Incidental Mutation 'R0787:Czib'
ID 76895
Institutional Source Beutler Lab
Gene Symbol Czib
Ensembl Gene ENSMUSG00000028608
Gene Name CXXC motif containing zinc binding protein
Synonyms 0610037L13Rik
MMRRC Submission 038967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R0787 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 107746982-107755000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107747326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 6 (L6Q)
Ref Sequence ENSEMBL: ENSMUSP00000114234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030348] [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000125107] [ENSMUST00000128474] [ENSMUST00000120473] [ENSMUST00000135454] [ENSMUST00000132417] [ENSMUST00000134254]
AlphaFold Q8BHG2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030347
Predicted Effect probably benign
Transcript: ENSMUST00000030348
SMART Domains Protein: ENSMUSP00000030348
Gene: ENSMUSG00000028609

DomainStartEndE-ValueType
Pfam:Mago_nashi 5 146 7.5e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106726
AA Change: L6Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608
AA Change: L6Q

DomainStartEndE-ValueType
Pfam:DUF866 1 114 1.9e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106727
AA Change: L6Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: L6Q

DomainStartEndE-ValueType
Pfam:DUF866 1 154 1.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119394
AA Change: L6Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: L6Q

DomainStartEndE-ValueType
Pfam:DUF866 1 146 8.1e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125107
AA Change: L42Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: L42Q

DomainStartEndE-ValueType
Pfam:DUF866 40 194 2.2e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128474
AA Change: L7Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608
AA Change: L7Q

DomainStartEndE-ValueType
Pfam:DUF866 2 66 4.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120473
AA Change: L6Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: L6Q

DomainStartEndE-ValueType
Pfam:DUF866 1 138 2.7e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135454
AA Change: L6Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: L6Q

DomainStartEndE-ValueType
Pfam:DUF866 1 160 1.7e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132417
AA Change: L42Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608
AA Change: L42Q

