Incidental Mutation 'R1556:Slc4a1ap'
ID 170258
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 039595-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.755) question?
Stock # R1556 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31684339-31714276 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 31691554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114533] [ENSMUST00000202214] [ENSMUST00000202214] [ENSMUST00000202950] [ENSMUST00000202950] [ENSMUST00000201858]
AlphaFold E9PX68
Predicted Effect probably null
Transcript: ENSMUST00000114533
SMART Domains Protein: ENSMUSP00000110179
Gene: ENSMUSG00000029141

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 null
Transcript: ENSMUST00000117262
SMART Domains Protein: ENSMUSP00000112619
Gene: ENSMUSG00000029141

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 null
Transcript: ENSMUST00000117319
SMART Domains Protein: ENSMUSP00000114077
Gene: ENSMUSG00000029141

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: ENSMUST00000201294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201481
Predicted Effect probably null
Transcript: ENSMUST00000202214
SMART Domains Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141

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 null
Transcript: ENSMUST00000202214
SMART Domains Protein: ENSMUSP00000144613
Gene: ENSMUSG00000029141

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 null
Transcript: ENSMUST00000202950
SMART Domains Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141

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 null
Transcript: ENSMUST00000202950
SMART Domains Protein: ENSMUSP00000144257
Gene: ENSMUSG00000029141

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 null
Transcript: ENSMUST00000201858
SMART Domains Protein: ENSMUSP00000143960
Gene: ENSMUSG00000029141

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 probably benign
Transcript: ENSMUST00000201925
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 73,203,477 (GRCm39) S302P probably damaging Het
Anapc1 T C 2: 128,466,819 (GRCm39) T1626A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Arid5a T A 1: 36,359,245 (GRCm39) Y520* probably null Het
Aven G A 2: 112,461,230 (GRCm39) M215I probably damaging Het
Cabyr A G 18: 12,877,837 (GRCm39) D58G probably damaging Het
Ccdc146 A G 5: 21,535,551 (GRCm39) Y168H probably damaging Het
Ccnd2 A T 6: 127,107,363 (GRCm39) S269T probably benign Het
Cd68 T A 11: 69,556,676 (GRCm39) T44S probably damaging Het
Clstn2 A T 9: 97,338,558 (GRCm39) I867N probably benign Het
Cmss1 C T 16: 57,136,560 (GRCm39) R104H probably benign Het
Col6a6 A G 9: 105,586,672 (GRCm39) V1783A possibly damaging Het
Dach2 T C X: 112,208,214 (GRCm39) S31P probably benign Het
Dpp8 T A 9: 64,958,761 (GRCm39) W279R probably damaging Het
Fras1 A T 5: 96,890,921 (GRCm39) I2817F possibly damaging Het
Gabrr3 G A 16: 59,281,763 (GRCm39) D373N probably benign Het
Gdf7 T C 12: 8,351,698 (GRCm39) N79S unknown Het
Gpam A G 19: 55,064,763 (GRCm39) V647A possibly damaging Het
Gpatch1 T C 7: 34,994,776 (GRCm39) T497A probably benign Het
Grin2a A T 16: 9,525,579 (GRCm39) F337L probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
H2-Aa A T 17: 34,503,390 (GRCm39) V69D possibly damaging Het
H2-M10.5 T C 17: 37,084,205 (GRCm39) Y56H probably damaging Het
Kcnu1 G A 8: 26,351,219 (GRCm39) probably null Het
Krt77 A G 15: 101,769,713 (GRCm39) S386P probably damaging Het
L3mbtl2 T A 15: 81,566,203 (GRCm39) M342K probably benign Het
Ldlrad1 A G 4: 107,075,010 (GRCm39) T186A probably benign Het
Lins1 C A 7: 66,360,385 (GRCm39) C168* probably null Het
Lrrtm3 G A 10: 63,923,928 (GRCm39) T413M probably damaging Het
Macf1 T C 4: 123,348,813 (GRCm39) D4038G probably damaging Het
Mark3 T G 12: 111,594,275 (GRCm39) N308K probably damaging Het
Mdga2 T A 12: 66,597,367 (GRCm39) Y709F possibly damaging Het
Mtus2 T A 5: 148,014,198 (GRCm39) S330R probably benign Het
Or1p1 T A 11: 74,179,762 (GRCm39) C97S probably damaging Het
Or4k15c G A 14: 50,321,916 (GRCm39) A74V possibly damaging Het
Or51a24 T A 7: 103,733,468 (GRCm39) H273L probably benign Het
Or6c76 T C 10: 129,612,242 (GRCm39) V168A probably benign Het
Ovgp1 A G 3: 105,894,068 (GRCm39) probably benign Het
P4ha2 A G 11: 54,015,836 (GRCm39) T408A probably damaging Het
Pcdh8 T G 14: 80,007,843 (GRCm39) D240A probably damaging Het
Pcyt2 T C 11: 120,502,911 (GRCm39) probably null Het
Pecr T A 1: 72,298,542 (GRCm39) I293L probably benign Het
Pogk A G 1: 166,226,402 (GRCm39) V583A possibly damaging Het
Prkg1 T C 19: 30,602,143 (GRCm39) K371R probably benign Het
Psmd2 T A 16: 20,474,335 (GRCm39) M297K possibly damaging Het
Rgs12 A G 5: 35,196,626 (GRCm39) R769G possibly damaging Het
Sgtb T A 13: 104,276,284 (GRCm39) N237K probably damaging Het
Sh3bgrl2 T C 9: 83,476,751 (GRCm39) V91A probably damaging Het
Slc4a7 T C 14: 14,778,872 (GRCm38) V940A probably benign Het
Tep1 T C 14: 51,090,499 (GRCm39) T740A probably benign Het
Tnk2 G T 16: 32,489,737 (GRCm39) probably null Het
Trpv2 A G 11: 62,483,059 (GRCm39) Y450C probably damaging Het
Tut7 T C 13: 59,948,054 (GRCm39) T354A probably benign Het
Tvp23a A T 16: 10,264,862 (GRCm39) D16E probably damaging Het
Twnk T C 19: 44,997,850 (GRCm39) F460L possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Urb2 T C 8: 124,757,356 (GRCm39) L1021P probably damaging Het
Vps13c T C 9: 67,837,993 (GRCm39) Y1848H probably damaging Het
Vwa8 T G 14: 79,324,121 (GRCm39) N1141K probably benign Het
Yipf3 A G 17: 46,561,793 (GRCm39) Y200C probably damaging Het
Zbtb38 A G 9: 96,569,044 (GRCm39) V680A probably benign Het
Znrf3 T C 11: 5,231,347 (GRCm39) E722G probably benign Het
Zzef1 T A 11: 72,806,059 (GRCm39) L2665H probably damaging 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
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
R7342:Slc4a1ap UTSW 5 31,693,634 (GRCm39) missense possibly damaging 0.89
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'- CTCAGCACAGGCACCTTGTACAT -3'
(R):5'- CGAGCAAACGCTTTTCTCCACTAAC -3'

Sequencing Primer
(F):5'- tctcctctcctcctcttcttc -3'
(R):5'- CTCCACTAACTGGAATAAAACTAGTC -3'
Posted On 2014-04-13