Incidental Mutation 'R3500:Czib'
ID 273751
Institutional Source Beutler Lab
Gene Symbol Czib
Ensembl Gene ENSMUSG00000028608
Gene Name CXXC motif containing zinc binding protein
Synonyms 0610037L13Rik
MMRRC Submission 040663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R3500 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 107746982-107755000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107748710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 83 (R83W)
Ref Sequence ENSEMBL: ENSMUSP00000119565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030348] [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000125107] [ENSMUST00000120473] [ENSMUST00000128474] [ENSMUST00000132417] [ENSMUST00000135454] [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 possibly damaging
Transcript: ENSMUST00000106726
AA Change: R47W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608
AA Change: R47W

DomainStartEndE-ValueType
Pfam:DUF866 1 114 1.9e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106727
AA Change: R47W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: R47W

DomainStartEndE-ValueType
Pfam:DUF866 1 154 1.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119394
AA Change: R47W

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: R47W

DomainStartEndE-ValueType
Pfam:DUF866 1 146 8.1e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125107
AA Change: R83W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: R83W

DomainStartEndE-ValueType
Pfam:DUF866 40 194 2.2e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153593
Predicted Effect probably damaging
Transcript: ENSMUST00000120473
AA Change: R47W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: R47W

DomainStartEndE-ValueType
Pfam:DUF866 1 138 2.7e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000128474
AA Change: R48W

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608
AA Change: R48W

DomainStartEndE-ValueType
Pfam:DUF866 2 66 4.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132417
AA Change: R83W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608
AA Change: R83W

DomainStartEndE-ValueType
Pfam:DUF866 37 98 1.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135454
AA Change: R47W

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: R47W

DomainStartEndE-ValueType
Pfam:DUF866 1 160 1.7e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127715
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 0.3397 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 A G 15: 102,355,501 (GRCm39) D188G probably benign Het
Arl15 G A 13: 114,104,228 (GRCm39) E102K probably damaging Het
Atp10d C T 5: 72,403,066 (GRCm39) R319C probably damaging Het
Cetn4 A T 3: 37,364,109 (GRCm39) F34I probably benign Het
Chd8 G T 14: 52,443,110 (GRCm39) H510N probably benign Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Clcn1 T C 6: 42,269,929 (GRCm39) S251P probably damaging Het
Clstn3 A T 6: 124,408,670 (GRCm39) C881S probably benign Het
Cnot4 G A 6: 35,057,076 (GRCm39) probably benign Het
Copg1 G A 6: 87,872,905 (GRCm39) probably benign Het
Eftud2 A G 11: 102,735,006 (GRCm39) M631T probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Fancb A G X: 163,779,104 (GRCm39) T721A probably damaging Het
Fat2 A G 11: 55,151,342 (GRCm39) F3800S probably damaging Het
Fgd2 T C 17: 29,584,575 (GRCm39) V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 (GRCm39) probably benign Het
Gata4 C T 14: 63,437,982 (GRCm39) G390S possibly damaging Het
Gm9396 C A 3: 129,862,144 (GRCm39) noncoding transcript Het
Grid2 T C 6: 63,480,383 (GRCm39) S66P probably damaging Het
Hdac9 C A 12: 34,487,352 (GRCm39) M16I probably benign Het
Kmt2c A T 5: 25,504,477 (GRCm39) D3610E probably benign Het
Lactb2 A T 1: 13,730,673 (GRCm39) M1K probably null Het
Ldhb T C 6: 142,447,173 (GRCm39) D47G probably damaging Het
Map3k11 A T 19: 5,740,275 (GRCm39) M1L probably benign Het
Mecom C T 3: 30,035,061 (GRCm39) R205H probably damaging Het
Mob1b A G 5: 88,897,479 (GRCm39) D129G probably benign Het
Nbea A G 3: 55,588,431 (GRCm39) V2436A possibly damaging Het
Neb T C 2: 52,215,797 (GRCm39) N170S probably damaging Het
Nedd4l G A 18: 65,345,931 (GRCm39) A848T probably damaging Het
Nr5a1 G A 2: 38,597,952 (GRCm39) R282* probably null Het
Or4c102 A G 2: 88,422,285 (GRCm39) T46A probably damaging Het
Or4c119 C T 2: 88,987,403 (GRCm39) G39R probably damaging Het
Or4d10c A G 19: 12,065,421 (GRCm39) V245A possibly damaging Het
Or4f47 T C 2: 111,972,472 (GRCm39) F61L possibly damaging Het
Or52e2 T C 7: 102,804,297 (GRCm39) Y219C probably damaging Het
Pcdhb19 T A 18: 37,630,532 (GRCm39) L109* probably null Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Podxl2 T C 6: 88,819,900 (GRCm39) D554G probably damaging Het
Ppp3ca A G 3: 136,587,273 (GRCm39) T252A probably benign Het
Pramel6 A G 2: 87,339,569 (GRCm39) H111R probably damaging Het
Prr19 A G 7: 25,002,692 (GRCm39) E130G probably damaging Het
Rab44 C T 17: 29,357,041 (GRCm39) A57V probably benign Het
Rhbdl3 T C 11: 80,210,531 (GRCm39) F95L probably damaging Het
Sdk1 G T 5: 141,992,371 (GRCm39) probably benign Het
Tas2r122 T A 6: 132,688,523 (GRCm39) K123N probably damaging Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Trpm2 A G 10: 77,768,136 (GRCm39) F788L probably benign Het
Ttn G A 2: 76,560,628 (GRCm39) L29258F probably damaging Het
Ttn G T 2: 76,591,509 (GRCm39) F19307L possibly damaging Het
Vmn2r23 T C 6: 123,690,129 (GRCm39) I335T possibly damaging 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
R0787:Czib UTSW 4 107,747,326 (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'- ATCGGCTCATGTCCCTATTG -3'
(R):5'- AAGTCCCTCTTGATTTTGAACTCTG -3'

Sequencing Primer
(F):5'- CACATTTGGGCTACACAGTG -3'
(R):5'- CACATTGGTGCTCTCTCAA -3'
Posted On 2015-04-02