Incidental Mutation 'R0242:Cnbp'
ID59552
Institutional Source Beutler Lab
Gene Symbol Cnbp
Ensembl Gene ENSMUSG00000030057
Gene Namecellular nucleic acid binding protein
SynonymsZnf9
MMRRC Submission 038480-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0242 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location87842615-87851106 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87845764 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 6 (C6S)
Ref Sequence ENSEMBL: ENSMUSP00000145274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032138] [ENSMUST00000113617] [ENSMUST00000113619] [ENSMUST00000204653] [ENSMUST00000204890]
Predicted Effect probably damaging
Transcript: ENSMUST00000032138
AA Change: C6S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
AA Change: C6S

DomainStartEndE-ValueType
ZnF_C2HC 5 21 4.94e-5 SMART
low complexity region 22 36 N/A INTRINSIC
ZnF_C2HC 53 69 4.54e-4 SMART
ZnF_C2HC 74 90 1.5e-4 SMART
ZnF_C2HC 98 114 1.98e-4 SMART
ZnF_C2HC 119 135 1.06e-4 SMART
ZnF_C2HC 137 153 5.21e-4 SMART
ZnF_C2HC 158 174 1.4e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113617
AA Change: C6S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
AA Change: C6S

DomainStartEndE-ValueType
ZnF_C2HC 5 21 4.94e-5 SMART
low complexity region 22 36 N/A INTRINSIC
ZnF_C2HC 53 69 4.54e-4 SMART
ZnF_C2HC 73 89 1.5e-4 SMART
ZnF_C2HC 97 113 1.98e-4 SMART
ZnF_C2HC 118 134 1.06e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113619
AA Change: C6S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
AA Change: C6S

DomainStartEndE-ValueType
ZnF_C2HC 5 21 4.94e-5 SMART
low complexity region 22 36 N/A INTRINSIC
ZnF_C2HC 53 69 4.54e-4 SMART
ZnF_C2HC 73 89 1.5e-4 SMART
ZnF_C2HC 97 113 1.98e-4 SMART
ZnF_C2HC 118 134 1.06e-4 SMART
ZnF_C2HC 136 152 5.21e-4 SMART
ZnF_C2HC 157 173 1.4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204596
Predicted Effect probably damaging
Transcript: ENSMUST00000204653
AA Change: C6S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
AA Change: C6S

DomainStartEndE-ValueType
ZnF_C2HC 5 21 4.94e-5 SMART
low complexity region 22 36 N/A INTRINSIC
ZnF_C2HC 53 69 4.54e-4 SMART
ZnF_C2HC 73 89 1.5e-4 SMART
ZnF_C2HC 97 113 1.98e-4 SMART
ZnF_C2HC 118 134 1.06e-4 SMART
ZnF_C2HC 136 152 5.21e-4 SMART
ZnF_C2HC 157 173 1.4e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204890
AA Change: C6S

