Incidental Mutation 'R8164:Aurkaip1'
ID 633663
Institutional Source Beutler Lab
Gene Symbol Aurkaip1
Ensembl Gene ENSMUSG00000065990
Gene Name aurora kinase A interacting protein 1
Synonyms AIP, 0610033H09Rik, Aurora-A kinase interacting protein
MMRRC Submission 067590-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8164 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155915709-155917555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155916962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 70 (M70K)
Ref Sequence ENSEMBL: ENSMUSP00000081114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084097] [ENSMUST00000105591] [ENSMUST00000105592] [ENSMUST00000139651]
AlphaFold Q9DCJ7
Predicted Effect probably damaging
Transcript: ENSMUST00000084097
AA Change: M70K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081114
Gene: ENSMUSG00000065990
AA Change: M70K

DomainStartEndE-ValueType
DUF1713 127 160 3.23e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105591
AA Change: M70K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101216
Gene: ENSMUSG00000065990
AA Change: M70K

DomainStartEndE-ValueType
DUF1713 127 160 3.23e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105592
AA Change: M70K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101217
Gene: ENSMUSG00000065990
AA Change: M70K

DomainStartEndE-ValueType
DUF1713 127 160 3.23e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139651
AA Change: M70K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117870
Gene: ENSMUSG00000065990
AA Change: M70K

DomainStartEndE-ValueType
Pfam:DUF1713 127 148 3.4e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,454 (GRCm39) V347A probably benign Het
Abca13 A T 11: 9,565,799 (GRCm39) I4808F probably damaging Het
Acaa2 C A 18: 74,928,318 (GRCm39) Y182* probably null Het
Ankrd44 A T 1: 54,703,138 (GRCm39) N644K probably damaging Het
Brinp1 A T 4: 68,681,158 (GRCm39) Y457* probably null Het
Brox A T 1: 183,062,491 (GRCm39) C288S possibly damaging Het
Ccdc57 C T 11: 120,788,788 (GRCm39) R353H probably benign Het
Cdhr1 A T 14: 36,801,499 (GRCm39) S815T probably damaging Het
Cnih4 A G 1: 180,989,691 (GRCm39) I101M probably damaging Het
Ctsj T C 13: 61,150,334 (GRCm39) T222A probably benign Het
Dab2 C A 15: 6,460,449 (GRCm39) D452E possibly damaging Het
Dnah3 A G 7: 119,566,837 (GRCm39) I2463T probably damaging Het
Dync1h1 A G 12: 110,582,794 (GRCm39) T326A possibly damaging Het
F10 A G 8: 13,100,781 (GRCm39) T232A probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gcdh A G 8: 85,619,181 (GRCm39) S128P probably damaging Het
Golph3l G A 3: 95,524,517 (GRCm39) R256Q probably benign Het
Igkv2-109 A G 6: 68,279,853 (GRCm39) T25A probably damaging Het
Lcor T A 19: 41,573,849 (GRCm39) V868D probably damaging Het
Lhx9 A T 1: 138,760,518 (GRCm39) F286L probably damaging Het
Lrrtm1 A T 6: 77,221,199 (GRCm39) N219Y probably damaging Het
Mei4 A G 9: 81,809,642 (GRCm39) K242E probably damaging Het
Morc2b T C 17: 33,357,014 (GRCm39) M253V probably damaging Het
Myh14 A G 7: 44,274,457 (GRCm39) V1277A probably benign Het
N4bp2 T A 5: 65,966,566 (GRCm39) W1335R probably damaging Het
Naip6 T A 13: 100,452,797 (GRCm39) H88L probably benign Het
Niban1 G A 1: 151,593,339 (GRCm39) V675M probably benign Het
Nlrp1b A T 11: 71,119,243 (GRCm39) H17Q possibly damaging Het
Or1p1b A T 11: 74,130,786 (GRCm39) Y132F probably damaging Het
P2ry12 C T 3: 59,125,037 (GRCm39) V213I possibly damaging Het
Pcdhb21 C A 18: 37,649,057 (GRCm39) P729T probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf39 C G 17: 37,254,292 (GRCm39) R105G probably damaging Het
Sbk1 G A 7: 125,891,711 (GRCm39) V382M possibly damaging Het
Sbno1 T C 5: 124,512,684 (GRCm39) T1362A probably benign Het
Slc2a13 A G 15: 91,160,281 (GRCm39) Y558H probably damaging Het
Tardbp A T 4: 148,703,060 (GRCm39) N301K probably benign Het
Tet2 G T 3: 133,172,895 (GRCm39) T1789N possibly damaging Het
Tln2 G A 9: 67,226,702 (GRCm39) A1261V probably benign Het
Tmem131l A T 3: 83,833,495 (GRCm39) Y789* probably null Het
Tmprss11c T A 5: 86,379,712 (GRCm39) I399F probably damaging Het
Tnfrsf25 C T 4: 152,201,877 (GRCm39) T118I possibly damaging Het
Trpc4 A T 3: 54,223,226 (GRCm39) M721L probably benign Het
Vav3 A G 3: 109,248,368 (GRCm39) K5R probably benign Het
Wdr24 C A 17: 26,044,923 (GRCm39) probably null Het
Zc3hc1 A T 6: 30,390,895 (GRCm39) I36K probably damaging Het
Other mutations in Aurkaip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Aurkaip1 APN 4 155,917,028 (GRCm39) missense probably benign
R4085:Aurkaip1 UTSW 4 155,917,362 (GRCm39) missense probably benign 0.00
R4585:Aurkaip1 UTSW 4 155,917,091 (GRCm39) missense possibly damaging 0.55
R6266:Aurkaip1 UTSW 4 155,916,977 (GRCm39) missense probably damaging 1.00
R6798:Aurkaip1 UTSW 4 155,917,196 (GRCm39) splice site probably null
R8980:Aurkaip1 UTSW 4 155,916,873 (GRCm39) missense probably damaging 0.96
Z1176:Aurkaip1 UTSW 4 155,917,220 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTCTACATGTTGCCCTAGCCTG -3'
(R):5'- TTTGCACTGCACTGGAGTGG -3'

Sequencing Primer
(F):5'- CTGTGATGGCACTAGTAGCAACTG -3'
(R):5'- ACTGCACTGGAGTGGCATCC -3'
Posted On 2020-07-13