Incidental Mutation 'R7016:Aip'
ID 545345
Institutional Source Beutler Lab
Gene Symbol Aip
Ensembl Gene ENSMUSG00000024847
Gene Name aryl-hydrocarbon receptor-interacting protein
Synonyms Ara9, Xap2, Fkbp16, D19Bwg1412e
MMRRC Submission 045117-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7016 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4164446-4175858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4171402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 11 (D11E)
Ref Sequence ENSEMBL: ENSMUSP00000114096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025767] [ENSMUST00000117831] [ENSMUST00000121402]
AlphaFold O08915
Predicted Effect probably benign
Transcript: ENSMUST00000025767
AA Change: D11E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025767
Gene: ENSMUSG00000024847
AA Change: D11E

DomainStartEndE-ValueType
Pfam:FKBP_C 26 155 5.3e-11 PFAM
PDB:4APO|B 166 330 1e-113 PDB
SCOP:d1ihga1 170 322 1e-14 SMART
Blast:TPR 231 264 3e-7 BLAST
Blast:TPR 265 298 7e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000117831
AA Change: D11E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113807
Gene: ENSMUSG00000024847
AA Change: D11E

DomainStartEndE-ValueType
Pfam:FKBP_C 26 155 1e-10 PFAM
PDB:4APO|B 166 330 1e-113 PDB
SCOP:d1ihga1 170 322 1e-14 SMART
Blast:TPR 231 264 3e-7 BLAST
Blast:TPR 265 298 7e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121402
AA Change: D11E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114096
Gene: ENSMUSG00000024847
AA Change: D11E

