Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Cnbp'

53608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cnbp

Ensembl Gene

ENSMUSG00000030057

Gene Name

cellular nucleic acid binding protein

Synonyms

Znf9

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

87819597-87828088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87822682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 27 (R27H)

Ref Sequence

ENSEMBL: ENSMUSP00000145227 (fasta)

Gene Model

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

AlphaFold

P53996

Predicted Effect

probably benign
Transcript: ENSMUST00000032138
AA Change: R27H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
AA Change: R27H

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 benign
Transcript: ENSMUST00000113617
AA Change: R27H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
AA Change: R27H

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 benign
Transcript: ENSMUST00000113619
AA Change: R27H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
AA Change: R27H

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 benign
Transcript: ENSMUST00000204890
AA Change: R27H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
AA Change: R27H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204653
AA Change: R27H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
AA Change: R27H

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

Coding Region Coverage

Validation Efficiency

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
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,279,934 (GRCm39)	R517*	probably null	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,519,368 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
H1f6	C	T	13: 23,880,032 (GRCm39)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Or5h22	T	A	16: 58,894,793 (GRCm39)	T217S	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,404,740 (GRCm39)	D202G	probably damaging	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,916,563 (GRCm39)	Q915*	probably null	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	probably benign	Het

Other mutations in Cnbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0765:Cnbp	UTSW	6	87,822,155 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-06-28