Incidental Mutation 'R1980:Ciapin1'
ID 222156
Institutional Source Beutler Lab
Gene Symbol Ciapin1
Ensembl Gene ENSMUSG00000031781
Gene Name cytokine induced apoptosis inhibitor 1
Synonyms anamorsin, 2810413N20Rik
MMRRC Submission 039992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1980 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95546432-95564986 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95559161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 43 (V43I)
Ref Sequence ENSEMBL: ENSMUSP00000125474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034233] [ENSMUST00000161792] [ENSMUST00000162538]
AlphaFold Q8WTY4
Predicted Effect probably benign
Transcript: ENSMUST00000034233
AA Change: V47I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034233
Gene: ENSMUSG00000031781
AA Change: V47I

DomainStartEndE-ValueType
Pfam:Methyltransf_11 18 95 4.7e-6 PFAM
Pfam:CIAPIN1 228 270 8e-8 PFAM
Pfam:CIAPIN1 262 301 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160301
Predicted Effect probably benign
Transcript: ENSMUST00000161762
SMART Domains Protein: ENSMUSP00000123794
Gene: ENSMUSG00000031781

DomainStartEndE-ValueType
PDB:2LD4|A 1 171 9e-95 PDB
SCOP:d1khha_ 8 146 2e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161792
AA Change: V43I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125474
Gene: ENSMUSG00000031781
AA Change: V43I

DomainStartEndE-ValueType
PDB:2LD4|A 10 76 3e-31 PDB
Pfam:CIAPIN1 125 158 1.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162120
Predicted Effect probably benign
Transcript: ENSMUST00000162538
AA Change: V47I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125451
Gene: ENSMUSG00000031781
AA Change: V47I

