Incidental Mutation 'R5031:Nabp2'
| ID |
391703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nabp2
|
| Ensembl Gene |
ENSMUSG00000025374 |
| Gene Name |
nucleic acid binding protein 2 |
| Synonyms |
Obfc2b, 2610036N15Rik, Nabp2, SSB1 |
| MMRRC Submission |
042622-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5031 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128237264-128247361 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 128245497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026439]
[ENSMUST00000096386]
[ENSMUST00000164199]
[ENSMUST00000164664]
[ENSMUST00000166608]
[ENSMUST00000171370]
[ENSMUST00000172348]
[ENSMUST00000217826]
[ENSMUST00000172238]
[ENSMUST00000171342]
[ENSMUST00000171494]
|
| AlphaFold |
Q8R2Y9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026439
|
| SMART Domains |
Protein: ENSMUSP00000026439
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
23 |
105 |
1.7e-9 |
PFAM |
|
low complexity region
|
131 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096386
|
| SMART Domains |
Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
1.54e-5 |
SMART |
|
Pfam:USP8_interact
|
137 |
315 |
5.1e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164199
|
| SMART Domains |
Protein: ENSMUSP00000128634
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
23 |
105 |
1.7e-9 |
PFAM |
|
low complexity region
|
131 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164664
|
| SMART Domains |
Protein: ENSMUSP00000127605
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
22 |
105 |
5.8e-10 |
PFAM |
|
low complexity region
|
131 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166577
|
| SMART Domains |
Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
18 |
48 |
5.09e-2 |
SMART |
|
ANK
|
52 |
81 |
2.54e-2 |
SMART |
|
ANK
|
88 |
117 |
1.34e-1 |
SMART |
|
Blast:ANK
|
121 |
148 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166608
|
| SMART Domains |
Protein: ENSMUSP00000131171
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
39 |
120 |
4.2e-9 |
PFAM |
|
low complexity region
|
147 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171370
|
| SMART Domains |
Protein: ENSMUSP00000127436
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OWX|B
|
1 |
56 |
3e-35 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172348
|
| SMART Domains |
Protein: ENSMUSP00000127015
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
22 |
105 |
6.1e-10 |
PFAM |
|
low complexity region
|
131 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171342
|
| SMART Domains |
Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
1.54e-5 |
SMART |
|
Pfam:USP8_interact
|
137 |
315 |
2.3e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171494
|
| SMART Domains |
Protein: ENSMUSP00000126842
Gene: ENSMUSG00000025374
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4OWX|B
|
1 |
65 |
5e-41 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 89.9%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete perinatal lethality, fetal growth retardation, abnormal limb development, abnormal cranium morphology, small rib cage, thin and porous bones, cleft palate, oligodactyly, increased apoptosis at E12.5 and increased genomic instability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,247,678 (GRCm39) |
N2475I |
probably damaging |
Het |
| Acnat2 |
T |
C |
4: 49,380,631 (GRCm39) |
K231R |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,589,696 (GRCm39) |
P599L |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,978,121 (GRCm39) |
E580G |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,755 (GRCm39) |
K346E |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,030,468 (GRCm39) |
K309E |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,743,151 (GRCm39) |
R1607G |
probably benign |
Het |
| Cct8 |
C |
T |
16: 87,284,426 (GRCm39) |
V254M |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,950,602 (GRCm39) |
I110F |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,588 (GRCm39) |
C2694S |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,463,661 (GRCm39) |
I105V |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,753,975 (GRCm39) |
D1584G |
probably benign |
Het |
| Epg5 |
G |
A |
18: 78,072,163 (GRCm39) |
V2392I |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,447,824 (GRCm39) |
S294N |
possibly damaging |
Het |
| Hectd2 |
A |
G |
19: 36,577,004 (GRCm39) |
N142D |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,464,008 (GRCm39) |
C5091R |
probably damaging |
Het |
| Ifitm5 |
G |
A |
7: 140,530,017 (GRCm39) |
R36* |
probably null |
Het |
| Ints2 |
G |
A |
11: 86,147,026 (GRCm39) |
P40L |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,264,688 (GRCm39) |
L1176* |
probably null |
Het |
| Klhl29 |
C |
T |
12: 5,141,334 (GRCm39) |
R550Q |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,078,102 (GRCm39) |
M134T |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,584,822 (GRCm39) |
N384Y |
possibly damaging |
Het |
| Magel2 |
T |
C |
7: 62,029,852 (GRCm39) |
S919P |
unknown |
Het |
| Mettl16 |
A |
T |
11: 74,693,825 (GRCm39) |
I279F |
probably benign |
Het |
| Mmut |
T |
C |
17: 41,249,718 (GRCm39) |
F231S |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,985 (GRCm39) |
Y231* |
probably null |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mvp |
A |
C |
7: 126,592,788 (GRCm39) |
Y374* |
probably null |
Het |
| Nos1 |
C |
T |
5: 118,017,378 (GRCm39) |
P247L |
probably benign |
Het |
| Or10ag53 |
C |
A |
2: 87,082,426 (GRCm39) |
F48L |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,062 (GRCm39) |
L69* |
probably null |
Het |
| Pik3cb |
C |
T |
9: 98,953,461 (GRCm39) |
D441N |
probably damaging |
Het |
| Qrich1 |
C |
T |
9: 108,418,935 (GRCm39) |
P464S |
possibly damaging |
Het |
| Rab17 |
A |
T |
1: 90,887,860 (GRCm39) |
|
probably null |
Het |
| Relch |
A |
G |
1: 105,592,239 (GRCm39) |
N136S |
probably damaging |
Het |
| Rspo3 |
A |
T |
10: 29,382,443 (GRCm39) |
L77H |
probably damaging |
Het |
| Spn |
G |
T |
7: 126,736,402 (GRCm39) |
T35K |
probably benign |
Het |
| Sult1d1 |
T |
A |
5: 87,707,703 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Tbc1d32 |
C |
A |
10: 55,999,627 (GRCm39) |
Q848H |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tram1l1 |
T |
A |
3: 124,115,293 (GRCm39) |
L151* |
probably null |
Het |
| Trappc12 |
T |
A |
12: 28,742,512 (GRCm39) |
I682L |
possibly damaging |
Het |
| Trav6d-4 |
A |
C |
14: 52,991,056 (GRCm39) |
T31P |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,275,910 (GRCm39) |
T503A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,542,116 (GRCm39) |
Y1567* |
probably null |
Het |
| Vmn1r228 |
T |
A |
17: 20,996,943 (GRCm39) |
K192* |
probably null |
Het |
| Zfp521 |
T |
A |
18: 13,977,330 (GRCm39) |
T1028S |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,320,397 (GRCm39) |
Q205L |
probably benign |
Het |
|
| Other mutations in Nabp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Nabp2
|
APN |
10 |
128,244,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02397:Nabp2
|
APN |
10 |
128,244,192 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
ANU22:Nabp2
|
UTSW |
10 |
128,244,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4585001:Nabp2
|
UTSW |
10 |
128,244,676 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1928:Nabp2
|
UTSW |
10 |
128,245,182 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4909:Nabp2
|
UTSW |
10 |
128,237,556 (GRCm39) |
unclassified |
probably benign |
|
|
R5724:Nabp2
|
UTSW |
10 |
128,245,555 (GRCm39) |
unclassified |
probably benign |
|
|
R9747:Nabp2
|
UTSW |
10 |
128,237,610 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2016-06-06 |
Incidental Mutation