Mutagenetix > Incidental Mutation

Incidental Mutation 'R8903:Cnbp'

678298

Institutional Source

Beutler Lab

Gene Symbol

Cnbp

Ensembl Gene

ENSMUSG00000030057

Gene Name

cellular nucleic acid binding protein

Synonyms

Znf9

MMRRC Submission

068760-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87819597-87828088 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87821074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 162 (C162S)

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: C162S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
AA Change: C162S

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: C161S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
AA Change: C161S

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: C154S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
AA Change: C154S

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: C161S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
AA Change: C161S

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

possibly damaging
Transcript: ENSMUST00000204890
AA Change: C155S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
AA Change: C155S

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

0.9697

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (74/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,815,526 (GRCm39)	F258S	probably damaging	Het
Abca3	A	G	17: 24,602,959 (GRCm39)	Y518C	probably damaging	Het
Ank2	A	T	3: 126,840,431 (GRCm39)	N274K	probably damaging	Het
Ankrd31	C	T	13: 96,969,329 (GRCm39)	L989F	probably damaging	Het
Ano6	A	G	15: 95,825,463 (GRCm39)	R354G	probably benign	Het
Ano8	T	C	8: 71,934,834 (GRCm39)		probably null	Het
Arfgef1	T	C	1: 10,211,838 (GRCm39)	Y1735C	probably damaging	Het
B3gnt8	G	A	7: 25,328,659 (GRCm39)	G363D	probably benign	Het
Calcrl	T	C	2: 84,203,729 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,726 (GRCm39)	D782V	unknown	Het
Ccdc162	A	G	10: 41,531,440 (GRCm39)		probably null	Het
Cdkal1	A	T	13: 29,809,918 (GRCm39)	*219R	probably null	Het
Clcnkb	A	T	4: 141,135,160 (GRCm39)	V526D	possibly damaging	Het
Coq2	A	G	5: 100,811,656 (GRCm39)		probably benign	Het
D6Wsu163e	T	A	6: 126,931,778 (GRCm39)	L270Q	probably damaging	Het
Dennd10	C	T	19: 60,823,423 (GRCm39)	Q353*	probably null	Het
Dnhd1	C	T	7: 105,362,855 (GRCm39)	Q3806*	probably null	Het
Eepd1	T	C	9: 25,394,518 (GRCm39)	F261L	probably benign	Het
Fes	C	T	7: 80,036,559 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,807,681 (GRCm39)	D1333E	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm5113	T	C	7: 29,878,292 (GRCm39)	F127L	probably benign	Het
Grk3	A	G	5: 113,066,697 (GRCm39)	S596P	possibly damaging	Het
Gsk3a	A	G	7: 24,936,814 (GRCm39)	V91A	possibly damaging	Het
Gss	T	C	2: 155,420,279 (GRCm39)	K141E	probably damaging	Het
Il1rl2	A	T	1: 40,366,530 (GRCm39)		probably null	Het
Kcnmb1	A	G	11: 33,914,825 (GRCm39)	Y42C	probably damaging	Het
Krtap16-1	A	T	11: 99,877,170 (GRCm39)	I78N	probably damaging	Het
Lrp2	C	T	2: 69,379,382 (GRCm39)	S110N	possibly damaging	Het
