Incidental Mutation 'R6843:Apip'
ID534602
Institutional Source Beutler Lab
Gene Symbol Apip
Ensembl Gene ENSMUSG00000010911
Gene NameAPAF1 interacting protein
SynonymsCGI-29, APIP2, Mmrp19
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6843 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location103073675-103092644 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 103092489 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 217 (F217L)
Ref Sequence ENSEMBL: ENSMUSP00000011055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011055]
Predicted Effect probably benign
Transcript: ENSMUST00000011055
AA Change: F217L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000011055
Gene: ENSMUSG00000010911
AA Change: F217L

DomainStartEndE-ValueType
Aldolase_II 25 221 1.64e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,638,401 Q78L probably benign Het
Akr1c21 A G 13: 4,575,214 H48R probably damaging Het
Anks1b T A 10: 90,948,598 S1143T probably damaging Het
Ash1l T A 3: 88,985,388 Y1525N probably damaging Het
Bcl2l13 G A 6: 120,848,617 probably null Het
Cep85 C G 4: 134,155,856 A241P probably benign Het
Clk4 T G 11: 51,276,249 probably null Het
Cnr2 C T 4: 135,917,589 P326L probably benign Het
Cryaa A G 17: 31,678,173 D58G possibly damaging Het
Crybg3 G A 16: 59,559,796 T365M probably benign Het
Csmd2 A G 4: 128,463,794 N1683D probably benign Het
Dbx2 T G 15: 95,654,459 I102L possibly damaging Het
Dll4 A T 2: 119,325,994 probably benign Het
Epb42 T A 2: 121,027,685 Y264F possibly damaging Het
Exoc3l T A 8: 105,290,097 H695L probably benign Het
Fam160a1 G A 3: 85,673,045 P618S probably damaging Het
Ghsr A C 3: 27,372,527 D244A probably benign Het
Gm9195 A G 14: 72,441,211 Y2268H possibly damaging Het
Hdac1 A G 4: 129,542,590 Y14H probably damaging Het
Hdac3 A T 18: 37,941,954 Y282N probably benign Het
Heg1 T A 16: 33,719,526 N285K probably benign Het
Igkv4-90 A G 6: 68,807,686 F8S possibly damaging Het
Map2k1 A T 9: 64,187,691 D336E probably damaging Het
Map4k2 A T 19: 6,353,447 I796F probably damaging Het
Mapk13 T A 17: 28,775,453 probably null Het
Mprip A G 11: 59,759,728 I1419M possibly damaging Het
Nrap T C 19: 56,380,219 E255G probably damaging Het
Olfr1306 T C 2: 111,912,915 N5S probably damaging Het
Olfr1357 T C 10: 78,612,057 N195D probably damaging Het
Olfr1451 G T 19: 12,998,998 C4F probably benign Het
Olfr549 A G 7: 102,554,721 I146V probably benign Het
Olfr799 A G 10: 129,647,179 D17G possibly damaging Het
Oprl1 A G 2: 181,715,754 E11G probably damaging Het
Palmd T A 3: 116,924,215 D211V probably damaging Het
Pcdhga11 A G 18: 37,756,325 N129D probably damaging Het
Plekha6 T A 1: 133,274,878 M359K probably damaging Het
Plekha7 G T 7: 116,143,320 H756Q probably benign Het
Ppfibp2 C T 7: 107,727,731 P441S probably benign Het
Ptprk T C 10: 28,591,982 I1373T possibly damaging Het
Serpinb9g G T 13: 33,492,917 L227F probably damaging Het
Snapc4 C A 2: 26,373,599 A11S probably benign Het
Sqor T C 2: 122,784,980 V7A probably benign Het
Sqor G T 2: 122,809,295 G437V probably damaging Het
Srrm3 T C 5: 135,852,281 V145A probably benign Het
Stx1b G A 7: 127,814,979 Q72* probably null Het
Syt7 A G 19: 10,421,771 D77G probably damaging Het
Tvp23a G A 16: 10,447,020 A9V probably benign Het
Vmn1r66 T A 7: 10,274,765 I114F probably damaging Het
Vmn2r80 C A 10: 79,169,668 Q380K probably benign Het
Xdh C T 17: 73,923,130 E269K probably damaging Het
Zfp932 T C 5: 110,008,715 M92T probably benign Het
Other mutations in Apip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Apip APN 2 103091912 missense probably benign 0.02
IGL01631:Apip APN 2 103073849 unclassified probably benign
IGL01736:Apip APN 2 103087141 missense probably damaging 0.98
IGL02734:Apip APN 2 103089544 splice site probably benign
BB006:Apip UTSW 2 103083021 missense probably benign 0.00
BB016:Apip UTSW 2 103083021 missense probably benign 0.00
R0256:Apip UTSW 2 103088571 missense possibly damaging 0.68
R1518:Apip UTSW 2 103089493 missense probably damaging 1.00
R1829:Apip UTSW 2 103088662 missense probably benign 0.09
R4930:Apip UTSW 2 103091881 nonsense probably null
R6292:Apip UTSW 2 103092467 missense probably benign 0.42
R6300:Apip UTSW 2 103087153 missense possibly damaging 0.92
R6725:Apip UTSW 2 103092525 missense possibly damaging 0.79
R6759:Apip UTSW 2 103091846 missense probably benign 0.02
R6968:Apip UTSW 2 103089453 missense possibly damaging 0.94
R7168:Apip UTSW 2 103092468 nonsense probably null
R7494:Apip UTSW 2 103092551 missense probably benign 0.00
R7929:Apip UTSW 2 103083021 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCCTTGCAGGTTTGAAAATTG -3'
(R):5'- GACCATCGGTAGTATTCTGTGAC -3'

Sequencing Primer
(F):5'- GGTTTGAAAATTGTTGGGGTCAAAAC -3'
(R):5'- CTGTGACAGATTAGTGACATCAAG -3'
Posted On2018-09-12