Incidental Mutation 'R7572:Ciao1'
ID 586063
Institutional Source Beutler Lab
Gene Symbol Ciao1
Ensembl Gene ENSMUSG00000003662
Gene Name cytosolic iron-sulfur protein assembly 1
Synonyms Wdr39
MMRRC Submission 045658-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7572 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 127082858-127089736 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 127088631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 97 (C97*)
Ref Sequence ENSEMBL: ENSMUSP00000003759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003759] [ENSMUST00000035871] [ENSMUST00000172636] [ENSMUST00000174030] [ENSMUST00000174288] [ENSMUST00000174503] [ENSMUST00000174863]
AlphaFold Q99KN2
Predicted Effect probably null
Transcript: ENSMUST00000003759
AA Change: C97*
SMART Domains Protein: ENSMUSP00000003759
Gene: ENSMUSG00000003662
AA Change: C97*

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
WD40 49 89 4.27e-8 SMART
WD40 94 133 5.22e-12 SMART
WD40 139 178 6.04e-8 SMART
WD40 183 222 9.22e-13 SMART
WD40 240 280 8.04e-4 SMART
WD40 291 332 5.26e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035871
SMART Domains Protein: ENSMUSP00000035434
Gene: ENSMUSG00000034850

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Blast:Sec63 37 179 3e-98 BLAST
low complexity region 202 216 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000172636
AA Change: C48S
SMART Domains Protein: ENSMUSP00000134199
Gene: ENSMUSG00000003662
AA Change: C48S

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000174030
AA Change: C97*
SMART Domains Protein: ENSMUSP00000134189
Gene: ENSMUSG00000003662
AA Change: C97*

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
WD40 49 89 4.27e-8 SMART
WD40 94 133 5.22e-12 SMART
WD40 139 178 6.04e-8 SMART
WD40 183 222 9.22e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174288
SMART Domains Protein: ENSMUSP00000134629
Gene: ENSMUSG00000034850

DomainStartEndE-ValueType
Blast:Sec63 1 95 1e-60 BLAST
low complexity region 118 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174503
SMART Domains Protein: ENSMUSP00000133701
Gene: ENSMUSG00000034850

DomainStartEndE-ValueType
low complexity region 3 24 N/A INTRINSIC
Blast:Sec63 37 124 8e-37 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000174863
AA Change: C97*
SMART Domains Protein: ENSMUSP00000134159
Gene: ENSMUSG00000003662
AA Change: C97*