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
AA Change: C6S

DomainStartEndE-ValueType
ZnF_C2HC 5 21 4.94e-5 SMART
low complexity region 22 36 N/A INTRINSIC
ZnF_C2HC 47 63 4.54e-4 SMART
ZnF_C2HC 67 83 1.5e-4 SMART
ZnF_C2HC 91 107 1.98e-4 SMART
ZnF_C2HC 112 128 1.06e-4 SMART
ZnF_C2HC 130 146 5.21e-4 SMART
ZnF_C2HC 151 167 1.4e-4 SMART
Meta Mutation Damage Score 0.8480 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency 97% (110/113)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a retroviral insertion die around E10.5 showing abnormal anterior visceral endoderm formation, reduced embryonic neuroepithelial cell proliferation, lack of anterior definitive endoderm and anterior neuroectoderm, absent diencephalon and telencephalon, and forebrain truncation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,551,676 D230G probably benign Het
4930435E12Rik C T 16: 38,824,567 probably benign Het
Abhd13 A G 8: 9,987,561 I53V probably benign Het
Adgrl2 A C 3: 148,839,185 probably null Het
Aldh16a1 G A 7: 45,144,664 A596V probably damaging Het
Aldh3b2 T A 19: 3,979,414 Y262* probably null Het
Ambn A G 5: 88,467,972 Q420R possibly damaging Het
Ankib1 A C 5: 3,700,344 probably benign Het
Arhgap9 C A 10: 127,329,538 H430Q probably benign Het
Arhgef25 C T 10: 127,184,064 G435E probably damaging Het
Armc12 A T 17: 28,532,392 D120V possibly damaging Het
Armc4 A T 18: 7,211,516 V786D probably damaging Het
Asxl3 G A 18: 22,516,681 E576K possibly damaging Het
Bcdin3d T C 15: 99,470,895 E141G probably benign Het
Bmpr1b G A 3: 141,840,676 T483M probably damaging Het
Caprin2 C T 6: 148,842,954 S991N probably damaging Het
Cd96 T C 16: 46,071,766 I286M possibly damaging Het
Cdcp1 G T 9: 123,180,172 F480L probably benign Het
Celf5 T C 10: 81,464,409 T258A probably benign Het
Cgnl1 A G 9: 71,721,657 V577A probably damaging Het
Clca3b A G 3: 144,841,465 S304P probably benign Het
Cmya5 A T 13: 93,095,600 H993Q probably benign Het
Col14a1 C T 15: 55,497,511 R1605W probably damaging Het
Cops7a T C 6: 124,964,854 N11S probably benign Het
Coro7 T C 16: 4,630,178 probably benign Het
Cpvl T C 6: 53,932,500 H217R possibly damaging Het
Cuedc1 T C 11: 88,184,621 probably benign Het
Cyp2c66 A G 19: 39,141,925 Y68C probably damaging Het
Dicer1 G A 12: 104,702,451 T1324M probably benign Het
Dlgap2 A G 8: 14,727,562 D268G probably benign Het
Dnm1 T A 2: 32,316,989 M535L possibly damaging Het
Dock7 A T 4: 98,962,280 F1575Y probably benign Het
Dpp10 T A 1: 123,398,546 H403L possibly damaging Het
Dync1h1 A G 12: 110,649,851 D3112G possibly damaging Het
Eno3 A G 11: 70,657,935 E21G probably null Het
Fam120b T A 17: 15,422,924 V655D probably damaging Het
Fam129a A G 1: 151,718,216 D884G probably benign Het
Fkbp5 A T 17: 28,428,452 D136E probably benign Het
Gdap1l1 T A 2: 163,447,653 Y179* probably null Het
Gfer A G 17: 24,694,303 W192R probably damaging Het
Gm4782 A G 6: 50,609,858 T408A probably benign Het
Golgb1 C T 16: 36,875,630 Q164* probably null Het
Gpnmb A G 6: 49,047,342 N197S probably damaging Het
Gtf2f1 G A 17: 57,003,802 T414M probably benign Het
Hc A G 2: 35,036,154 probably benign Het
Hcfc1 A T X: 73,948,429 probably benign Het
Helz2 C T 2: 181,230,430 R2539Q probably damaging Het
Hsd17b12 T A 2: 94,157,815 I19F probably benign Het
Incenp T C 19: 9,893,750 T172A unknown Het
Jmy A G 13: 93,441,618 Y681H probably benign Het
Kbtbd11 A G 8: 15,027,508 T36A probably benign Het
Kcnh4 T C 11: 100,755,699 D267G probably damaging Het
Krt34 C T 11: 100,041,331 E56K probably damaging Het
Krt40 T A 11: 99,538,742 E335D probably damaging Het