DomainStartEndE-ValueType
Pfam:DUF866 37 98 1.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141376
Predicted Effect probably benign
Transcript: ENSMUST00000134254
SMART Domains Protein: ENSMUSP00000119309
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 1 46 3e-16 PFAM
Meta Mutation Damage Score 0.6261 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001F09Rik A T 14: 43,202,950 (GRCm39) probably null Het
Abca8a T A 11: 109,933,814 (GRCm39) Y1197F possibly damaging Het
Abcc2 T C 19: 43,786,955 (GRCm39) probably null Het
Adamts16 A T 13: 70,886,948 (GRCm39) C979S probably damaging Het
Agap2 T A 10: 126,921,019 (GRCm39) D523E unknown Het
Ankfy1 T A 11: 72,651,122 (GRCm39) I1024N probably damaging Het
Ankrd13c A G 3: 157,700,315 (GRCm39) S379G probably null Het
Arhgap40 T C 2: 158,389,710 (GRCm39) S625P probably benign Het
Armc12 G C 17: 28,757,740 (GRCm39) A291P probably damaging Het
Armc9 A G 1: 86,130,227 (GRCm39) N524D probably damaging Het
Col12a1 G T 9: 79,545,767 (GRCm39) T2305K probably damaging Het
Cyp2c54 T C 19: 40,036,079 (GRCm39) N277S probably benign Het
Dennd2b G T 7: 109,124,827 (GRCm39) R1068S possibly damaging Het
E130311K13Rik A T 3: 63,827,719 (GRCm39) V129E probably benign Het
Ehbp1l1 T C 19: 5,772,696 (GRCm39) D79G possibly damaging Het
Epb41l1 A G 2: 156,336,010 (GRCm39) E58G probably damaging Het
Fam217b T A 2: 178,062,702 (GRCm39) V222E probably benign Het
Fat1 T A 8: 45,493,592 (GRCm39) Y3913N probably damaging Het
Fgd4 A G 16: 16,241,765 (GRCm39) probably benign Het
Hltf A T 3: 20,160,610 (GRCm39) D759V probably damaging Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Isg15 C T 4: 156,284,396 (GRCm39) R44H probably benign Het
Itga4 C T 2: 79,109,497 (GRCm39) T232I probably benign Het
Kntc1 C A 5: 123,934,167 (GRCm39) H1399Q probably benign Het
Lig1 A C 7: 13,032,995 (GRCm39) K499Q probably benign Het
Lrrn3 C A 12: 41,504,230 (GRCm39) C29F probably damaging Het
Mtmr10 T C 7: 63,950,363 (GRCm39) I136T possibly damaging Het
Naip1 A G 13: 100,562,604 (GRCm39) Y854H probably benign Het
Or6c201 T C 10: 128,969,395 (GRCm39) N81D possibly damaging Het
Pcdh9 G A 14: 94,124,193 (GRCm39) A659V possibly damaging Het
Phf20l1 T A 15: 66,487,479 (GRCm39) probably benign Het
Phgdh A G 3: 98,241,865 (GRCm39) V83A probably damaging Het
Pik3r1 A T 13: 101,827,031 (GRCm39) M326K probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd1l2 T C 8: 117,802,916 (GRCm39) D235G possibly damaging Het
Pkhd1l1 C A 15: 44,392,660 (GRCm39) P1665Q probably damaging Het
Ppp1r7 A G 1: 93,292,678 (GRCm39) T326A probably damaging Het
Prr22 A T 17: 57,078,072 (GRCm39) Y75F possibly damaging Het
Ptov1 A C 7: 44,514,894 (GRCm39) probably null Het
Rasal2 A G 1: 156,986,266 (GRCm39) S766P probably damaging Het
Shmt1 T C 11: 60,683,802 (GRCm39) T337A probably benign Het
Tbc1d4 A T 14: 101,686,645 (GRCm39) I1168N probably damaging Het
Tecpr2 T C 12: 110,912,777 (GRCm39) V1126A probably benign Het
Tep1 A T 14: 51,066,687 (GRCm39) S2304T possibly damaging Het
Tiam1 C A 16: 89,586,449 (GRCm39) R1446M probably damaging Het
Tmem87a T C 2: 120,200,965 (GRCm39) I425V probably benign Het
Ubr3 T C 2: 69,781,765 (GRCm39) probably benign Het
Ubxn7 T A 16: 32,200,581 (GRCm39) probably benign Het
Vmn2r13 A G 5: 109,304,713 (GRCm39) S573P probably damaging Het
Wdfy3 A T 5: 102,105,254 (GRCm39) V191E probably damaging Het
Zdhhc3 A T 9: 122,912,688 (GRCm39) C153* probably null Het
Zfp407 A T 18: 84,227,147 (GRCm39) V2154D probably damaging Het
Zfp407 A G 18: 84,227,471 (GRCm39) V2046A probably benign Het
Zfr T A 15: 12,140,634 (GRCm39) I227N unknown Het
Other mutations in Czib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Czib APN 4 107,752,065 (GRCm39) splice site probably benign
horribilis UTSW 4 107,749,195 (GRCm39) missense probably damaging 1.00
R3500:Czib UTSW 4 107,748,710 (GRCm39) missense probably damaging 1.00
R4778:Czib UTSW 4 107,749,195 (GRCm39) missense probably damaging 1.00
R5940:Czib UTSW 4 107,750,485 (GRCm39) intron probably benign
R6644:Czib UTSW 4 107,752,119 (GRCm39) missense probably damaging 0.99
R7164:Czib UTSW 4 107,752,087 (GRCm39) missense not run
R7535:Czib UTSW 4 107,752,097 (GRCm39) missense probably benign 0.36
R8676:Czib UTSW 4 107,752,796 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTACGACGGGTCGGAAAGCAG -3'
(R):5'- GATGCCTGGTTAAGCACCTCAGAC -3'

Sequencing Primer
(F):5'- AGCGACTTAACGTGGACC -3'
(R):5'- CTCAGACCCGGTGGAACTTTTAG -3'
Posted On 2013-10-16