Mutagenetix > Incidental Mutation

Incidental Mutation 'R9551:Cnbp'

720482

Institutional Source

Beutler Lab

Gene Symbol

Cnbp

Ensembl Gene

ENSMUSG00000030057

Gene Name

cellular nucleic acid binding protein

Synonyms

Znf9

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9551 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87819597-87828088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87822108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 139 (Y139H)

Ref Sequence

ENSEMBL: ENSMUSP00000032138 (fasta)

Gene Model

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

AlphaFold

P53996

Predicted Effect

probably damaging
Transcript: ENSMUST00000032138
AA Change: Y139H

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

SMART Domains

Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
AA Change: Y139H

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: Y138H

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

SMART Domains

Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
AA Change: Y138H

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: Y131H

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

SMART Domains

Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
AA Change: Y131H

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: ENSMUST00000204653
AA Change: Y138H

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

SMART Domains

Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
AA Change: Y138H

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: Y132H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
AA Change: Y132H

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Dab2ip	T	A	2: 35,605,330 (GRCm39)	C504S	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Elp3	T	C	14: 65,797,634 (GRCm39)	I365V	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or2y14	C	T	11: 49,404,942 (GRCm39)	T159I	probably damaging	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Setx	T	C	2: 29,020,244 (GRCm39)	M77T	possibly damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
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
R9552:Cnbp	UTSW	6	87,822,108 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGCAGGGTTTCTTTACTAG -3'
(R):5'- CATTGCCAAGGACTGCAAGG -3'

Sequencing Primer
(F):5'- GTGGTAAACTGCCTCAAATTGAG -3'
(R):5'- CAAGGACTGCAAGGAGCCC -3'

Posted On

2022-08-09