Incidental Mutation 'R7342:Slc4a1ap'
ID 569925
Institutional Source Beutler Lab
Gene Symbol Slc4a1ap
Ensembl Gene ENSMUSG00000029141
Gene Name solute carrier family 4 (anion exchanger), member 1, adaptor protein
Synonyms kanadaptin
MMRRC Submission 045432-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31684339-31714276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31693634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 523 (L523F)
Ref Sequence ENSEMBL: ENSMUSP00000110179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114533] [ENSMUST00000201858] [ENSMUST00000202214] [ENSMUST00000202950]
AlphaFold E9PX68
Predicted Effect possibly damaging
Transcript: ENSMUST00000114533
AA Change: L523F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141
AA Change: L523F

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: ENSMUST00000201858
AA Change: L523F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141
AA Change: L523F

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000202214
AA Change: L523F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141
AA Change: L523F

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: ENSMUST00000202950
AA Change: L523F

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141
AA Change: L523F

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Arid4b A C 13: 14,310,804 (GRCm39) I136L probably benign Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Calcr T A 6: 3,691,536 (GRCm39) H450L probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lbr C T 1: 181,653,186 (GRCm39) probably null Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Scp2 T A 4: 107,948,518 (GRCm39) Y197F probably benign Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc17a9 T C 2: 180,378,555 (GRCm39) L246P probably damaging Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Sstr1 A G 12: 58,260,456 (GRCm39) S360G possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) probably benign Het
Other mutations in Slc4a1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Slc4a1ap APN 5 31,711,121 (GRCm39) missense probably damaging 1.00
IGL01526:Slc4a1ap APN 5 31,685,571 (GRCm39) missense possibly damaging 0.86
R1556:Slc4a1ap UTSW 5 31,691,554 (GRCm39) splice site probably null
R1694:Slc4a1ap UTSW 5 31,701,098 (GRCm39) missense probably damaging 1.00
R1884:Slc4a1ap UTSW 5 31,691,524 (GRCm39) missense probably damaging 1.00
R3787:Slc4a1ap UTSW 5 31,685,483 (GRCm39) missense possibly damaging 0.92
R4510:Slc4a1ap UTSW 5 31,684,747 (GRCm39) missense probably benign 0.00
R4511:Slc4a1ap UTSW 5 31,684,747 (GRCm39) missense probably benign 0.00
R4562:Slc4a1ap UTSW 5 31,689,373 (GRCm39) missense probably damaging 1.00
R4828:Slc4a1ap UTSW 5 31,688,053 (GRCm39) nonsense probably null
R5611:Slc4a1ap UTSW 5 31,711,173 (GRCm39) utr 3 prime probably benign
R5648:Slc4a1ap UTSW 5 31,708,129 (GRCm39) splice site probably null
R5991:Slc4a1ap UTSW 5 31,691,413 (GRCm39) missense possibly damaging 0.92
R6531:Slc4a1ap UTSW 5 31,705,982 (GRCm39) missense probably benign 0.18
R6602:Slc4a1ap UTSW 5 31,684,985 (GRCm39) missense probably damaging 1.00
R6770:Slc4a1ap UTSW 5 31,685,226 (GRCm39) splice site probably null
R6844:Slc4a1ap UTSW 5 31,684,822 (GRCm39) missense probably damaging 1.00
R7103:Slc4a1ap UTSW 5 31,701,201 (GRCm39) missense probably benign
R7378:Slc4a1ap UTSW 5 31,684,871 (GRCm39) missense probably benign
R7527:Slc4a1ap UTSW 5 31,691,475 (GRCm39) missense probably benign 0.04
R7603:Slc4a1ap UTSW 5 31,703,539 (GRCm39) missense
R7608:Slc4a1ap UTSW 5 31,693,533 (GRCm39) missense possibly damaging 0.51
R7781:Slc4a1ap UTSW 5 31,684,822 (GRCm39) missense probably damaging 1.00
R8867:Slc4a1ap UTSW 5 31,708,059 (GRCm39) missense probably benign
R9083:Slc4a1ap UTSW 5 31,684,457 (GRCm39) missense probably benign 0.00
R9109:Slc4a1ap UTSW 5 31,693,538 (GRCm39) missense probably damaging 1.00
R9161:Slc4a1ap UTSW 5 31,685,474 (GRCm39) missense
R9298:Slc4a1ap UTSW 5 31,693,538 (GRCm39) missense probably damaging 1.00
R9460:Slc4a1ap UTSW 5 31,685,463 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAAGTCTTTGGGCTGCCTG -3'
(R):5'- AGCCCTCTGGGTAAACATTTAG -3'

Sequencing Primer
(F):5'- GGCTGCCTGTGTAACATGTCTC -3'
(R):5'- CCCTCTGGGTAAACATTTAGTTGAG -3'
Posted On 2019-09-13