Incidental Mutation 'R3971:Aunip'
ID 310961
Institutional Source Beutler Lab
Gene Symbol Aunip
Ensembl Gene ENSMUSG00000078521
Gene Name aurora kinase A and ninein interacting protein
Synonyms 2610002D18Rik
MMRRC Submission 040839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R3971 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134238310-134251233 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134250780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 242 (K242E)
Ref Sequence ENSEMBL: ENSMUSP00000101492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102550] [ENSMUST00000105866] [ENSMUST00000116279] [ENSMUST00000131613]
AlphaFold E9Q6Z5
Predicted Effect probably benign
Transcript: ENSMUST00000102550
SMART Domains Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 7 251 4.9e-71 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105866
AA Change: K242E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521
AA Change: K242E

DomainStartEndE-ValueType
Pfam:AIB 26 335 1.5e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116279
SMART Domains Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 7 251 4.9e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130187
Predicted Effect probably benign
Transcript: ENSMUST00000131613
SMART Domains Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671

DomainStartEndE-ValueType
Pfam:Mito_fiss_reg 5 201 2.3e-69 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 95% (38/40)
Allele List at MGI

All alleles(44) : Gene trapped(44)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,971,615 (GRCm39) P147L probably damaging Het
Apbb1ip T A 2: 22,713,506 (GRCm39) D120E unknown Het
Atp10b A G 11: 43,107,339 (GRCm39) D791G probably damaging Het
Ccdc80 A G 16: 44,916,183 (GRCm39) E313G probably benign Het
Cd72 C T 4: 43,449,491 (GRCm39) R275H probably damaging Het
Chrnb1 A G 11: 69,683,742 (GRCm39) probably benign Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Cspg4b A G 13: 113,453,660 (GRCm39) E41G probably damaging Het
Ddr2 A G 1: 169,815,986 (GRCm39) F574L probably damaging Het
Dock1 G A 7: 134,348,637 (GRCm39) D284N probably damaging Het
Dync1h1 A G 12: 110,632,399 (GRCm39) H4506R probably benign Het
Fam174b T C 7: 73,416,348 (GRCm39) V147A probably damaging Het
Glp2r T A 11: 67,637,641 (GRCm39) D130V possibly damaging Het
Gm18856 A T 13: 14,139,433 (GRCm39) probably benign Het
Gm7247 A G 14: 51,602,841 (GRCm39) Y59C probably damaging Het
Hecw1 T C 13: 14,411,514 (GRCm39) D1062G probably damaging Het
Ifit2 A G 19: 34,551,441 (GRCm39) E327G probably benign Het
Ighv1-37 A T 12: 114,860,079 (GRCm39) S43T probably damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mcoln1 T A 8: 3,557,408 (GRCm39) I138K probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mrc2 G A 11: 105,218,857 (GRCm39) D193N possibly damaging Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nckap1l A G 15: 103,370,987 (GRCm39) K189E probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or6c69 T C 10: 129,747,742 (GRCm39) N135S probably benign Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Psma8 A G 18: 14,890,444 (GRCm39) K195E possibly damaging Het
Rbm25 A G 12: 83,721,982 (GRCm39) T723A probably benign Het
Sema3b A G 9: 107,477,567 (GRCm39) S485P probably benign Het
Slc12a2 T A 18: 58,063,268 (GRCm39) L916Q possibly damaging Het
Spata31d1a T A 13: 59,849,971 (GRCm39) D719V possibly damaging Het
Synj1 A G 16: 90,788,491 (GRCm39) S86P probably damaging Het
Tmem130 T A 5: 144,692,131 (GRCm39) H91L probably benign Het
Tsc2 T C 17: 24,842,562 (GRCm39) D288G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vps35l T C 7: 118,433,022 (GRCm39) I585T probably damaging Het
Wac T C 18: 7,916,175 (GRCm39) V303A probably damaging Het
Zfhx2 A G 14: 55,311,932 (GRCm39) V254A probably benign Het
Zfp993 A G 4: 146,742,089 (GRCm39) T138A probably benign Het
Other mutations in Aunip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01445:Aunip APN 4 134,250,318 (GRCm39) missense probably benign 0.00
IGL01798:Aunip APN 4 134,250,722 (GRCm39) missense possibly damaging 0.85
R0019:Aunip UTSW 4 134,250,823 (GRCm39) nonsense probably null
R0173:Aunip UTSW 4 134,250,861 (GRCm39) missense probably damaging 0.98
R2064:Aunip UTSW 4 134,250,618 (GRCm39) missense probably benign 0.32
R4809:Aunip UTSW 4 134,238,450 (GRCm39) missense possibly damaging 0.70
R5018:Aunip UTSW 4 134,250,928 (GRCm39) splice site probably null
R8116:Aunip UTSW 4 134,250,618 (GRCm39) missense possibly damaging 0.86
R8672:Aunip UTSW 4 134,250,460 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGTTTGCTGGACCAAAGAGAG -3'
(R):5'- CCCTGAGCCTTGATTCCTAG -3'

Sequencing Primer
(F):5'- AGGGGAAGGGCTTCGTGAATC -3'
(R):5'- CTAGCATTGGTCACATCTCGGAAAG -3'
Posted On 2015-04-29