Incidental Mutation 'R8676:Czib'
ID 661371
Institutional Source Beutler Lab
Gene Symbol Czib
Ensembl Gene ENSMUSG00000028608
Gene Name CXXC motif containing zinc binding protein
Synonyms 0610037L13Rik
MMRRC Submission 068531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R8676 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107746982-107755000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107752796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 152 (N152D)
Ref Sequence ENSEMBL: ENSMUSP00000113991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000120473] [ENSMUST00000125107] [ENSMUST00000128474] [ENSMUST00000132417] [ENSMUST00000134254] [ENSMUST00000135454]
AlphaFold Q8BHG2
Predicted Effect probably benign
Transcript: ENSMUST00000106726
SMART Domains Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 1 114 1.9e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106727
SMART Domains Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 1 154 1.2e-62 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000119394
AA Change: N152D
SMART Domains Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: N152D

DomainStartEndE-ValueType
Pfam:DUF866 1 146 8.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120473
SMART Domains Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 1 138 2.7e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125107
SMART Domains Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 40 194 2.2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128474
SMART Domains Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 2 66 4.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132417
SMART Domains Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608

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

DomainStartEndE-ValueType
Pfam:DUF866 1 46 3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135454
SMART Domains Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 1 160 1.7e-74 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (54/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 G A 4: 144,396,683 (GRCm39) R350C possibly damaging Het
Acsm3 T A 7: 119,374,392 (GRCm39) S281R probably damaging Het
Adipor2 G T 6: 119,340,447 (GRCm39) probably benign Het
Alk T C 17: 72,204,936 (GRCm39) S1079G probably damaging Het
Ankrd27 T C 7: 35,302,009 (GRCm39) probably null Het
Anxa6 C A 11: 54,892,108 (GRCm39) E283* probably null Het
Bnc2 T C 4: 84,194,550 (GRCm39) H858R possibly damaging Het
Btnl6 T C 17: 34,727,043 (GRCm39) S496G probably benign Het
Ccdc88a T C 11: 29,410,860 (GRCm39) S449P probably benign Het
Cdh23 A T 10: 60,246,689 (GRCm39) D916E probably damaging Het
Cfap43 A T 19: 47,736,456 (GRCm39) L1345H possibly damaging Het
Cyld A T 8: 89,456,138 (GRCm39) H396L probably benign Het
Cyp20a1 A G 1: 60,418,579 (GRCm39) T340A possibly damaging Het
Dera A T 6: 137,807,202 (GRCm39) I217F probably damaging Het
Dnah11 A G 12: 118,154,539 (GRCm39) L247P probably damaging Het
Eftud2 G A 11: 102,759,447 (GRCm39) T152M probably damaging Het
Entrep1 T C 19: 23,965,858 (GRCm39) K214E probably damaging Het
Epb41l2 C T 10: 25,319,674 (GRCm39) T169M probably benign Het
Fam186a T C 15: 99,845,023 (GRCm39) D407G unknown Het
Gli3 T A 13: 15,889,619 (GRCm39) C578S probably damaging Het
Gm6408 A G 5: 146,419,237 (GRCm39) N84S probably benign Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Herc2 C A 7: 55,838,361 (GRCm39) T3296K probably damaging Het
Hnf4g A T 3: 3,708,133 (GRCm39) probably benign Het
Hyal4 C A 6: 24,755,826 (GRCm39) Q15K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcna3 A G 3: 106,943,908 (GRCm39) E57G probably damaging Het
Kcnc3 C A 7: 44,241,020 (GRCm39) D237E probably benign Het
Map3k8 A G 18: 4,343,137 (GRCm39) V130A probably benign Het
Mpp7 A G 18: 7,440,430 (GRCm39) probably null Het
Mtres1 A G 10: 43,408,933 (GRCm39) L70S probably benign Het
Myh13 T A 11: 67,233,311 (GRCm39) L610Q probably damaging Het
Or13p5 C A 4: 118,592,235 (GRCm39) P170T probably damaging Het
Or5ap2 T A 2: 85,680,246 (GRCm39) M150K probably benign Het
Or8b52 T C 9: 38,577,064 (GRCm39) I25M probably benign Het
Pcdhb5 A T 18: 37,454,129 (GRCm39) T170S probably benign Het
Polr3b T A 10: 84,516,251 (GRCm39) H626Q probably benign Het
Prkg1 A T 19: 31,742,146 (GRCm39) L26Q probably damaging Het
Prob1 T C 18: 35,787,039 (GRCm39) N405S possibly damaging Het
Proz T G 8: 13,123,630 (GRCm39) S300R probably damaging Het
Psg19 A G 7: 18,527,990 (GRCm39) I251T probably benign Het
Rcbtb1 T C 14: 59,467,401 (GRCm39) I413T possibly damaging Het
Rnf144b T A 13: 47,382,452 (GRCm39) Y103N probably damaging Het
Rspry1 G C 8: 95,358,747 (GRCm39) G194R probably benign Het
Scn2b A G 9: 45,036,917 (GRCm39) I142V probably damaging Het
Spata20 A T 11: 94,372,607 (GRCm39) L588H probably damaging Het
Stk32b T A 5: 37,614,503 (GRCm39) H335L probably benign Het
Taar4 A C 10: 23,836,801 (GRCm39) D137A possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tek A T 4: 94,738,074 (GRCm39) H708L probably benign Het
Tmem89 C T 9: 108,744,095 (GRCm39) L132F unknown Het
Ugt2b38 T C 5: 87,559,681 (GRCm39) I404V probably benign Het
Vmn1r16 C T 6: 57,299,814 (GRCm39) M269I probably benign Het
Vmn1r201 A G 13: 22,659,422 (GRCm39) K212R probably damaging Het
Vmn2r11 A C 5: 109,201,626 (GRCm39) F293V probably damaging Het
Zdhhc17 A T 10: 110,798,240 (GRCm39) probably benign Het
Zfp423 C A 8: 88,509,338 (GRCm39) M335I probably benign Het
Zfp74 T C 7: 29,634,079 (GRCm39) Y543C probably damaging Het
Zfp975 A T 7: 42,312,264 (GRCm39) S116R probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GAAGTCTTTACACAGAAATCACTACA -3'
(R):5'- TGCATAACCATGGGATCGCC -3'

Sequencing Primer
(F):5'- GCCCACATGTAGTTAAACATTCG -3'
(R):5'- CACTTAAGTGCGATGACGGTCTC -3'
Posted On 2021-03-08