Lrrfip1	T	A	1: 91,012,781 (GRCm39)		probably benign	Het
Magel2	G	T	7: 62,029,441 (GRCm39)	A782S	unknown	Het
Map1b	C	A	13: 99,569,017 (GRCm39)	E1235*	probably null	Het
Mcpt1	A	C	14: 56,257,520 (GRCm39)	H222P	probably benign	Het
Met	T	A	6: 17,549,137 (GRCm39)	N996K	probably benign	Het
Mia	C	A	7: 26,880,230 (GRCm39)	Q52H	probably damaging	Het
Mia	T	A	7: 26,880,231 (GRCm39)	Q52L	possibly damaging	Het
Myh7	T	A	14: 55,230,228 (GRCm39)	K35*	probably null	Het
Myt1l	T	A	12: 29,861,468 (GRCm39)	D83E	unknown	Het
Nbl1	A	G	4: 138,810,861 (GRCm39)	V111A	probably damaging	Het
Nid1	T	A	13: 13,638,515 (GRCm39)	V145D	probably benign	Het
Nif3l1	C	T	1: 58,486,653 (GRCm39)		probably benign	Het
Npnt	T	C	3: 132,591,764 (GRCm39)	Y500C	probably damaging	Het
Nubpl	T	A	12: 52,144,676 (GRCm39)		probably null	Het
Nxpe4	T	A	9: 48,310,250 (GRCm39)	D504E	probably damaging	Het
Obsl1	A	G	1: 75,463,917 (GRCm39)	V1696A	possibly damaging	Het
Or56a3	A	T	7: 104,735,329 (GRCm39)	R135S	possibly damaging	Het
Or8s2	A	T	15: 98,276,475 (GRCm39)	I172N	probably damaging	Het
P2rx1	A	T	11: 72,900,821 (GRCm39)	H224L	probably benign	Het
Pald1	A	T	10: 61,182,815 (GRCm39)		probably null	Het
Pard6g	C	T	18: 80,160,411 (GRCm39)	R175*	probably null	Het
Pisd	A	G	5: 32,895,755 (GRCm39)	I271T	probably benign	Het
Prrt3	T	C	6: 113,472,796 (GRCm39)	S459G	probably damaging	Het
Psd3	A	T	8: 68,165,945 (GRCm39)	C328S	unknown	Het
Psme1	A	G	14: 55,817,853 (GRCm39)	E120G		Het
Pum3	A	T	19: 27,397,457 (GRCm39)	M306K	possibly damaging	Het
Pxdn	T	C	12: 30,040,992 (GRCm39)	F423L	probably benign	Het
Rac3	A	G	11: 120,614,071 (GRCm39)	D118G	probably damaging	Het
Rnf14	A	G	18: 38,446,267 (GRCm39)	K357E	probably benign	Het
Rpl23a	T	C	11: 78,073,720 (GRCm39)	I40V	probably benign	Het
Slc5a5	A	T	8: 71,345,227 (GRCm39)	S27T	probably damaging	Het
Slc7a14	A	T	3: 31,277,595 (GRCm39)	L670Q	probably damaging	Het
Snorc	C	T	1: 87,402,826 (GRCm39)	T52I	probably damaging	Het
Sst	T	A	16: 23,708,499 (GRCm39)	K111*	probably null	Het
Stxbp4	A	G	11: 90,426,267 (GRCm39)	S514P	unknown	Het
Susd1	T	A	4: 59,390,576 (GRCm39)	T300S	probably benign	Het
Tecpr1	C	T	5: 144,150,845 (GRCm39)		probably benign	Het
Tmem185b	C	T	1: 119,454,198 (GRCm39)		probably benign	Het
Tor2a	T	A	2: 32,651,699 (GRCm39)	F305I	probably damaging	Het
Ttk	T	A	9: 83,750,113 (GRCm39)	D689E	probably damaging	Het
Tut4	A	T	4: 108,336,408 (GRCm39)	D44V	probably damaging	Het
Usp25	A	G	16: 76,878,421 (GRCm39)	D615G	probably damaging	Het
Vmn1r209	A	G	13: 22,990,684 (GRCm39)	V2A	probably benign	Het
Vmn2r80	A	C	10: 79,017,928 (GRCm39)	E551A	probably damaging	Het
Wac	G	T	18: 7,926,104 (GRCm39)	E636*	probably null	Het
Wdr53	T	A	16: 32,071,130 (GRCm39)	D158E	probably damaging	Het
Zbtb7c	T	C	18: 76,270,152 (GRCm39)	V80A	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
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
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'- GCAAGTAAAGCTCACTGGCC -3'
(R):5'- CTGGGCAGTAATGTCTCATAAAAGAG -3'

Sequencing Primer
(F):5'- TAAAGCTCACTGGCCTGGGAAC -3'
(R):5'- GTGTGGTGAAACTGGTCA -3'

Posted On

2021-08-02