Incidental Mutation 'R5789:Ciao3'
ID 448236
Institutional Source Beutler Lab
Gene Symbol Ciao3
Ensembl Gene ENSMUSG00000002280
Gene Name cytosolic iron-sulfur assembly component 3
Synonyms Narfl, 9030612I22Rik
MMRRC Submission 043383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5789 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 25992750-26002306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26000177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 303 (C303R)
Ref Sequence ENSEMBL: ENSMUSP00000117136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000077938] [ENSMUST00000131458] [ENSMUST00000133071] [ENSMUST00000134108] [ENSMUST00000140738] [ENSMUST00000138759] [ENSMUST00000150324] [ENSMUST00000145053]
AlphaFold Q7TMW6
Predicted Effect probably benign
Transcript: ENSMUST00000002350
SMART Domains Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 406 8.5e-95 PFAM
Fe_hyd_SSU 410 466 9.56e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077938
SMART Domains Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130861
Predicted Effect probably benign
Transcript: ENSMUST00000131458
SMART Domains Protein: ENSMUSP00000120281
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133071
SMART Domains Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134108
AA Change: C303R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: C303R

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 422 4e-85 PFAM
Fe_hyd_SSU 426 482 9.56e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137587
Predicted Effect probably benign
Transcript: ENSMUST00000140738
SMART Domains Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138759
SMART Domains Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150324
SMART Domains Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145053
SMART Domains Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Pfam:Lactamase_B 7 113 3.3e-16 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 97% (61/63)
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
Abcb11 A G 2: 69,076,108 (GRCm39) F1200S probably damaging Het
Ahnak A T 19: 8,979,685 (GRCm39) D323V probably benign Het
Aloxe3 T C 11: 69,017,265 (GRCm39) Y13H probably damaging Het
Aqp1 A G 6: 55,313,746 (GRCm39) I91V probably benign Het
C9orf72 T A 4: 35,226,112 (GRCm39) probably benign Het
Carmil1 A G 13: 24,305,831 (GRCm39) S318P probably damaging Het
Cdan1 A G 2: 120,560,016 (GRCm39) F383L probably benign Het
Col6a2 T A 10: 76,440,223 (GRCm39) E606V probably damaging Het
Col6a5 T C 9: 105,741,807 (GRCm39) T2371A possibly damaging Het
Cops3 T C 11: 59,721,106 (GRCm39) probably benign Het
Coq7 G T 7: 118,128,929 (GRCm39) H35Q possibly damaging Het
Cp T A 3: 20,011,454 (GRCm39) F3I probably benign Het
D630003M21Rik C T 2: 158,058,734 (GRCm39) E389K possibly damaging Het
Dclre1c A T 2: 3,438,993 (GRCm39) Q51L probably damaging Het
Dhx37 A C 5: 125,498,103 (GRCm39) I702S possibly damaging Het
Dnah3 G T 7: 119,542,822 (GRCm39) A3530D possibly damaging Het
Dnajc13 T C 9: 104,091,387 (GRCm39) R635G probably damaging Het
Dnhd1 A G 7: 105,354,217 (GRCm39) S3066G possibly damaging Het
Doc2b T A 11: 75,676,941 (GRCm39) H144L probably damaging Het
Eif2b3 T A 4: 116,885,692 (GRCm39) I78N probably damaging Het
Enpp1 A T 10: 24,523,137 (GRCm39) H767Q probably benign Het
Fam180a C A 6: 35,290,461 (GRCm39) *174L probably null Het
Gabra1 A T 11: 42,073,742 (GRCm39) probably benign Het
Gfral C T 9: 76,104,328 (GRCm39) R228Q probably benign Het
Gm16551 T A 9: 74,756,535 (GRCm39) noncoding transcript Het
Ifi213 C A 1: 173,396,360 (GRCm39) probably benign Het
Inpp4a T C 1: 37,411,410 (GRCm39) V358A possibly damaging Het
Kmt2a T C 9: 44,731,201 (GRCm39) probably benign Het
Mrgprb13 A T 7: 47,961,946 (GRCm39) noncoding transcript Het
Mtrex A T 13: 113,027,819 (GRCm39) N680K probably benign Het
Nckap5 A G 1: 125,955,439 (GRCm39) F371S probably damaging Het
Nudcd1 G A 15: 44,251,879 (GRCm39) Q428* probably null Het
Pcdhgc5 C A 18: 37,954,559 (GRCm39) P611Q probably damaging Het
Plekhb1 A T 7: 100,294,793 (GRCm39) Y193* probably null Het
Prrt1 T C 17: 34,850,931 (GRCm39) probably null Het
Ptpn12 G A 5: 21,194,013 (GRCm39) T753I possibly damaging Het
Samsn1 T C 16: 75,673,336 (GRCm39) D180G probably damaging Het
Sh2d2a T A 3: 87,756,820 (GRCm39) probably benign Het
Slc12a2 T A 18: 58,045,091 (GRCm39) probably null Het
Socs3 T A 11: 117,858,608 (GRCm39) Q150L probably benign Het
Supt6 A G 11: 78,124,412 (GRCm39) V23A unknown Het
Tcf12 T C 9: 71,792,518 (GRCm39) Y119C probably damaging Het
Them5 A G 3: 94,253,908 (GRCm39) E210G probably damaging Het
Tmem135 A G 7: 88,845,330 (GRCm39) F167S possibly damaging Het
Tmem170 A G 8: 112,593,032 (GRCm39) V134A possibly damaging Het
Trbv20 A G 6: 41,165,725 (GRCm39) Y50C probably damaging Het
Uroc1 A G 6: 90,321,179 (GRCm39) M252V probably damaging Het
Wasf1 G A 10: 40,802,570 (GRCm39) R75Q probably damaging Het
Xpnpep3 T A 15: 81,300,065 (GRCm39) probably benign Het
Yars1 C T 4: 129,090,690 (GRCm39) T78M probably damaging Het
Zdhhc16 T A 19: 41,926,572 (GRCm39) H98Q probably damaging Het
Zfp90 T C 8: 107,150,605 (GRCm39) L106P probably benign Het
Zscan22 T G 7: 12,637,853 (GRCm39) S82A 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
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
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'- GGGGACTGAGAAACCTTACTTGG -3'
(R):5'- TTGATAGGTGACTTCAGCCAC -3'

Sequencing Primer
(F):5'- ACCTTACTTGGGATCAGATGC -3'
(R):5'- CACGTGGATTCCAAAGAGCTCTTG -3'
Posted On 2016-12-15