DomainStartEndE-ValueType
Pfam:FKBP_C 26 155 1.5e-11 PFAM
Meta Mutation Damage Score 0.0627 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: This gene encodes an Hsp90-associated protein that is localized to the cytoplasm. The encoded protein interacts with the aryl hydrocarbon receptor (AhR) and the tyrosine kinase receptor RET, inhibits AhR ubiquitination, and regulates the intracellular localization of AhR. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality from E10 to E19. Mice exhibit cardiac malformations such as double outlet right ventricle and ventricular septal defect and sometimes hemorrhage or petechiae. Mice homozygous for a hypomorphic allele exhibit patent ductus venosus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,986,843 (GRCm39) V754D probably benign Het
Actn1 T A 12: 80,219,742 (GRCm39) M710L possibly damaging Het
Adam1a A G 5: 121,659,101 (GRCm39) F64S probably benign Het
Ak7 T A 12: 105,747,938 (GRCm39) Y714* probably null Het
Amhr2 A G 15: 102,362,799 (GRCm39) E522G possibly damaging Het
Amotl1 A G 9: 14,504,995 (GRCm39) L108P probably damaging Het
Arhgef17 A G 7: 100,528,184 (GRCm39) S677P probably benign Het
Asph T C 4: 9,630,604 (GRCm39) probably null Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
Atp13a3 C A 16: 30,157,308 (GRCm39) V903L possibly damaging Het
Bcam G A 7: 19,492,368 (GRCm39) R576* probably null Het
Btbd2 A G 10: 80,484,449 (GRCm39) S141P probably damaging Het
Cacna1b T C 2: 24,652,860 (GRCm39) N67S possibly damaging Het
Cc2d2b A G 19: 40,784,248 (GRCm39) T872A possibly damaging Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Cep44 A T 8: 56,997,234 (GRCm39) F101L possibly damaging Het
Cfap410 T A 10: 77,818,790 (GRCm39) C154S probably benign Het
Cimap1d T C 10: 79,475,790 (GRCm39) Y258C probably damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnajc21 G T 15: 10,461,493 (GRCm39) Y152* probably null Het
Edem2 A G 2: 155,557,992 (GRCm39) F214L possibly damaging Het
Fam118b G A 9: 35,135,014 (GRCm39) R198W probably damaging Het
Fgb A G 3: 82,953,371 (GRCm39) V133A probably benign Het
Fsip2 A G 2: 82,820,979 (GRCm39) T5571A probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hnf4a T A 2: 163,406,193 (GRCm39) Y277N probably damaging Het
Htatip2 A G 7: 49,420,583 (GRCm39) D143G possibly damaging Het
Itgae A G 11: 73,010,342 (GRCm39) N611D probably damaging Het
Ksr1 A T 11: 78,918,362 (GRCm39) N515K probably damaging Het
Lrp1 C A 10: 127,395,836 (GRCm39) probably null Het
Map3k20 T A 2: 72,208,979 (GRCm39) V195D probably damaging Het
Meox2 A G 12: 37,159,223 (GRCm39) S132G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nell2 T A 15: 95,127,032 (GRCm39) N781I possibly damaging Het
Or12d16-ps1 G A 17: 37,706,094 (GRCm39) G221D possibly damaging Het
Or13a22 A G 7: 140,073,153 (GRCm39) T201A probably benign Het
Or51m1 A G 7: 103,578,737 (GRCm39) I236V probably benign Het
Or5e1 A G 7: 108,354,918 (GRCm39) N285S probably damaging Het
Otoa A T 7: 120,746,989 (GRCm39) Q918L probably damaging Het
Palld T G 8: 61,969,032 (GRCm39) K1022T probably damaging Het
Parp8 A T 13: 117,031,627 (GRCm39) S362T probably damaging Het
Phrf1 A G 7: 140,817,476 (GRCm39) E95G probably damaging Het
Pls1 A T 9: 95,668,994 (GRCm39) F76I probably damaging Het
Pnp T A 14: 51,187,706 (GRCm39) probably null Het
Ptdss1 A C 13: 67,120,685 (GRCm39) M294L probably benign Het
Rictor T A 15: 6,804,361 (GRCm39) probably null Het
Rilp A G 11: 75,401,745 (GRCm39) E175G probably damaging Het
Serpina16 T A 12: 103,641,630 (GRCm39) T32S probably benign Het
Sim1 C T 10: 50,860,346 (GRCm39) S736L probably benign Het
Smarcc2 T G 10: 128,321,198 (GRCm39) probably null Het
Smtn A G 11: 3,480,368 (GRCm39) probably null Het
Sspo T A 6: 48,426,098 (GRCm39) W98R probably damaging Het
St8sia3 A T 18: 64,402,654 (GRCm39) I98F probably benign Het
Taf10 A T 7: 105,393,205 (GRCm39) probably null Het
Tasor2 A T 13: 3,626,857 (GRCm39) V1031E possibly damaging Het
Tbc1d4 T A 14: 101,724,877 (GRCm39) N580I probably damaging Het
Trim12c A T 7: 103,997,413 (GRCm39) C48S Het
Tsc22d1 C A 14: 76,654,982 (GRCm39) T405K probably damaging Het
Tubgcp5 A G 7: 55,443,977 (GRCm39) D2G possibly damaging Het
Wwc2 T C 8: 48,300,583 (GRCm39) E960G unknown Het
Yme1l1 T A 2: 23,076,367 (GRCm39) probably null Het
Zbtb2 G C 10: 4,318,646 (GRCm39) P460R probably damaging Het
Zfp62 T G 11: 49,106,764 (GRCm39) I285S probably damaging Het
Other mutations in Aip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Aip APN 19 4,171,397 (GRCm39) missense probably damaging 0.99
R0331:Aip UTSW 19 4,168,247 (GRCm39) missense probably damaging 1.00
R2244:Aip UTSW 19 4,164,796 (GRCm39) missense probably benign
R5219:Aip UTSW 19 4,165,180 (GRCm39) missense probably benign 0.06
R5840:Aip UTSW 19 4,166,010 (GRCm39) missense possibly damaging 0.64
R6167:Aip UTSW 19 4,165,188 (GRCm39) missense probably benign 0.30
R6642:Aip UTSW 19 4,165,149 (GRCm39) missense probably damaging 1.00
R6815:Aip UTSW 19 4,166,066 (GRCm39) missense probably benign
R7097:Aip UTSW 19 4,165,381 (GRCm39) missense probably benign 0.02
R7316:Aip UTSW 19 4,164,793 (GRCm39) missense probably benign 0.03
R8025:Aip UTSW 19 4,165,346 (GRCm39) missense probably benign 0.16
R8374:Aip UTSW 19 4,165,456 (GRCm39) missense probably damaging 1.00
R8444:Aip UTSW 19 4,166,034 (GRCm39) missense probably damaging 1.00
R9517:Aip UTSW 19 4,168,217 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CATGTGAGAGGTAGCCTGAC -3'
(R):5'- AGGAACCAATCACGGCTCTTTTC -3'

Sequencing Primer
(F):5'- TGACTGGCAGCTGCTCTCTG -3'
(R):5'- ACCAATCACGGCTCTTTTCTTCATTC -3'
Posted On 2019-05-13