,561,965 (GRCm39) H120Q probably benign Het
Dnah6 T C 6: 73,101,740 (GRCm39) N1928S probably benign Het
Dnai4 T C 4: 102,906,583 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,041,734 (GRCm39) probably benign Het
Ednra T G 8: 78,446,649 (GRCm39) probably benign Het
Efcab6 A T 15: 83,802,493 (GRCm39) C845S probably benign Het
Egln1 A T 8: 125,642,435 (GRCm39) C303S probably damaging Het
Eomes T C 9: 118,311,368 (GRCm39) probably null Het
Epha1 A G 6: 42,340,756 (GRCm39) V568A probably benign Het
Ercc6 T A 14: 32,238,985 (GRCm39) N24K probably benign Het
Esco2 T C 14: 66,064,726 (GRCm39) Q338R probably benign Het
Fbxo46 T C 7: 18,869,654 (GRCm39) V91A probably damaging Het
Fryl A T 5: 73,198,675 (GRCm39) probably benign Het
Gab3 A C X: 74,077,024 (GRCm39) D43E probably damaging Het
Gltpd2 T A 11: 70,410,535 (GRCm39) probably benign Het
Gm17333 G T 16: 77,649,711 (GRCm39) noncoding transcript Het
Gm7353 T C 7: 3,160,570 (GRCm39) noncoding transcript Het
Grik4 T C 9: 42,599,405 (GRCm39) probably benign Het
Gtpbp2 G T 17: 46,476,895 (GRCm39) A358S possibly damaging Het
Hyls1 C T 9: 35,472,528 (GRCm39) C296Y probably damaging Het
Igf2r C T 17: 12,910,988 (GRCm39) M1943I probably benign Het
Iqca1l T C 5: 24,755,731 (GRCm39) probably null Het
Ireb2 T A 9: 54,803,861 (GRCm39) N517K probably damaging Het
Itga10 A G 3: 96,560,976 (GRCm39) S614G possibly damaging Het
Kdm2b A G 5: 123,122,523 (GRCm39) probably null Het
Kif17 T C 4: 138,025,542 (GRCm39) M948T possibly damaging Het
Klhl33 A T 14: 51,129,583 (GRCm39) N347K probably damaging Het
Llph T A 10: 120,064,086 (GRCm39) C67* probably null Het
Lrrn3 T C 12: 41,504,033 (GRCm39) T95A probably damaging Het
Map3k12 C A 15: 102,410,613 (GRCm39) A455S probably damaging Het
Mex3d T C 10: 80,217,376 (GRCm39) T149A probably benign Het
Myo7b A G 18: 32,133,123 (GRCm39) W409R probably damaging Het
Nbea A G 3: 55,916,761 (GRCm39) M833T possibly damaging Het
Ncapg A G 5: 45,837,236 (GRCm39) T436A probably null Het
Nkx1-2 C A 7: 132,201,042 (GRCm39) D72Y probably null Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2d3b T A 7: 106,514,317 (GRCm39) I304K probably benign Het
Or6c217 T A 10: 129,737,751 (GRCm39) N276I probably damaging Het
Pcdh15 A G 10: 74,460,087 (GRCm39) Y1308C probably damaging Het
Pcnx2 A G 8: 126,613,665 (GRCm39) probably benign Het
Pcsk1 G A 13: 75,246,096 (GRCm39) G158D probably damaging Het
Phkb A T 8: 86,744,070 (GRCm39) D573V probably damaging Het
Pik3r4 A G 9: 105,544,970 (GRCm39) K150E possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Ppp4r4 C T 12: 103,566,754 (GRCm39) A67V probably damaging Het
Prex2 A G 1: 11,252,122 (GRCm39) T1056A probably benign Het
Prkca A T 11: 107,903,518 (GRCm39) Y285N possibly damaging Het
Psd T C 19: 46,301,880 (GRCm39) E903G probably damaging Het
Psg19 T C 7: 18,527,987 (GRCm39) E252G probably benign Het
Psg20 T A 7: 18,414,969 (GRCm39) K306* probably null Het
Pygl T G 12: 70,241,148 (GRCm39) probably benign Het
Rasgrf2 A G 13: 92,130,890 (GRCm39) S724P probably damaging Het
Reck C A 4: 43,922,967 (GRCm39) A414D probably damaging Het
Scn10a C A 9: 119,459,213 (GRCm39) V1150L probably damaging Het
Shc2 A T 10: 79,465,751 (GRCm39) I187N probably damaging Het
Sipa1l3 T A 7: 29,086,716 (GRCm39) K625* probably null Het
Slc5a11 G C 7: 122,857,643 (GRCm39) R244P possibly damaging Het
Slfn8 T A 11: 82,894,407 (GRCm39) Q744L probably benign Het
Snx2 G T 18: 53,309,488 (GRCm39) V13L probably benign Het
Spmip5 A T 19: 58,776,015 (GRCm39) L138Q probably damaging Het
Spsb1 C T 4: 149,990,872 (GRCm39) probably null Het
Stfa2l1 A T 16: 35,977,228 (GRCm39) I8L probably benign Het
Svil G T 18: 5,097,494 (GRCm39) R1659L probably damaging Het
Tbccd1 A T 16: 22,640,995 (GRCm39) L461M probably benign Het
Tmem9 A T 1: 135,961,926 (GRCm39) T174S possibly damaging Het
Tnks2 T C 19: 36,867,450 (GRCm39) probably null Het
Tnrc18 C A 5: 142,800,869 (GRCm39) V30L probably benign Het
Tomm7 A G 5: 24,049,025 (GRCm39) F16S probably damaging Het
Ttf2 A G 3: 100,876,865 (GRCm39) probably benign Het
Ubr7 C A 12: 102,735,450 (GRCm39) T303N probably damaging Het
Ushbp1 A T 8: 71,842,868 (GRCm39) probably null Het
Vmn1r177 C A 7: 23,565,475 (GRCm39) V134F probably benign Het
Vmn2r12 A G 5: 109,235,716 (GRCm39) probably null Het
Vmn2r53 T G 7: 12,335,141 (GRCm39) H173P probably benign Het
Yars1 A T 4: 129,090,948 (GRCm39) M119L probably damaging Het
Zcrb1 A T 15: 93,295,038 (GRCm39) probably benign Het
Zfp267 T A 3: 36,218,935 (GRCm39) Y319* probably null Het
Zfp319 C A 8: 96,056,250 (GRCm39) probably benign Het
Zfp783 C G 6: 47,920,320 (GRCm39) noncoding transcript Het
Zfyve26 A G 12: 79,320,372 (GRCm39) I1024T possibly damaging 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
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
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 PCR Primer
(F):5'- CATCATCTGCTGCTTCAAGTGTTGC -3'
(R):5'- TGACTTTATCCAGGACGACGACCC -3'

Sequencing Primer
(F):5'- TTAAGTTCCTCAACCGCAATG -3'
(R):5'- CCTACATAGAAGTCAGGACAGACTG -3'
Posted On 2013-11-08