Incidental Mutation 'R4778:Czib'
ID 368076
Institutional Source Beutler Lab
Gene Symbol Czib
Ensembl Gene ENSMUSG00000028608
Gene Name CXXC motif containing zinc binding protein
Synonyms 0610037L13Rik
MMRRC Submission 042414-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R4778 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 107746982-107755000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107749195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 64 (V64A)
Ref Sequence ENSEMBL: ENSMUSP00000114234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030348] [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000120473] [ENSMUST00000135454] [ENSMUST00000128474] [ENSMUST00000125107] [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: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608
AA Change: V64A

DomainStartEndE-ValueType
Pfam:DUF866 1 114 1.9e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106727
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608
AA Change: V64A

DomainStartEndE-ValueType
Pfam:DUF866 1 154 1.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119394
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608
AA Change: V64A

DomainStartEndE-ValueType
Pfam:DUF866 1 146 8.1e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153593
Predicted Effect probably damaging
Transcript: ENSMUST00000120473
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608
AA Change: V64A

DomainStartEndE-ValueType
Pfam:DUF866 1 138 2.7e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135454
AA Change: V64A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608
AA Change: V64A

DomainStartEndE-ValueType
Pfam:DUF866 1 160 1.7e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127715
Predicted Effect probably damaging
Transcript: ENSMUST00000128474
AA Change: V65A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608
AA Change: V65A

DomainStartEndE-ValueType
Pfam:DUF866 2 66 4.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125107
AA Change: V100A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608
AA Change: V100A

DomainStartEndE-ValueType
Pfam:DUF866 40 194 2.2e-61 PFAM
Predicted Effect silent
Transcript: ENSMUST00000132417
SMART Domains Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608

DomainStartEndE-ValueType
Pfam:DUF866 37 98 1.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156888
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 0.8479 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,615,342 (GRCm39) N1349S probably damaging Het
Ahnak T C 19: 8,989,339 (GRCm39) V3541A possibly damaging Het
Arhgap33 T A 7: 30,231,518 (GRCm39) T156S probably benign Het
Bltp1 T A 3: 36,991,214 (GRCm39) M897K possibly damaging Het
Card11 G T 5: 140,869,537 (GRCm39) probably null Het
Cdh3 T A 8: 107,270,458 (GRCm39) I445N probably damaging Het
Csrp3 T G 7: 48,482,311 (GRCm39) K169N probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Dpysl3 C T 18: 43,487,867 (GRCm39) V159I probably benign Het
Erc1 A T 6: 119,774,298 (GRCm39) probably null Het
Fat1 T C 8: 45,491,363 (GRCm39) V3808A probably benign Het
Fbxw19 T C 9: 109,323,714 (GRCm39) D87G probably damaging Het
Gm1123 T C 9: 98,900,560 (GRCm39) I99V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Hand1 T C 11: 57,722,449 (GRCm39) D55G possibly damaging Het
Lrguk T A 6: 34,033,015 (GRCm39) I227K probably damaging Het
Mdn1 C T 4: 32,683,583 (GRCm39) R726* probably null Het
Minar1 T A 9: 89,485,155 (GRCm39) I81F probably damaging Het
Myo16 T A 8: 10,619,694 (GRCm39) V1415E probably damaging Het
Myof T C 19: 37,938,011 (GRCm39) D901G probably damaging Het
Naip1 A G 13: 100,563,156 (GRCm39) Y670H probably damaging Het
Nmd3 T A 3: 69,638,924 (GRCm39) Y171* probably null Het
Notch4 C T 17: 34,801,485 (GRCm39) A1111V possibly damaging Het
Nphp4 T A 4: 152,640,748 (GRCm39) D1038E probably benign Het
Or2ag1b A C 7: 106,288,874 (GRCm39) S21R probably damaging Het
Or5p60 A T 7: 107,723,687 (GRCm39) I261N possibly damaging Het
Osbpl10 C T 9: 114,938,598 (GRCm39) S86L probably damaging Het
Pcsk6 G A 7: 65,608,893 (GRCm39) G252R probably damaging Het
Pole T G 5: 110,478,698 (GRCm39) H15Q probably benign Het
Pstpip1 A G 9: 56,035,904 (GRCm39) D383G possibly damaging Het
Ptprq T C 10: 107,426,883 (GRCm39) T1551A probably benign Het
Rasgrf2 A G 13: 92,131,780 (GRCm39) F626L probably damaging Het
Retreg1 C A 15: 25,971,871 (GRCm39) N394K possibly damaging Het
Rpl7-ps8 T A 15: 59,083,252 (GRCm39) noncoding transcript Het
Rpp14 T A 14: 8,090,203 (GRCm38) D42E probably benign Het
Rrp8 T A 7: 105,386,481 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Snx1 T C 9: 66,008,698 (GRCm39) probably benign Het
Stau1 A T 2: 166,805,442 (GRCm39) N51K probably benign Het
Tdrd5 T A 1: 156,083,157 (GRCm39) D960V probably damaging Het
Tex10 T C 4: 48,436,468 (GRCm39) D750G probably damaging Het
Tmem43 T C 6: 91,459,237 (GRCm39) V236A probably damaging Het
Tmem89 T C 9: 108,744,443 (GRCm39) V112A probably damaging Het
Traf7 C G 17: 24,729,412 (GRCm39) probably benign Het
Vmn1r41 A C 6: 89,724,257 (GRCm39) K266T probably damaging Het
Vmn2r65 T C 7: 84,592,801 (GRCm39) K469E possibly damaging Het
Zfp831 A G 2: 174,488,600 (GRCm39) T1092A possibly damaging Het
Zfp981 T A 4: 146,622,112 (GRCm39) S346T 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
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'- TTCTCAACCAGGGGAAGACTC -3'
(R):5'- GACTTGAATCTCTACCCAGACTCC -3'

Sequencing Primer
(F):5'- ACTGAGCATGCTCTACTACTGAG -3'
(R):5'- TCTACCCAGACTCCACTCAGGTG -3'
Posted On 2015-12-29