Incidental Mutation 'IGL02383:Slc44a4'
ID 291432
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc44a4
Ensembl Gene ENSMUSG00000007034
Gene Name solute carrier family 44, member 4
Synonyms NG22, 2210409B01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02383
Quality Score
Status
Chromosome 17
Chromosomal Location 35133442-35149412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35146686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 422 (V422I)
Ref Sequence ENSEMBL: ENSMUSP00000007249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]
AlphaFold Q91VA1
Predicted Effect probably benign
Transcript: ENSMUST00000007249
AA Change: V422I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: V422I

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 benign
Transcript: ENSMUST00000169230
AA Change: V270I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: V270I

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
Coding Region Coverage
Validation Efficiency
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
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Or5b94 A G 19: 12,651,899 (GRCm39) D110G probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S 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
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
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
Posted On 2015-04-16