DomainStartEndE-ValueType
WD40 4 44 6.73e-6 SMART
WD40 49 89 4.27e-8 SMART
WD40 94 133 5.22e-12 SMART
WD40 139 176 1.38e1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (56/59)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,380,128 (GRCm39) T57S possibly damaging Het
Adamts1 A G 16: 85,594,629 (GRCm39) Y670H possibly damaging Het
Akr1b7 A T 6: 34,396,343 (GRCm39) I185F probably damaging Het
Ankfn1 T C 11: 89,312,097 (GRCm39) N683D probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Chrna5 T A 9: 54,913,749 (GRCm39) W432R probably damaging Het
Chrng T A 1: 87,136,836 (GRCm39) L235Q probably damaging Het
Cpt2 G T 4: 107,764,745 (GRCm39) H340N probably damaging Het
Dmtn A T 14: 70,842,777 (GRCm39) M328K possibly damaging Het
Dusp10 T A 1: 183,806,506 (GRCm39) V413E probably damaging Het
Epha3 A T 16: 63,431,443 (GRCm39) L487* probably null Het
Esco2 A G 14: 66,068,641 (GRCm39) V223A probably damaging Het
Fryl A T 5: 73,245,739 (GRCm39) D1139E possibly damaging Het
Gemin4 A G 11: 76,104,408 (GRCm39) S118P probably damaging Het
Gm3604 A G 13: 62,518,060 (GRCm39) I79T probably damaging Het
Gpatch3 T C 4: 133,302,117 (GRCm39) V16A probably benign Het
Hcn4 A G 9: 58,731,063 (GRCm39) N90S unknown Het
Hr C T 14: 70,799,293 (GRCm39) H593Y possibly damaging Het
Igkv4-50 A G 6: 69,677,951 (GRCm39) V51A probably damaging Het
Insr C A 8: 3,223,602 (GRCm39) V844F probably benign Het
Iqcn T C 8: 71,162,075 (GRCm39) S423P probably benign Het
Kcns2 T C 15: 34,839,318 (GRCm39) F227S possibly damaging Het
Map4k1 A G 7: 28,686,563 (GRCm39) I162V probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurog2 A G 3: 127,427,550 (GRCm39) E58G probably damaging Het
Or4x6 T C 2: 89,949,087 (GRCm39) Y285C probably damaging Het
Or5h25 T A 16: 58,930,793 (GRCm39) Y60F probably damaging Het
Or7e174 T G 9: 20,012,154 (GRCm39) L33W probably damaging Het
Orc4 A T 2: 48,800,248 (GRCm39) M300K probably benign Het
Plch1 T C 3: 63,648,105 (GRCm39) D422G possibly damaging Het
Prox1 T C 1: 189,855,583 (GRCm39) E683G probably benign Het
Pxdn A G 12: 30,056,704 (GRCm39) D1305G probably damaging Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rex2 T G 4: 147,142,329 (GRCm39) I272M probably damaging Het
Rpa2 T C 4: 132,496,014 (GRCm39) S12P possibly damaging Het
Samd15 C A 12: 87,248,350 (GRCm39) P345Q probably damaging Het
Sema5a T A 15: 32,673,574 (GRCm39) I804N probably damaging Het
Sgsm3 G A 15: 80,891,667 (GRCm39) R165H possibly damaging Het
Slc22a30 T G 19: 8,313,072 (GRCm39) M467L unknown Het
Slc2a5 T C 4: 150,226,642 (GRCm39) I368T probably benign Het
Slc8a1 A T 17: 81,749,200 (GRCm39) probably null Het
Snap91 T C 9: 86,688,547 (GRCm39) T331A possibly damaging Het
Soat2 G T 15: 102,062,456 (GRCm39) probably null Het
Sptbn4 C A 7: 27,071,697 (GRCm39) R1589L probably damaging Het
Stk38l A G 6: 146,677,152 (GRCm39) Y443C probably damaging Het
Sult5a1 T C 8: 123,872,117 (GRCm39) I242V probably benign Het
Susd3 T C 13: 49,384,638 (GRCm39) R262G probably benign Het
Syt9 A G 7: 107,035,784 (GRCm39) D267G probably damaging Het
Tbce A G 13: 14,185,172 (GRCm39) V172A probably benign Het
Tcstv3 A T 13: 120,779,107 (GRCm39) D2V possibly damaging Het
Tmod1 T A 4: 46,083,593 (GRCm39) S7R possibly damaging Het
Ubqln4 C T 3: 88,462,731 (GRCm39) probably benign Het
Ucp2 T C 7: 100,146,514 (GRCm39) probably null Het
Usp30 G A 5: 114,258,308 (GRCm39) S306N probably benign Het
Usp5 A T 6: 124,794,970 (GRCm39) I660N probably damaging Het
Vmn1r43 A G 6: 89,846,547 (GRCm39) V313A possibly damaging Het
Wdr49 T C 3: 75,265,744 (GRCm39) H234R possibly damaging Het
Wdr70 T C 15: 8,065,327 (GRCm39) D245G possibly damaging Het
Zc3h6 A G 2: 128,859,172 (GRCm39) K1068E probably benign Het
Zfp141 T C 7: 42,124,856 (GRCm39) K539E probably benign Het
Zfp758 T A 17: 22,593,872 (GRCm39) H119Q possibly damaging Het
Other mutations in Ciao1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Ciao1 APN 2 127,084,755 (GRCm39) missense probably benign
R1662:Ciao1 UTSW 2 127,086,857 (GRCm39) missense probably benign 0.01
R1703:Ciao1 UTSW 2 127,087,739 (GRCm39) missense probably benign 0.37
R1935:Ciao1 UTSW 2 127,088,380 (GRCm39) missense possibly damaging 0.95
R1940:Ciao1 UTSW 2 127,088,380 (GRCm39) missense possibly damaging 0.95
R2427:Ciao1 UTSW 2 127,088,611 (GRCm39) missense probably damaging 1.00
R5891:Ciao1 UTSW 2 127,089,054 (GRCm39) missense probably benign 0.08
R6295:Ciao1 UTSW 2 127,088,376 (GRCm39) missense probably damaging 1.00
R6388:Ciao1 UTSW 2 127,088,396 (GRCm39) nonsense probably null
R7211:Ciao1 UTSW 2 127,088,928 (GRCm39) critical splice donor site probably null
R7448:Ciao1 UTSW 2 127,087,678 (GRCm39) missense probably damaging 0.99
R8145:Ciao1 UTSW 2 127,087,726 (GRCm39) missense possibly damaging 0.90
R8245:Ciao1 UTSW 2 127,088,404 (GRCm39) missense probably damaging 1.00
R8912:Ciao1 UTSW 2 127,088,599 (GRCm39) missense possibly damaging 0.95
R9229:Ciao1 UTSW 2 127,089,062 (GRCm39) missense probably damaging 1.00
R9489:Ciao1 UTSW 2 127,087,684 (GRCm39) missense probably damaging 1.00
R9503:Ciao1 UTSW 2 127,084,916 (GRCm39) missense probably damaging 0.98
R9605:Ciao1 UTSW 2 127,087,684 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGTCAGGGACAAAGCTG -3'
(R):5'- GGCTTGGTCATATTAGTTACAGCC -3'

Sequencing Primer
(F):5'- CTGAAAGCCAGCGAGCTG -3'
(R):5'- GTTCATGACTGTAATGCCAGC -3'
Posted On 2019-10-24