Incidental Mutation 'R6644:Czib'
ID 525990
Institutional Source Beutler Lab
Gene Symbol Czib
Ensembl Gene ENSMUSG00000028608
Gene Name CXXC motif containing zinc binding protein
Synonyms 0610037L13Rik
MMRRC Submission 044765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R6644 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 107746982-107755000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107752119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 130 (I130S)
Ref Sequence ENSEMBL: ENSMUSP00000114234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000120473] [ENSMUST00000125107] [ENSMUST00000134254] [ENSMUST00000135454] [ENSMUST00000132417] [ENSMUST00000128474]
AlphaFold Q8BHG2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000030347
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 damaging
Transcript: ENSMUST00000106727
AA Change: I130S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: I130S

DomainStartEndE-ValueType
Pfam:DUF866 1 154 1.2e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119394
AA Change: I130S

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: I130S

DomainStartEndE-ValueType
Pfam:DUF866 1 146 8.1e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120473
AA Change: I130S

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: I130S

DomainStartEndE-ValueType
Pfam:DUF866 1 138 2.7e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125107
AA Change: I166S

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: I166S

DomainStartEndE-ValueType
Pfam:DUF866 40 194 2.2e-61 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134254
AA Change: I31S

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119309
Gene: ENSMUSG00000028608
AA Change: I31S

DomainStartEndE-ValueType
Pfam:DUF866 1 46 3e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135454
AA Change: I130S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: I130S

DomainStartEndE-ValueType
Pfam:DUF866 1 160 1.7e-74 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: ENSMUST00000128474
SMART Domains Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 2 66 4.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156888
Meta Mutation Damage Score 0.4857 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 C T 10: 79,844,598 (GRCm39) P1461L probably damaging Het
Abhd14a T C 9: 106,321,472 (GRCm39) Y10C probably damaging Het
Adcy2 C T 13: 68,816,671 (GRCm39) V772M possibly damaging Het
Apob A G 12: 8,059,077 (GRCm39) M2487V probably damaging Het
B4galnt1 T C 10: 127,007,662 (GRCm39) probably null Het
Cabp7 C T 11: 4,690,396 (GRCm39) V76I probably benign Het
Cbr3 A G 16: 93,487,399 (GRCm39) Y194C probably damaging Het
Cdk18 G A 1: 132,049,807 (GRCm39) Q58* probably null Het
Cryba4 T C 5: 112,394,628 (GRCm39) D167G probably damaging Het
Dner T C 1: 84,373,428 (GRCm39) N588S probably damaging Het
Dnm1l T C 16: 16,147,737 (GRCm39) I343V probably benign Het
Eif1ad16 A G 12: 87,985,460 (GRCm39) F28L probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxw17 G A 13: 50,577,255 (GRCm39) R49Q probably damaging Het
Garin2 T A 12: 78,762,060 (GRCm39) D241E probably damaging Het
Gm10332 T A 14: 55,057,616 (GRCm39) F59I probably damaging Het
Gnai3 A G 3: 108,030,852 (GRCm39) probably null Het
Helz T A 11: 107,523,087 (GRCm39) M75K possibly damaging Het
Hnrnph3 C T 10: 62,854,672 (GRCm39) probably benign Het
Ifi211 C T 1: 173,733,118 (GRCm39) C181Y probably benign Het
Immp1l A G 2: 105,767,390 (GRCm39) K83R probably damaging Het
Itga6 G A 2: 71,671,468 (GRCm39) G740R probably damaging Het
Klhl1 T C 14: 96,755,354 (GRCm39) T134A probably benign Het
Klhl7 A G 5: 24,354,244 (GRCm39) D353G probably damaging Het
Map3k1 A G 13: 111,888,983 (GRCm39) S1325P probably benign Het
Map3k4 A G 17: 12,451,297 (GRCm39) probably null Het
Meioc G A 11: 102,559,286 (GRCm39) probably null Het
Mfap5 T C 6: 122,497,555 (GRCm39) F26L probably damaging Het
Myo5a A G 9: 75,054,249 (GRCm39) T386A probably damaging Het
Npc1l1 A T 11: 6,164,013 (GRCm39) L1266Q probably damaging Het
Npc1l1 G T 11: 6,164,014 (GRCm39) L1266M probably damaging Het
Or4c116 A G 2: 88,942,325 (GRCm39) M177T probably benign Het
Or51aa2 C A 7: 103,188,265 (GRCm39) V59F possibly damaging Het
Pbld1 T A 10: 62,910,842 (GRCm39) S233T probably damaging Het
Phf12 A G 11: 77,916,918 (GRCm39) *789W probably null Het
Sf3b2 A T 19: 5,329,992 (GRCm39) probably null Het
Slc23a3 A G 1: 75,105,191 (GRCm39) I459T probably damaging Het
Spata31e4 A G 13: 50,856,071 (GRCm39) T570A possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Stard9 A C 2: 120,526,253 (GRCm39) M837L probably benign Het
Stx5a A T 19: 8,732,612 (GRCm39) probably benign Het
Tmc7 A G 7: 118,137,385 (GRCm39) V719A probably benign Het
Trank1 T A 9: 111,193,902 (GRCm39) I642K possibly damaging Het
Trim34a T C 7: 103,910,244 (GRCm39) Y349H probably damaging Het
Uba7 A G 9: 107,858,671 (GRCm39) Y834C possibly damaging Het
Ube2d1 A G 10: 71,092,530 (GRCm39) S105P possibly damaging Het
Vps13a A G 19: 16,722,283 (GRCm39) V343A possibly damaging Het
Zbtb37 G A 1: 160,859,643 (GRCm39) Q221* probably null Het
Zfp119b T C 17: 56,246,148 (GRCm39) N346S probably benign Het
Zfp708 G T 13: 67,218,785 (GRCm39) T358K 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
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
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'- GTGCCGAGTAAGTTGGGAAC -3'
(R):5'- TTCACAGGTCCTCCTCAGAACC -3'

Sequencing Primer
(F):5'- TTTGCTAGGAAGAGCAGC -3'
(R):5'- AGAACCCTGGCCTGCTAGAG -3'
Posted On 2018-06-22