Incidental Mutation 'IGL01526:Slc4a1ap'
ID89579
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 essential (E-score: 0.599) question?
Stock #IGL01526
Quality Score
Status
Chromosome5
Chromosomal Location31526995-31556932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 31528227 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 283 (T283K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065388] [ENSMUST00000114533] [ENSMUST00000200721] [ENSMUST00000201769] [ENSMUST00000201858] [ENSMUST00000202214] [ENSMUST00000202421] [ENSMUST00000202950]
Predicted Effect probably benign
Transcript: ENSMUST00000065388
SMART Domains Protein: ENSMUSP00000067337
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
low complexity region 378 393 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114533
AA Change: T283K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: T283K

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 possibly damaging
Transcript: ENSMUST00000117262
AA Change: T283K

PolyPhen 2 Score 0.860 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112619
Gene: ENSMUSG00000029141
AA Change: T283K

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 probably benign
Transcript: ENSMUST00000200721
SMART Domains Protein: ENSMUSP00000144294
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
low complexity region 46 68 N/A INTRINSIC
BTP 100 179 5.13e-25 SMART
low complexity region 329 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201692
Predicted Effect probably benign
Transcript: ENSMUST00000201769
SMART Domains Protein: ENSMUSP00000144065
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
low complexity region 378 393 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000201858
AA Change: T283K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: T283K

DomainStartEndE-ValueType
FHA 134 195 3.21e-13 SMART
Blast:DSRM 316 385 2e-41 BLAST
low complexity region 405 419 N/A INTRINSIC
coiled coil region 443 475 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202016
Predicted Effect possibly damaging
Transcript: ENSMUST00000202214
AA Change: T283K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: T283K

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 benign
Transcript: ENSMUST00000202421
SMART Domains Protein: ENSMUSP00000143795
Gene: ENSMUSG00000053134

DomainStartEndE-ValueType
low complexity region 79 89 N/A INTRINSIC
low complexity region 95 117 N/A INTRINSIC
BTP 149 228 5.13e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202932
Predicted Effect possibly damaging
Transcript: ENSMUST00000202950
AA Change: T283K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: T283K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Slc4a1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Slc4a1ap APN 5 31553777 missense probably damaging 1.00
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
R7103:Slc4a1ap UTSW 5 31543857 missense probably benign
R7342:Slc4a1ap UTSW 5 31536290 missense possibly damaging 0.89
R7378:Slc4a1ap UTSW 5 31527527 missense probably benign
R7527:Slc4a1ap UTSW 5 31534131 missense probably benign 0.04
R7603:Slc4a1ap UTSW 5 31546195 missense
R7608:Slc4a1ap UTSW 5 31536189 missense possibly damaging 0.51
R7781:Slc4a1ap UTSW 5 31527478 missense probably damaging 1.00
Posted On2013-12-03