Incidental Mutation 'IGL00769:Slc4a1ap'
ID14104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a1ap
Ensembl Gene ENSMUSG00000029141
Gene Namesolute carrier family 4 (anion exchanger), member 1, adaptor protein
Synonymskanadaptin
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock #IGL00769
Quality Score
Status
Chromosome5
Chromosomal Location31526995-31556932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 31553777 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 742 (Y742D)
Ref Sequence ENSEMBL: ENSMUSP00000144257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114533] [ENSMUST00000202214] [ENSMUST00000202950]
Predicted Effect probably damaging
Transcript: ENSMUST00000114533
AA Change: Y713D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: Y713D

DomainStartEndE-ValueType
FHA 134 195 3.21e-13 SMART
Blast:DSRM 316 385 9e-41 BLAST
low complexity region 405 419 N/A INTRINSIC
coiled coil region 443 475 N/A INTRINSIC
coiled coil region 588 619 N/A INTRINSIC
low complexity region 622 631 N/A INTRINSIC
low complexity region 666 679 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117262
AA Change: Y742D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112619
Gene: ENSMUSG00000029141
AA Change: Y742D

DomainStartEndE-ValueType
FHA 134 195 3.21e-13 SMART
Blast:DSRM 316 385 1e-40 BLAST
low complexity region 405 419 N/A INTRINSIC
coiled coil region 443 475 N/A INTRINSIC
coiled coil region 588 619 N/A INTRINSIC
low complexity region 622 631 N/A INTRINSIC
low complexity region 695 708 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000201789
AA Change: Y77D
Predicted Effect unknown
Transcript: ENSMUST00000201925
AA Change: S160R
Predicted Effect probably damaging
Transcript: ENSMUST00000202214
AA Change: Y713D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: Y713D

DomainStartEndE-ValueType
FHA 134 195 3.21e-13 SMART
Blast:DSRM 316 385 9e-41 BLAST
low complexity region 405 419 N/A INTRINSIC
coiled coil region 443 475 N/A INTRINSIC
coiled coil region 588 619 N/A INTRINSIC
low complexity region 622 631 N/A INTRINSIC
low complexity region 666 679 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202273
AA Change: Y132D
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202575
Predicted Effect probably damaging
Transcript: ENSMUST00000202950
AA Change: Y742D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: Y742D

DomainStartEndE-ValueType
FHA 134 195 3.21e-13 SMART
Blast:DSRM 316 385 1e-40 BLAST
low complexity region 405 419 N/A INTRINSIC
coiled coil region 443 475 N/A INTRINSIC
coiled coil region 588 619 N/A INTRINSIC
low complexity region 622 631 N/A INTRINSIC
low complexity region 695 708 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Fbxo42 C T 4: 141,180,449 T140M probably damaging Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in Slc4a1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01526:Slc4a1ap APN 5 31528227 missense possibly damaging 0.86
R1556:Slc4a1ap UTSW 5 31534210 splice site probably null
R1694:Slc4a1ap UTSW 5 31543754 missense probably damaging 1.00
R1884:Slc4a1ap UTSW 5 31534180 missense probably damaging 1.00
R3787:Slc4a1ap UTSW 5 31528139 missense possibly damaging 0.92
R4510:Slc4a1ap UTSW 5 31527403 missense probably benign 0.00
R4511:Slc4a1ap UTSW 5 31527403 missense probably benign 0.00
R4562:Slc4a1ap UTSW 5 31532029 missense probably damaging 1.00
R4828:Slc4a1ap UTSW 5 31530709 nonsense probably null
R5611:Slc4a1ap UTSW 5 31553829 utr 3 prime probably benign
R5648:Slc4a1ap UTSW 5 31550785 splice site probably null
R5991:Slc4a1ap UTSW 5 31534069 missense possibly damaging 0.92
R6531:Slc4a1ap UTSW 5 31548638 missense probably benign 0.18
R6602:Slc4a1ap UTSW 5 31527641 missense probably damaging 1.00
R6770:Slc4a1ap UTSW 5 31527882 intron probably null
R6844:Slc4a1ap UTSW 5 31527478 missense probably damaging 1.00
Posted On2012-12-06