Krt86 T A 15: 101,476,573 Y282* probably null Het
Lgi3 C T 14: 70,534,815 R267* probably null Het
Lnpk A G 2: 74,537,289 probably benign Het
Lrp1b T A 2: 40,998,183 H2355L probably benign Het
Lrrc8e G A 8: 4,235,401 R542H probably benign Het
Mia2 T C 12: 59,108,856 Y452H probably damaging Het
Mmachc C T 4: 116,704,541 R132Q probably damaging Het
Mtbp T A 15: 55,577,486 N356K possibly damaging Het
Mum1 T C 10: 80,234,258 S354P probably benign Het
Myo5b A G 18: 74,661,716 H552R possibly damaging Het
Noxred1 A G 12: 87,226,979 V96A probably benign Het
Nr1d2 T A 14: 18,211,933 D390V possibly damaging Het
Oas1e A T 5: 120,791,774 probably benign Het
Olfr398 T C 11: 73,983,712 S299G probably benign Het
Olfr786 T A 10: 129,437,348 Y179N probably damaging Het
Otog G T 7: 46,267,381 C914F probably damaging Het
Pank2 G T 2: 131,280,197 C214F probably damaging Het
Pcdhb1 T A 18: 37,266,735 S580T probably benign Het
Pdia3 T C 2: 121,414,111 S2P probably damaging Het
Peli1 G T 11: 21,142,602 R83L probably damaging Het
Pla2g3 T A 11: 3,491,935 C366* probably null Het
Pon3 T A 6: 5,240,860 D107V probably benign Het
Ppip5k2 A G 1: 97,741,091 C532R probably damaging Het
Prph A T 15: 99,055,727 D174V probably damaging Het
Psd3 A G 8: 67,758,086 M270T probably damaging Het
Pum3 A G 19: 27,422,755 probably benign Het
Pus1 A T 5: 110,779,798 H30Q probably benign Het
Rab7 A T 6: 88,005,132 V87E probably damaging Het
Rbm5 A T 9: 107,751,708 probably benign Het
Reln A G 5: 21,942,597 probably null Het
S1pr3 A G 13: 51,418,902 T40A probably benign Het
Sdk1 T A 5: 142,143,922 probably benign Het
Senp7 T A 16: 56,179,521 I853N probably damaging Het
Serpinb6c T A 13: 33,899,247 probably benign Het
Shroom1 T G 11: 53,465,485 probably null Het
Slc24a3 T C 2: 145,606,664 I376T probably benign Het
Slc46a1 T C 11: 78,468,667 I375T possibly damaging Het
Slc4a9 T C 18: 36,533,680 F527S probably damaging Het
Slc4a9 T A 18: 36,541,233 I924N probably damaging Het
Slx4 T A 16: 3,986,952 E666V probably damaging Het
Snrnp27 G A 6: 86,675,593 probably benign Het
Sorcs1 C T 19: 50,228,221 G640E probably damaging Het
Sptan1 A T 2: 30,018,401 M1725L probably benign Het
Sync G A 4: 129,293,721 R182K probably damaging Het
Syne2 G A 12: 76,098,034 G1586S probably damaging Het
Sytl1 G T 4: 133,253,457 T522K probably damaging Het
Tex2 T A 11: 106,519,955 K414* probably null Het
Thegl G T 5: 77,016,305 E52* probably null Het
Thsd7a G A 6: 12,503,916 T413I probably benign Het
Tm9sf1 C T 14: 55,637,935 A451T possibly damaging Het
Ttn A T 2: 76,826,152 probably benign Het
Uba2 T C 7: 34,154,629 I140V possibly damaging Het
Ushbp1 C A 8: 71,390,118 G361* probably null Het
Wbp2nl C T 15: 82,313,787 A175V probably benign Het
Zc3h12d A G 10: 7,862,566 E212G probably damaging Het
Zc3h7b T C 15: 81,768,830 probably benign Het
Other mutations in Cnbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Cnbp APN 6 87845700 missense probably benign
IGL01797:Cnbp APN 6 87845560 splice site probably benign
IGL02430:Cnbp APN 6 87845178 nonsense probably null
R0242:Cnbp UTSW 6 87845764 missense probably damaging 0.98
R0765:Cnbp UTSW 6 87845173 missense probably damaging 1.00
R2151:Cnbp UTSW 6 87845299 missense probably damaging 0.98
R4709:Cnbp UTSW 6 87844138 missense probably damaging 0.98
R4921:Cnbp UTSW 6 87845146 missense possibly damaging 0.94
R7658:Cnbp UTSW 6 87845276 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- CCTTGGCAAGATGACCAGACTCAC -3'
(R):5'- AGGCAGTTTGCATAGTGTCTAAGACAG -3'

Sequencing Primer
(F):5'- TTGGGATAATCAGGCCAGTC -3'
(R):5'- cacacacacacacacacac -3'
Posted On2013-07-11