Incidental Mutation 'R2151:Cnbp'
ID234261
Institutional Source Beutler Lab
Gene Symbol Cnbp
Ensembl Gene ENSMUSG00000030057
Gene Namecellular nucleic acid binding protein
SynonymsZnf9
MMRRC Submission 040154-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2151 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location87842615-87851106 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87845299 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 81 (G81D)
Ref Sequence ENSEMBL: ENSMUSP00000032138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032138] [ENSMUST00000113617] [ENSMUST00000113619] [ENSMUST00000204653] [ENSMUST00000204890]
Predicted Effect probably damaging
Transcript: ENSMUST00000032138
AA Change: G81D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
AA Change: G81D

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 benign
Transcript: ENSMUST00000113617
AA Change: G80D

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
AA Change: G80D

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 benign
Transcript: ENSMUST00000113619
AA Change: G73D

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
AA Change: G73D

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 benign
Transcript: ENSMUST00000204653
AA Change: G80D

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
AA Change: G80D

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 probably damaging
Transcript: ENSMUST00000204890
AA Change: G74D

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
AA Change: G74D

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 0.112 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C T 5: 5,478,875 V47I possibly damaging Het
4930447C04Rik T C 12: 72,907,951 probably null Het
4930579F01Rik A G 3: 138,176,456 probably null Het
Abhd17c G T 7: 84,151,455 H130Q probably damaging Het
Actr10 T A 12: 70,940,801 C27* probably null Het
AF529169 T G 9: 89,602,168 K392T possibly damaging Het
Als2 G A 1: 59,207,789 H564Y probably damaging Het
Art5 A G 7: 102,098,200 L124P possibly damaging Het
Asap2 A T 12: 21,112,083 T14S probably damaging Het
Atp2c2 A G 8: 119,756,102 N901S probably benign Het
Bicd2 G T 13: 49,379,576 C546F probably damaging Het
Dnah5 T C 15: 28,444,091 Y4012H probably damaging Het
Dok5 G A 2: 170,800,896 G38D probably damaging Het
Drc3 A T 11: 60,375,157 E224V probably benign Het
Ehd2 T C 7: 15,952,203 K315E probably damaging Het
Eif6 A T 2: 155,822,890 N225K probably benign Het
Epg5 T C 18: 78,027,302 V2264A probably benign Het
Faf2 T C 13: 54,648,407 F126L probably damaging Het
Fam71b A T 11: 46,405,331 K177* probably null Het
Fiz1 T C 7: 5,012,881 S37G possibly damaging Het
Frs3 T C 17: 47,703,062 S227P probably benign Het
Gm21188 C T 13: 120,034,799 C178Y unknown Het
Gm4787 T A 12: 81,377,219 I722F probably benign Het
Gm6370 T A 5: 146,493,641 L212Q probably damaging Het
Gmnc G A 16: 26,960,706 H142Y possibly damaging Het
Gna15 T C 10: 81,502,904 Y367C probably damaging Het
Gpr158 G A 2: 21,827,514 V1142M possibly damaging Het
Gpx6 A G 13: 21,318,971 K185R probably damaging Het
Hc A C 2: 34,991,103 probably benign Het
Hdac9 A G 12: 34,390,256 S375P probably damaging Het
Kat6b A T 14: 21,668,667 H1138L probably benign Het
Klre1 G A 6: 129,580,033 E33K possibly damaging Het
Ldhb C A 6: 142,498,670 V86L possibly damaging Het
Magi3 T A 3: 104,046,882 K713I probably damaging Het
