Incidental Mutation 'R0097:Ciao3'
ID 41178
Institutional Source Beutler Lab
Gene Symbol Ciao3
Ensembl Gene ENSMUSG00000002280
Gene Name cytosolic iron-sulfur assembly component 3
Synonyms Narfl, 9030612I22Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0097 (G1)
Quality Score 212
Status Validated
Chromosome 17
Chromosomal Location 25992750-26002306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25995976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 67 (S67P)
Ref Sequence ENSEMBL: ENSMUSP00000117136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000131458] [ENSMUST00000134108] [ENSMUST00000140738]
AlphaFold Q7TMW6
Predicted Effect possibly damaging
Transcript: ENSMUST00000002350
AA Change: S67P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
AA Change: S67P

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 406 8.5e-95 PFAM
Fe_hyd_SSU 410 466 9.56e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130861
Predicted Effect silent
Transcript: ENSMUST00000131458
SMART Domains Protein: ENSMUSP00000120281
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000134108
AA Change: S67P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: S67P

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 422 4e-85 PFAM
Fe_hyd_SSU 426 482 9.56e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140738
SMART Domains Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183975
Meta Mutation Damage Score 0.0728 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted knock-out die before E10.5. Mice heterozygous for a targeted allele exhibit partial lethality between E10.5 and birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign Het
Other mutations in Ciao3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Ciao3 APN 17 25,999,294 (GRCm39) missense possibly damaging 0.83
IGL02266:Ciao3 APN 17 25,999,300 (GRCm39) missense possibly damaging 0.91
IGL02537:Ciao3 APN 17 25,997,916 (GRCm39) unclassified probably benign
IGL02926:Ciao3 APN 17 26,001,128 (GRCm39) missense probably benign
napoleon UTSW 17 26,001,226 (GRCm39) makesense probably null
R0097:Ciao3 UTSW 17 25,995,976 (GRCm39) missense possibly damaging 0.94
R0723:Ciao3 UTSW 17 26,000,795 (GRCm39) missense probably damaging 1.00
R1219:Ciao3 UTSW 17 25,994,075 (GRCm39) missense probably damaging 1.00
R1370:Ciao3 UTSW 17 25,995,962 (GRCm39) missense probably benign 0.24
R4737:Ciao3 UTSW 17 26,000,283 (GRCm39) missense probably damaging 1.00
R4739:Ciao3 UTSW 17 26,000,283 (GRCm39) missense probably damaging 1.00
R4740:Ciao3 UTSW 17 26,000,283 (GRCm39) missense probably damaging 1.00
R4747:Ciao3 UTSW 17 25,999,327 (GRCm39) missense probably benign 0.04
R4826:Ciao3 UTSW 17 25,999,306 (GRCm39) missense probably damaging 1.00
R5382:Ciao3 UTSW 17 25,995,894 (GRCm39) unclassified probably benign
R5789:Ciao3 UTSW 17 26,000,177 (GRCm39) missense probably benign
R7275:Ciao3 UTSW 17 25,994,108 (GRCm39) missense possibly damaging 0.94
R7576:Ciao3 UTSW 17 25,997,944 (GRCm39) missense probably damaging 1.00
R7615:Ciao3 UTSW 17 26,001,103 (GRCm39) missense probably benign 0.01
R7706:Ciao3 UTSW 17 26,001,226 (GRCm39) makesense probably null
R7911:Ciao3 UTSW 17 25,999,372 (GRCm39) missense probably benign 0.16
R8103:Ciao3 UTSW 17 25,996,395 (GRCm39) missense probably benign 0.02
R9322:Ciao3 UTSW 17 25,998,548 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGAGCCCAGTCTGCTCTCATTGC -3'
(R):5'- GTCAGACATCACTAACACGGGTCAC -3'

Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- CTAACACGGGTCACTGGGAG -3'
Posted On 2013-05-23