Incidental Mutation 'IGL02119:Slc44a4'
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ID280497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc44a4
Ensembl Gene ENSMUSG00000007034
Gene Namesolute carrier family 44, member 4
Synonyms2210409B01Rik, NG22
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02119
Quality Score
Status
Chromosome17
Chromosomal Location34914466-34930436 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 34928661 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 441 (D441A)
Ref Sequence ENSEMBL: ENSMUSP00000132965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]
Predicted Effect probably damaging
Transcript: ENSMUST00000007249
AA Change: D593A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: D593A

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 damaging
Transcript: ENSMUST00000169230
AA Change: D441A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: D441A

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,328,000 probably null Het
Acsbg2 T C 17: 56,868,459 probably benign Het
Ap3b1 T C 13: 94,462,403 V495A probably benign Het
Astn1 T C 1: 158,511,154 probably benign Het
Bora A G 14: 99,053,538 D94G probably damaging Het
Bpifb9b G T 2: 154,313,624 V348L possibly damaging Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cyp2d11 A C 15: 82,390,064 I372S probably damaging Het
Dennd2c T A 3: 103,137,243 V380D probably damaging Het
Fat4 C T 3: 38,982,939 A3580V probably benign Het
Filip1 A G 9: 79,818,266 S1024P probably benign Het
Flnc G A 6: 29,447,512 E1105K probably damaging Het
Gbp4 T A 5: 105,121,042 E415V probably benign Het
Gdap1l1 T A 2: 163,453,668 F224Y probably damaging Het
Gm11146 A T 16: 77,588,610 probably null Het
Gsn G T 2: 35,302,495 R485L probably damaging Het
Havcr1 A G 11: 46,775,493 Y261C probably damaging Het
Maneal A T 4: 124,859,167 I229N probably benign Het
Med24 A T 11: 98,728,835 M27K probably benign Het
Nipsnap2 T A 5: 129,747,992 probably benign Het
Noa1 T A 5: 77,307,579 Q430L probably benign Het
Olfr1099 T C 2: 86,959,183 I92V probably benign Het
Olfr365 C A 2: 37,201,269 S9R possibly damaging Het
Olfr74 T A 2: 87,974,410 N85I probably benign Het
Olfr834 T C 9: 18,988,612 V208A probably benign Het
Pde3a T A 6: 141,459,803 S460R probably damaging Het
Pdzd8 T C 19: 59,300,490 Q826R possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pikfyve T A 1: 65,272,571 I1989N probably damaging Het
Poldip2 T A 11: 78,517,908 F200I probably damaging Het
Prodh2 T C 7: 30,506,504 V208A probably damaging Het
Ranbp10 T C 8: 105,827,003 D89G probably damaging Het
Rbm33 T A 5: 28,339,017 S90R probably damaging Het
Slc4a10 A T 2: 62,228,670 I174F probably damaging Het
Smim17 T C 7: 6,427,161 probably benign Het
Tln1 T C 4: 43,546,760 E872G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Top2b T C 14: 16,406,733 L625S probably damaging Het
Vmn2r59 A G 7: 42,046,169 V273A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Whrn T G 4: 63,435,487 K348Q probably damaging Het
Zc3h14 T C 12: 98,763,895 V399A probably benign Het
Other mutations in Slc44a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Slc44a4 APN 17 34930240 utr 3 prime probably benign
IGL01097:Slc44a4 APN 17 34921569 missense probably damaging 0.97
IGL01296:Slc44a4 APN 17 34921698 missense probably benign 0.39
IGL01606:Slc44a4 APN 17 34929018 missense probably damaging 1.00
IGL01759:Slc44a4 APN 17 34921243 missense probably benign 0.00
IGL02026:Slc44a4 APN 17 34921856 splice site probably benign
IGL02338:Slc44a4 APN 17 34923810 missense possibly damaging 0.90
IGL02383:Slc44a4 APN 17 34927710 missense probably benign 0.00
IGL02526:Slc44a4 APN 17 34928487 missense probably damaging 0.99
IGL02744:Slc44a4 APN 17 34927800 missense probably damaging 1.00
IGL02754:Slc44a4 APN 17 34921303 missense probably damaging 0.98
ANU74:Slc44a4 UTSW 17 34921578 missense probably damaging 1.00
PIT4142001:Slc44a4 UTSW 17 34921275 missense probably damaging 0.99
R0007:Slc44a4 UTSW 17 34921254 missense probably damaging 0.99
R0007:Slc44a4 UTSW 17 34921254 missense probably damaging 0.99
R0452:Slc44a4 UTSW 17 34928095 missense possibly damaging 0.82
R0894:Slc44a4 UTSW 17 34928490 missense possibly damaging 0.92
R1136:Slc44a4 UTSW 17 34928022 missense probably damaging 1.00
R1224:Slc44a4 UTSW 17 34921868 missense probably benign 0.18
R1779:Slc44a4 UTSW 17 34921925 missense probably damaging 1.00
R2679:Slc44a4 UTSW 17 34923423 splice site probably benign
R3499:Slc44a4 UTSW 17 34921680 missense probably benign 0.02
R3732:Slc44a4 UTSW 17 34921561 synonymous silent
R4084:Slc44a4 UTSW 17 34917347 missense probably damaging 1.00
R4197:Slc44a4 UTSW 17 34918252 missense probably benign 0.12
R4536:Slc44a4 UTSW 17 34923839 missense probably damaging 1.00
R4547:Slc44a4 UTSW 17 34927755 missense probably damaging 1.00
R5093:Slc44a4 UTSW 17 34921243 missense probably benign 0.00
R6005:Slc44a4 UTSW 17 34923454 missense possibly damaging 0.69
R6396:Slc44a4 UTSW 17 34928884 nonsense probably null
R6660:Slc44a4 UTSW 17 34930225 missense probably damaging 0.99
R6860:Slc44a4 UTSW 17 34921068 missense probably damaging 1.00
R6863:Slc44a4 UTSW 17 34923822 missense probably benign 0.41
R6947:Slc44a4 UTSW 17 34928068 missense probably null 1.00
R7250:Slc44a4 UTSW 17 34918544 critical splice donor site probably null
R7297:Slc44a4 UTSW 17 34927912 missense probably damaging 0.98
R7425:Slc44a4 UTSW 17 34921691 missense possibly damaging 0.94
R7696:Slc44a4 UTSW 17 34928700 missense probably damaging 1.00
R7871:Slc44a4 UTSW 17 34923852 critical splice donor site probably null
R8244:Slc44a4 UTSW 17 34921572 missense probably damaging 1.00
R8331:Slc44a4 UTSW 17 34921569 missense probably damaging 1.00
Posted On2015-04-16