Incidental Mutation 'R2197:Ciapin1'
ID 238421
Institutional Source Beutler Lab
Gene Symbol Ciapin1
Ensembl Gene ENSMUSG00000031781
Gene Name cytokine induced apoptosis inhibitor 1
Synonyms anamorsin, 2810413N20Rik
MMRRC Submission 040199-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2197 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95546432-95564986 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 95555787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 128 (K128*)
Ref Sequence ENSEMBL: ENSMUSP00000125451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034233] [ENSMUST00000161792] [ENSMUST00000162538]
AlphaFold Q8WTY4
Predicted Effect probably null
Transcript: ENSMUST00000034233
AA Change: K128*
SMART Domains Protein: ENSMUSP00000034233
Gene: ENSMUSG00000031781
AA Change: K128*

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: ENSMUST00000160245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160898
Predicted Effect probably null
Transcript: ENSMUST00000161762
AA Change: K54*
SMART Domains Protein: ENSMUSP00000123794
Gene: ENSMUSG00000031781
AA Change: K54*

DomainStartEndE-ValueType
PDB:2LD4|A 1 171 9e-95 PDB
SCOP:d1khha_ 8 146 2e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000161792
AA Change: K73*
SMART Domains Protein: ENSMUSP00000125474
Gene: ENSMUSG00000031781
AA Change: K73*

DomainStartEndE-ValueType
PDB:2LD4|A 10 76 3e-31 PDB
Pfam:CIAPIN1 125 158 1.8e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000162538
AA Change: K128*
SMART Domains Protein: ENSMUSP00000125451
Gene: ENSMUSG00000031781
AA Change: K128*

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 probably benign
Transcript: ENSMUST00000162357
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A T 11: 102,660,750 (GRCm39) I94F possibly damaging Het
Ankrd50 A T 3: 38,509,741 (GRCm39) D875E probably damaging Het
Arf3 T C 15: 98,639,285 (GRCm39) N60S probably benign Het
Atxn2 T G 5: 121,944,280 (GRCm39) probably null Het
B3gnt8 A T 7: 25,328,373 (GRCm39) I268F probably benign Het
Bmp1 T A 14: 70,723,712 (GRCm39) D708V possibly damaging Het
C1s2 A G 6: 124,609,069 (GRCm39) S163P probably damaging Het
C3 A G 17: 57,526,623 (GRCm39) I786T probably benign Het
Cacna2d2 T A 9: 107,404,602 (GRCm39) L1138Q probably damaging Het
Cage1 T A 13: 38,207,029 (GRCm39) Y272F probably damaging Het
Cd300ld A T 11: 114,875,058 (GRCm39) M192K possibly damaging Het
Cdc5l A T 17: 45,718,745 (GRCm39) F624I probably benign Het
Cdh8 T A 8: 99,922,897 (GRCm39) Q333L probably damaging Het
Col6a3 T A 1: 90,731,467 (GRCm39) E988D probably benign Het
Crip3 A G 17: 46,740,338 (GRCm39) E46G probably damaging Het
D5Ertd579e A G 5: 36,772,137 (GRCm39) S753P possibly damaging Het
Dock6 T A 9: 21,744,177 (GRCm39) D126V probably damaging Het
Duxf4 T A 10: 58,072,158 (GRCm39) I19F possibly damaging Het
Dvl3 A G 16: 20,342,506 (GRCm39) E153G probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Exoc8 A G 8: 125,622,477 (GRCm39) L630P probably damaging Het
Fam227a G A 15: 79,507,668 (GRCm39) T454M probably damaging Het
Flnc A T 6: 29,459,134 (GRCm39) D2472V probably damaging Het
Galnt4 G A 10: 98,944,509 (GRCm39) G78E probably damaging Het
Ghr A T 15: 3,362,956 (GRCm39) L172* probably null Het
Gjb5 A T 4: 127,250,063 (GRCm39) probably null Het
Hdac5 T C 11: 102,095,340 (GRCm39) D427G probably damaging Het
Hsd17b4 G A 18: 50,316,369 (GRCm39) probably null Het
Kcnab1 T C 3: 65,017,368 (GRCm39) I59T probably benign Het
Kcnh7 A G 2: 62,607,950 (GRCm39) Y544H probably damaging Het
Kdm7a A G 6: 39,123,870 (GRCm39) S765P probably damaging Het
Lama1 A T 17: 68,059,936 (GRCm39) H675L probably benign Het
Lemd3 CCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCCTCC 10: 120,814,432 (GRCm39) probably benign Het
Llgl1 T C 11: 60,600,865 (GRCm39) S654P possibly damaging Het
Lvrn G T 18: 47,011,409 (GRCm39) M455I probably benign Het
Mfsd12 T A 10: 81,193,568 (GRCm39) L46Q probably damaging Het
Mtcl1 A T 17: 66,673,427 (GRCm39) M783K probably benign Het
Mthfd1l A T 10: 3,978,399 (GRCm39) T420S probably damaging Het
Mybphl T A 3: 108,284,635 (GRCm39) I294N probably damaging Het
Or4c52 G A 2: 89,845,768 (GRCm39) G165S probably damaging Het
Or4f14b T C 2: 111,775,658 (GRCm39) T48A possibly damaging Het
Or52ab7 T A 7: 102,977,831 (GRCm39) L46* probably null Het
Oxa1l A T 14: 54,598,924 (GRCm39) Q70L probably benign Het
Pcdhac2 A T 18: 37,279,185 (GRCm39) I722F probably damaging Het
Pde4d A G 13: 110,084,924 (GRCm39) D460G probably damaging Het
Pth1r CGGG CGGGGGG 9: 110,556,058 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,152 (GRCm39) S334P probably benign Het
Ror2 C T 13: 53,439,816 (GRCm39) probably null Het
Scnn1g G C 7: 121,366,519 (GRCm39) W572S probably damaging Het
Skint5 G A 4: 113,798,046 (GRCm39) S179L probably damaging Het
Slc22a2 G T 17: 12,817,949 (GRCm39) G175V probably damaging Het
Spaca6 G A 17: 18,056,416 (GRCm39) probably null Het
Tbc1d30 C T 10: 121,140,312 (GRCm39) R207H probably damaging Het
Tdrd5 A G 1: 156,087,435 (GRCm39) I829T probably benign Het
Tmcc3 T C 10: 94,414,780 (GRCm39) S161P probably damaging Het
Tmem150b A G 7: 4,719,353 (GRCm39) V189A probably benign Het
Tmem248 A G 5: 130,260,597 (GRCm39) D54G probably benign Het
Trmt1 T A 8: 85,417,487 (GRCm39) S121T probably damaging Het
Tyk2 C T 9: 21,026,503 (GRCm39) V698M probably damaging Het
Usp17la A G 7: 104,509,919 (GRCm39) R175G probably damaging Het
Vav1 A G 17: 57,610,140 (GRCm39) N464S probably benign Het
Vmn2r57 T G 7: 41,078,249 (GRCm39) probably null Het
Vmn2r78 A G 7: 86,570,535 (GRCm39) Y351C 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
R1980:Ciapin1 UTSW 8 95,559,161 (GRCm39) missense probably benign 0.00
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'- AGCTCTAGGAAGACCAGTGC -3'
(R):5'- ATCTAACATTCTTTGGGAGGGG -3'

Sequencing Primer
(F):5'- CGAGTCTTCAGAAGGAACCTGTTC -3'
(R):5'- CCAGAGGTCTTGAATTCAATTCCCAG -3'
Posted On 2014-10-02