Incidental Mutation 'IGL01797:Cnbp'
| ID |
155407 |
| 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)
|
| Stock # |
IGL01797
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87819597-87828088 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 87822542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032138]
[ENSMUST00000113617]
[ENSMUST00000113619]
[ENSMUST00000204653]
[ENSMUST00000204890]
|
| AlphaFold |
P53996 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032138
|
| SMART Domains |
Protein: ENSMUSP00000032138
Gene: ENSMUSG00000030057
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109247
Gene: ENSMUSG00000030057
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109249
Gene: ENSMUSG00000030057
| 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: ENSMUST00000204653
|
| SMART Domains |
Protein: ENSMUSP00000145274
Gene: ENSMUSG00000030057
| 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 benign
Transcript: ENSMUST00000204890
|
| SMART Domains |
Protein: ENSMUSP00000145227
Gene: ENSMUSG00000030057
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,113,760 (GRCm39) |
V877A |
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,531,511 (GRCm39) |
I178V |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 179,997,284 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
A |
G |
10: 127,113,182 (GRCm39) |
D244G |
possibly damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,618,630 (GRCm39) |
|
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
| Faiml |
T |
C |
9: 99,116,442 (GRCm39) |
K83E |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,854,925 (GRCm39) |
C159* |
probably null |
Het |
| Fgd3 |
A |
T |
13: 49,443,065 (GRCm39) |
V169E |
probably damaging |
Het |
| Ice1 |
G |
T |
13: 70,772,065 (GRCm39) |
T51K |
probably damaging |
Het |
| Iqca1 |
A |
C |
1: 90,072,541 (GRCm39) |
|
probably null |
Het |
| Jup |
C |
A |
11: 100,272,498 (GRCm39) |
|
probably benign |
Het |
| Krt84 |
A |
G |
15: 101,436,915 (GRCm39) |
V373A |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,802 (GRCm39) |
M9K |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,706,086 (GRCm39) |
V480A |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,404,225 (GRCm39) |
H344R |
probably damaging |
Het |
| Or13a21 |
A |
G |
7: 139,998,931 (GRCm39) |
Y252H |
probably damaging |
Het |
| Or1e1f |
A |
T |
11: 73,855,644 (GRCm39) |
D70V |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,487,883 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
G |
A |
15: 5,198,187 (GRCm39) |
D159N |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,831,721 (GRCm39) |
I736N |
probably damaging |
Het |
| Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,398,459 (GRCm39) |
I286V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 86,003,371 (GRCm39) |
I1069K |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,540,257 (GRCm39) |
E34243A |
possibly damaging |
Het |
| Uqcr10 |
A |
C |
11: 4,654,179 (GRCm39) |
I43S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 187,995,706 (GRCm39) |
M159K |
probably damaging |
Het |
| Vmn2r121 |
G |
A |
X: 123,041,048 (GRCm39) |
|
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,195 (GRCm39) |
D147V |
probably benign |
Het |
| Xntrpc |
T |
C |
7: 101,739,753 (GRCm39) |
I559T |
possibly damaging |
Het |
| Zfp268 |
T |
A |
4: 145,347,241 (GRCm39) |
N48K |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation