Incidental Mutation 'R3080:Ciao2b'
ID 265385
Institutional Source Beutler Lab
Gene Symbol Ciao2b
Ensembl Gene ENSMUSG00000031879
Gene Name cytosolic iron-sulfur assembly component 2B
Synonyms Fam96b, 1110019N10Rik
MMRRC Submission 040570-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R3080 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105366471-105368360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 105368259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 22 (R22G)
Ref Sequence ENSEMBL: ENSMUSP00000148786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093234] [ENSMUST00000163140] [ENSMUST00000164884]
AlphaFold Q9D187
Predicted Effect probably benign
Transcript: ENSMUST00000093234
AA Change: R22G

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090921
Gene: ENSMUSG00000031879
AA Change: R22G

DomainStartEndE-ValueType
low complexity region 3 10 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163140
AA Change: R22G

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000164884
AA Change: R22G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132725
Gene: ENSMUSG00000031879
AA Change: R22G

DomainStartEndE-ValueType
low complexity region 3 10 N/A INTRINSIC
Pfam:DUF59 43 121 8.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171130
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,627,503 (GRCm39) L581V probably benign Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Cdc42bpb A G 12: 111,262,252 (GRCm39) I75T probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Clca4a T A 3: 144,669,551 (GRCm39) K333N probably damaging Het
Copa G T 1: 171,940,716 (GRCm39) D710Y probably damaging Het
Cyp3a25 T A 5: 145,935,341 (GRCm39) I92F probably benign Het
Dcx T A X: 142,706,266 (GRCm39) D175V probably damaging Het
Fam76b G A 9: 13,744,458 (GRCm39) G185D probably benign Het
Fastkd5 T C 2: 130,457,373 (GRCm39) M406V possibly damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Gak T C 5: 108,761,468 (GRCm39) K188E possibly damaging Het
Gemin2 G A 12: 59,071,877 (GRCm39) C230Y probably damaging Het
Gm5150 A C 3: 16,045,085 (GRCm39) S47A possibly damaging Het
H3c2 A G 13: 23,936,481 (GRCm39) H40R possibly damaging Het
Herc3 A T 6: 58,833,631 (GRCm39) probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Igkv13-54-1 A G 6: 69,594,454 (GRCm39) probably null Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Ltbp3 GTA GTATA 19: 5,806,916 (GRCm39) probably null Het
Map4k2 G A 19: 6,403,218 (GRCm39) E774K probably damaging Het
Mbtps1 A G 8: 120,257,944 (GRCm39) V431A probably benign Het
Mbtps1 T C 8: 120,265,602 (GRCm39) D315G probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or6d14 T G 6: 116,534,178 (GRCm39) V264G probably damaging Het
Pcdhb3 T G 18: 37,434,535 (GRCm39) L167R probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Shcbp1l A G 1: 153,311,783 (GRCm39) E312G possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc1a2 T G 2: 102,578,901 (GRCm39) L272R probably damaging Het
Slc35a5 A T 16: 44,964,758 (GRCm39) S152T probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tbr1 C T 2: 61,637,635 (GRCm39) Q65* probably null Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r1 A G 3: 63,997,205 (GRCm39) D287G probably damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Zfp35 T A 18: 24,136,367 (GRCm39) I237N probably damaging Het
Other mutations in Ciao2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0362:Ciao2b UTSW 8 105,368,222 (GRCm39) missense probably null 0.95
R1635:Ciao2b UTSW 8 105,367,620 (GRCm39) missense possibly damaging 0.73
R1699:Ciao2b UTSW 8 105,366,718 (GRCm39) missense probably damaging 1.00
R5358:Ciao2b UTSW 8 105,368,282 (GRCm39) missense probably damaging 1.00
R7523:Ciao2b UTSW 8 105,368,404 (GRCm39) start gained probably benign
R7998:Ciao2b UTSW 8 105,367,668 (GRCm39) missense probably damaging 1.00
R8801:Ciao2b UTSW 8 105,367,599 (GRCm39) critical splice donor site probably null
R8849:Ciao2b UTSW 8 105,367,599 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTGGCCCACTCAAAATCTCCG -3'
(R):5'- TTCTAGCAAACTACTCGCCG -3'

Sequencing Primer
(F):5'- GCAACGCCTAACCGGGAC -3'
(R):5'- TACTCGCCGAATCCCTGGAG -3'
Posted On 2015-02-05