Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Cnbp'

72604

Institutional Source

Beutler Lab

Gene Symbol

Cnbp

Ensembl Gene

ENSMUSG00000030057

Gene Name

cellular nucleic acid binding protein

Synonyms

Znf9

MMRRC Submission

038945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87819597-87828088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87822155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 122 (C122F)

Ref Sequence

ENSEMBL: ENSMUSP00000145274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032138] [ENSMUST00000113617] [ENSMUST00000113619] [ENSMUST00000204653] [ENSMUST00000204890]

AlphaFold

P53996

Predicted Effect

probably damaging
Transcript: ENSMUST00000032138
AA Change: C123F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
AA Change: C123F

Domain	Start	End	E-Value	Type
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: C122F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
AA Change: C122F

Domain	Start	End	E-Value	Type
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: C115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
AA Change: C115F

Domain	Start	End	E-Value	Type
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: C122F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
AA Change: C122F

Domain	Start	End	E-Value	Type
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: C116F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
AA Change: C116F

Domain	Start	End	E-Value	Type
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

0.9751

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Mybph	T	C	1: 134,125,234 (GRCm39)	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,350,505 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or4c52	G	A	2: 89,846,014 (GRCm39)	V247I	probably benign	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,818,734 (GRCm39)	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,099,069 (GRCm39)	T201K	probably damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	probably damaging	Het

Other mutations in Cnbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Cnbp	APN	6	87,822,682 (GRCm39)	missense	probably benign
IGL01797:Cnbp	APN	6	87,822,542 (GRCm39)	splice site	probably benign
IGL02430:Cnbp	APN	6	87,822,160 (GRCm39)	nonsense	probably null
R0242:Cnbp	UTSW	6	87,822,746 (GRCm39)	missense	probably damaging	0.98
R0242:Cnbp	UTSW	6	87,822,746 (GRCm39)	missense	probably damaging	0.98
R2151:Cnbp	UTSW	6	87,822,281 (GRCm39)	missense	probably damaging	0.98
R4709:Cnbp	UTSW	6	87,821,120 (GRCm39)	missense	probably damaging	0.98
R4921:Cnbp	UTSW	6	87,822,128 (GRCm39)	missense	possibly damaging	0.94
R7658:Cnbp	UTSW	6	87,822,258 (GRCm39)	missense	possibly damaging	0.50
R8262:Cnbp	UTSW	6	87,822,194 (GRCm39)	missense	probably damaging	0.99
R8885:Cnbp	UTSW	6	87,822,646 (GRCm39)	missense	probably benign	0.03
R8903:Cnbp	UTSW	6	87,821,074 (GRCm39)	missense	probably damaging	0.98
R8964:Cnbp	UTSW	6	87,821,086 (GRCm39)	missense	probably benign	0.21
R9551:Cnbp	UTSW	6	87,822,108 (GRCm39)	missense	probably damaging	1.00
R9552:Cnbp	UTSW	6	87,822,108 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCATCTGTTTGCCACTAAGCC -3'
(R):5'- TCTGGTCATCTTGCCAAGGATTGTG -3'

Sequencing Primer
(F):5'- GTTTGCCACTAAGCCTGAATC -3'
(R):5'- CTTACACACAGCTTTGGAAGG -3'

Posted On

2013-09-30