Magi3 T C 3: 104,085,238 Y306C probably damaging Het
Mmp17 T C 5: 129,605,661 Y455H probably benign Het
Mmp25 T A 17: 23,631,074 Y504F probably damaging Het
Myo1a T C 10: 127,720,181 I969T probably benign Het
Nedd4l T A 18: 65,210,330 H820Q probably damaging Het
Nf1 T A 11: 79,447,570 M1136K possibly damaging Het
Nmi T C 2: 51,952,543 E179G probably damaging Het
Nov G A 15: 54,752,458 A340T probably benign Het
Nrros A T 16: 32,143,258 M611K probably benign Het
Nsd1 A T 13: 55,291,236 N1692I probably damaging Het
Nuak1 T C 10: 84,409,645 N112S probably benign Het
Odf2l T C 3: 145,149,024 Y488H possibly damaging Het
Olfr1204 C A 2: 88,852,784 P278H probably damaging Het
Olfr935 T A 9: 38,994,716 T240S probably damaging Het
Olfr948 T A 9: 39,319,117 I166F probably damaging Het
Otop2 A G 11: 115,329,411 D359G possibly damaging Het
Pi4ka A T 16: 17,367,507 F243Y probably benign Het
Pnmal2 T C 7: 16,945,912 C274R probably benign Het
Ppp1r42 A G 1: 10,003,347 V6A probably benign Het
Prrg4 A G 2: 104,839,388 L128S probably damaging Het
Prss33 C T 17: 23,834,843 V87M probably damaging Het
Psen2 A G 1: 180,233,664 V278A probably damaging Het
Ptpn13 C A 5: 103,525,785 T538K probably damaging Het
Rad51ap2 A G 12: 11,457,985 H636R probably benign Het
Rbak A C 5: 143,176,502 D35E possibly damaging Het
Rbms1 C A 2: 60,762,048 probably null Het
Rgs7bp T A 13: 104,964,089 N226I probably damaging Het
Rnf182 T A 13: 43,668,423 V150E probably benign Het
Sacs A G 14: 61,209,640 Y3045C probably damaging Het
Scp2 G T 4: 108,063,944 A23E probably benign Het
Sec16a A T 2: 26,413,745 probably benign Het
Slc30a5 A T 13: 100,803,949 H619Q probably damaging Het
Slfn10-ps T A 11: 83,035,685 noncoding transcript Het
Slmap A G 14: 26,418,247 Y771H probably damaging Het
Slx T A X: 26,534,389 probably benign Het
Spns3 C A 11: 72,545,961 probably benign Het
Stxbp1 T A 2: 32,802,856 I383F probably damaging Het
Taf3 C T 2: 9,951,566 E597K possibly damaging Het
Tbcd A G 11: 121,603,631 Q1006R possibly damaging Het
Tenm4 G T 7: 96,902,847 V2498F probably damaging Het
Tex2 T C 11: 106,567,335 probably benign Het
Tkfc A T 19: 10,599,057 L154Q probably damaging Het
Tmem57 A G 4: 134,811,223 V470A probably benign Het
Tmem62 A G 2: 120,986,862 H257R probably damaging Het
Trpm2 T C 10: 77,932,179 I829V probably benign Het
Ttc38 A G 15: 85,851,601 probably null Het
Ttn A T 2: 76,718,413 Y30135* probably null Het
Ttn A G 2: 76,980,133 V17A probably benign Het
Ubqlnl A T 7: 104,148,683 C536S probably benign Het
Vmn1r230 T A 17: 20,846,801 M84K probably damaging Het
Vmn1r235 G A 17: 21,262,366 V318I probably benign Het
Vmn2r76 T C 7: 86,230,484 I203V probably benign Het
Vmn2r97 A T 17: 18,947,322 R613* probably null Het
Zfp180 A G 7: 24,105,260 H368R probably damaging Het
Zfp407 T C 18: 84,209,649 D1945G possibly damaging Het
Zfyve27 G T 19: 42,171,731 R62L 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
R0242:Cnbp UTSW 6 87845764 missense probably damaging 0.98
R0765:Cnbp UTSW 6 87845173 missense probably damaging 1.00
R4709:Cnbp UTSW 6 87844138 missense probably damaging 0.98
R4921:Cnbp UTSW 6 87845146 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CACCTATAGCACTTCACCTTGGTG -3'
(R):5'- TGACATCTGCTACCGCTGTG -3'

Sequencing Primer
(F):5'- ACTTCACCTTGGTGCAGTC -3'
(R):5'- CATCTTGCCAAGGATTGTGATC -3'
Posted On2014-10-01