DomainStartEndE-ValueType
Pfam:Methyltransf_11 18 95 4.7e-6 PFAM
Pfam:CIAPIN1 228 270 8e-8 PFAM
Pfam:CIAPIN1 262 301 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162589
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos with erythropoietic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,386,702 (GRCm39) I620S possibly damaging Het
Acot8 A G 2: 164,636,964 (GRCm39) F262S probably damaging Het
Adgb C T 10: 10,309,242 (GRCm39) V246I probably benign Het
Akap9 T A 5: 4,022,771 (GRCm39) M1200K probably damaging Het
Alg11 T A 8: 22,551,903 (GRCm39) F16I possibly damaging Het
Apol7c A G 15: 77,410,244 (GRCm39) V234A probably benign Het
Arhgap19 T G 19: 41,776,784 (GRCm39) I122L possibly damaging Het
Arhgef37 A G 18: 61,641,767 (GRCm39) S201P probably damaging Het
Asgr1 A T 11: 69,945,772 (GRCm39) D16V probably damaging Het
Camta2 A T 11: 70,573,308 (GRCm39) C227S probably benign Het
Cd22 A T 7: 30,572,658 (GRCm39) L317Q probably damaging Het
Cenpf A T 1: 189,386,112 (GRCm39) I2056K probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Cox5b-ps T G 13: 21,685,294 (GRCm39) T99P possibly damaging Het
Dach1 A G 14: 98,068,777 (GRCm39) L601P probably damaging Het
Ddx11 T A 17: 66,455,734 (GRCm39) L711Q probably damaging Het
Dsg1a A T 18: 20,471,707 (GRCm39) N653I probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Galnt5 T C 2: 57,914,735 (GRCm39) probably null Het
Gemin5 A G 11: 58,027,743 (GRCm39) L935P probably damaging Het
Gm9507 A T 10: 77,647,519 (GRCm39) C53* probably null Het
Irgm2 A G 11: 58,110,902 (GRCm39) I198V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 A C 14: 100,387,162 (GRCm39) probably null Het
Lpp C T 16: 24,480,451 (GRCm39) P73L probably damaging Het
Lrrc34 G A 3: 30,696,890 (GRCm39) H127Y probably benign Het
Lyar T C 5: 38,382,053 (GRCm39) S12P probably damaging Het
Maml3 A G 3: 52,011,473 (GRCm39) I31T unknown Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Minar2 T A 18: 59,208,739 (GRCm39) M129K probably damaging Het
Mysm1 A T 4: 94,840,450 (GRCm39) N655K probably benign Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrxn1 A G 17: 91,395,746 (GRCm39) W137R probably benign Het
Numb C T 12: 83,844,118 (GRCm39) probably null Het
Obsl1 A G 1: 75,482,480 (GRCm39) F130S probably damaging Het
Or2h1 T G 17: 37,404,295 (GRCm39) Q157P probably damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Pbx4 T C 8: 70,322,776 (GRCm39) V294A probably benign Het
Pde4dip A C 3: 97,664,312 (GRCm39) L524R possibly damaging Het
Plppr1 G A 4: 49,337,655 (GRCm39) A319T probably benign Het
Ppid A T 3: 79,500,925 (GRCm39) I32F probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr27 A G 5: 87,991,261 (GRCm39) E291G probably benign Het
Psme4 A T 11: 30,782,615 (GRCm39) K923N possibly damaging Het
Rab25 T C 3: 88,450,765 (GRCm39) T45A probably damaging Het
Rapgef1 C T 2: 29,612,239 (GRCm39) P630S probably benign Het
Rasa2 T C 9: 96,452,821 (GRCm39) D355G probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rtn4 A T 11: 29,658,634 (GRCm39) E929D probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Slk T G 19: 47,600,428 (GRCm39) I151S probably damaging Het
Spin1 T A 13: 51,298,506 (GRCm39) V175D probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tmem151b G C 17: 45,856,387 (GRCm39) P351R possibly damaging Het
Tmod1 A C 4: 46,061,043 (GRCm39) Y10S probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 T C 7: 63,858,182 (GRCm39) Y225H possibly damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Tyro3 A G 2: 119,639,298 (GRCm39) D335G probably benign Het
Unc79 C A 12: 102,977,538 (GRCm39) Y180* probably null Het
Upp1 A T 11: 9,084,872 (GRCm39) D197V possibly damaging Het
Vmn1r226 T A 17: 20,908,308 (GRCm39) M180K possibly damaging Het
Vtn T A 11: 78,392,724 (GRCm39) I434N probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp819 A G 7: 43,265,885 (GRCm39) T47A probably benign Het
Zyg11b G A 4: 108,123,127 (GRCm39) T280I probably damaging Het
Other mutations in Ciapin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0070:Ciapin1 UTSW 8 95,551,847 (GRCm39) missense possibly damaging 0.91
R0070:Ciapin1 UTSW 8 95,551,847 (GRCm39) missense possibly damaging 0.91
R0218:Ciapin1 UTSW 8 95,554,938 (GRCm39) missense probably damaging 0.98
R2197:Ciapin1 UTSW 8 95,555,787 (GRCm39) nonsense probably null
R2273:Ciapin1 UTSW 8 95,558,415 (GRCm39) missense probably damaging 0.98
R4020:Ciapin1 UTSW 8 95,555,814 (GRCm39) missense probably damaging 1.00
R5790:Ciapin1 UTSW 8 95,551,811 (GRCm39) intron probably benign
R7236:Ciapin1 UTSW 8 95,550,338 (GRCm39) missense
R8268:Ciapin1 UTSW 8 95,558,511 (GRCm39) missense probably benign 0.00
R8979:Ciapin1 UTSW 8 95,549,753 (GRCm39) missense probably damaging 1.00
R9114:Ciapin1 UTSW 8 95,558,400 (GRCm39) critical splice donor site probably null
R9696:Ciapin1 UTSW 8 95,555,065 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCATGCAGAAATTACCCACTG -3'
(R):5'- TTGGAGGACGCACGGTTTAC -3'

Sequencing Primer
(F):5'- ATTACCCACTGCATGCCCGG -3'
(R):5'- ACGCACGGTTTACACTGC -3'
Posted On 2014-08-25