Incidental Mutation 'R0088:Bnc1'
| ID |
20009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bnc1
|
| Ensembl Gene |
ENSMUSG00000025105 |
| Gene Name |
basonuclin zinc finger protein 1 |
| Synonyms |
|
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
81616401-81642047 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81628246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 39
(N39T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026096]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026096
AA Change: N39T
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: N39T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
327 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
354 |
377 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
382 |
411 |
6.75e0 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
633 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
716 |
739 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
744 |
771 |
5.62e0 |
SMART |
|
low complexity region
|
855 |
876 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
924 |
947 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
952 |
979 |
8.09e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.0753 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit thinning and delayed wound healing of the corneal epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
Het |
|
| Other mutations in Bnc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Bnc1
|
APN |
7 |
81,623,455 (GRCm39) |
nonsense |
probably null |
|
|
IGL01293:Bnc1
|
APN |
7 |
81,624,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02064:Bnc1
|
APN |
7 |
81,623,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02529:Bnc1
|
APN |
7 |
81,627,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03087:Bnc1
|
APN |
7 |
81,624,390 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0312:Bnc1
|
UTSW |
7 |
81,627,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0631:Bnc1
|
UTSW |
7 |
81,624,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0924:Bnc1
|
UTSW |
7 |
81,628,156 (GRCm39) |
splice site |
probably benign |
|
|
R0928:Bnc1
|
UTSW |
7 |
81,623,250 (GRCm39) |
missense |
probably benign |
|
|
R1967:Bnc1
|
UTSW |
7 |
81,623,384 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2243:Bnc1
|
UTSW |
7 |
81,623,821 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2404:Bnc1
|
UTSW |
7 |
81,618,463 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4079:Bnc1
|
UTSW |
7 |
81,623,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4416:Bnc1
|
UTSW |
7 |
81,618,708 (GRCm39) |
missense |
probably benign |
|
|
R5038:Bnc1
|
UTSW |
7 |
81,618,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Bnc1
|
UTSW |
7 |
81,624,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7083:Bnc1
|
UTSW |
7 |
81,623,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Bnc1
|
UTSW |
7 |
81,623,109 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7151:Bnc1
|
UTSW |
7 |
81,623,055 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7386:Bnc1
|
UTSW |
7 |
81,624,240 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7950:Bnc1
|
UTSW |
7 |
81,623,250 (GRCm39) |
missense |
probably benign |
|
|
R8355:Bnc1
|
UTSW |
7 |
81,618,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8773:Bnc1
|
UTSW |
7 |
81,623,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Bnc1
|
UTSW |
7 |
81,624,646 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Bnc1
|
UTSW |
7 |
81,624,290 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Bnc1
|
UTSW |
7 |
81,618,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1186:Bnc1
|
UTSW |
7 |
81,623,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTCATACAACAGCACCTGAAGG -3'
(R):5'- CGTATCGTAAGCATCTGAGGGGAAC -3'
Sequencing Primer
(F):5'- ATAGCCTGTTACCTGGGACATAC -3'
(R):5'- AGATCTGTACATGGACCACTGTTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation