Incidental Mutation 'R8251:Nabp1'
ID |
640216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nabp1
|
Ensembl Gene |
ENSMUSG00000026107 |
Gene Name |
nucleic acid binding protein 1 |
Synonyms |
4930488J04Rik, Obfc2a, 4933440J18Rik, 4930442A21Rik, 5830411E10Rik, 4930434H03Rik, Ssb2, Nbp1 |
MMRRC Submission |
067677-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.160)
|
Stock # |
R8251 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
51505021-51517584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51516737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 44
(S44T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027279]
[ENSMUST00000185534]
[ENSMUST00000186003]
[ENSMUST00000186684]
[ENSMUST00000188051]
[ENSMUST00000188204]
[ENSMUST00000189542]
[ENSMUST00000190103]
|
AlphaFold |
Q8BGW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027279
AA Change: S44T
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000027279 Gene: ENSMUSG00000026107 AA Change: S44T
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
10 |
142 |
2e-72 |
PDB |
SCOP:d1fgua1
|
11 |
84 |
3e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185534
|
SMART Domains |
Protein: ENSMUSP00000140557 Gene: ENSMUSG00000026107
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
1 |
62 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186003
|
SMART Domains |
Protein: ENSMUSP00000140126 Gene: ENSMUSG00000026107
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
1 |
62 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186684
|
SMART Domains |
Protein: ENSMUSP00000140179 Gene: ENSMUSG00000026107
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
1 |
62 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188051
|
SMART Domains |
Protein: ENSMUSP00000139853 Gene: ENSMUSG00000026107
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
1 |
62 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188204
|
SMART Domains |
Protein: ENSMUSP00000140469 Gene: ENSMUSG00000026107
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
1 |
62 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189542
|
SMART Domains |
Protein: ENSMUSP00000140059 Gene: ENSMUSG00000026107
Domain | Start | End | E-Value | Type |
PDB:4OWX|B
|
1 |
62 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190103
AA Change: S44T
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140556 Gene: ENSMUSG00000026107 AA Change: S44T
Domain | Start | End | E-Value | Type |
Pfam:tRNA_anti-codon
|
27 |
108 |
2.8e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.0777 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (50/50) |
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 OBFC2A, 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]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad11 |
A |
T |
9: 103,968,906 (GRCm39) |
D463V |
possibly damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,591,884 (GRCm39) |
R68Q |
probably damaging |
Het |
Ankrd12 |
A |
T |
17: 66,291,554 (GRCm39) |
M1293K |
possibly damaging |
Het |
Arhgap21 |
T |
C |
2: 20,854,221 (GRCm39) |
T1724A |
probably benign |
Het |
C1qtnf12 |
T |
C |
4: 156,050,916 (GRCm39) |
I295T |
probably damaging |
Het |
Cacna1s |
G |
T |
1: 136,014,461 (GRCm39) |
G623W |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,784,765 (GRCm39) |
V416A |
possibly damaging |
Het |
Cenpe |
T |
A |
3: 134,957,445 (GRCm39) |
|
probably null |
Het |
Cep85l |
A |
T |
10: 53,157,450 (GRCm39) |
I751N |
probably damaging |
Het |
Corin |
T |
A |
5: 72,514,269 (GRCm39) |
D468V |
probably damaging |
Het |
Ctsr |
A |
G |
13: 61,310,592 (GRCm39) |
V51A |
probably damaging |
Het |
Dnah14 |
A |
C |
1: 181,492,430 (GRCm39) |
E1630A |
probably damaging |
Het |
Dsg4 |
C |
A |
18: 20,604,221 (GRCm39) |
A896E |
probably damaging |
Het |
Ear2 |
T |
C |
14: 44,340,477 (GRCm39) |
L45P |
probably benign |
Het |
Fshr |
T |
G |
17: 89,507,913 (GRCm39) |
D43A |
probably benign |
Het |
Gata6 |
G |
A |
18: 11,054,670 (GRCm39) |
G200S |
probably benign |
Het |
Gnaq |
T |
A |
19: 16,312,419 (GRCm39) |
M227K |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,232 (GRCm39) |
Q75R |
possibly damaging |
Het |
Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
Ints7 |
C |
T |
1: 191,353,545 (GRCm39) |
P957L |
unknown |
Het |
Jmjd1c |
T |
C |
10: 67,075,068 (GRCm39) |
V73A |
noncoding transcript |
Het |
Kansl1 |
A |
G |
11: 104,315,186 (GRCm39) |
I284T |
probably benign |
Het |
Kcnj9 |
A |
G |
1: 172,154,089 (GRCm39) |
S12P |
probably benign |
Het |
Krt16 |
A |
G |
11: 100,139,196 (GRCm39) |
|
probably null |
Het |
Lrguk |
A |
T |
6: 34,093,374 (GRCm39) |
T632S |
probably benign |
Het |
Man2b1 |
G |
A |
8: 85,821,758 (GRCm39) |
V687M |
probably damaging |
Het |
Mroh5 |
T |
C |
15: 73,655,002 (GRCm39) |
E653G |
probably benign |
Het |
Nt5dc3 |
C |
A |
10: 86,656,091 (GRCm39) |
H256Q |
probably damaging |
Het |
Or1j15 |
A |
C |
2: 36,459,467 (GRCm39) |
N286H |
probably damaging |
Het |
Or4a81 |
A |
T |
2: 89,619,567 (GRCm39) |
I43N |
probably damaging |
Het |
Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,646,353 (GRCm39) |
V720A |
probably benign |
Het |
Pnpla6 |
T |
A |
8: 3,582,399 (GRCm39) |
N706K |
probably benign |
Het |
Polr1b |
C |
A |
2: 128,965,086 (GRCm39) |
P724Q |
probably damaging |
Het |
Rbpjl |
A |
G |
2: 164,255,854 (GRCm39) |
E366G |
probably damaging |
Het |
Runx1t1 |
A |
G |
4: 13,846,947 (GRCm39) |
T244A |
possibly damaging |
Het |
Slitrk3 |
C |
T |
3: 72,956,729 (GRCm39) |
R681H |
possibly damaging |
Het |
Slu7 |
A |
G |
11: 43,330,128 (GRCm39) |
Y185C |
probably damaging |
Het |
Snupn |
T |
A |
9: 56,888,137 (GRCm39) |
F231L |
probably damaging |
Het |
Srpk2 |
G |
A |
5: 23,729,266 (GRCm39) |
P458S |
probably benign |
Het |
St3gal5 |
T |
A |
6: 72,126,144 (GRCm39) |
F330I |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,922,962 (GRCm39) |
D878G |
possibly damaging |
Het |
Tex44 |
A |
G |
1: 86,354,936 (GRCm39) |
N282D |
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,100,094 (GRCm39) |
I150V |
probably benign |
Het |
Trbv21 |
A |
G |
6: 41,179,540 (GRCm39) |
|
probably benign |
Het |
Vmn2r70 |
A |
T |
7: 85,215,186 (GRCm39) |
L116* |
probably null |
Het |
Vps36 |
A |
G |
8: 22,682,932 (GRCm39) |
T16A |
probably benign |
Het |
Wdr17 |
C |
A |
8: 55,110,267 (GRCm39) |
G837W |
probably damaging |
Het |
Zfp397 |
T |
C |
18: 24,093,361 (GRCm39) |
V282A |
probably benign |
Het |
|
Other mutations in Nabp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00494:Nabp1
|
APN |
1 |
51,516,687 (GRCm39) |
missense |
probably damaging |
1.00 |
kinkajou
|
UTSW |
1 |
51,510,511 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0898:Nabp1
|
UTSW |
1 |
51,510,496 (GRCm39) |
missense |
probably benign |
|
R1608:Nabp1
|
UTSW |
1 |
51,512,162 (GRCm39) |
splice site |
probably null |
|
R1614:Nabp1
|
UTSW |
1 |
51,510,511 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1956:Nabp1
|
UTSW |
1 |
51,517,004 (GRCm39) |
missense |
probably damaging |
0.96 |
R2208:Nabp1
|
UTSW |
1 |
51,516,773 (GRCm39) |
nonsense |
probably null |
|
R4632:Nabp1
|
UTSW |
1 |
51,513,761 (GRCm39) |
nonsense |
probably null |
|
R5996:Nabp1
|
UTSW |
1 |
51,510,544 (GRCm39) |
missense |
probably benign |
0.00 |
R6754:Nabp1
|
UTSW |
1 |
51,513,699 (GRCm39) |
missense |
probably damaging |
0.97 |
R7322:Nabp1
|
UTSW |
1 |
51,512,229 (GRCm39) |
missense |
probably damaging |
0.98 |
R8302:Nabp1
|
UTSW |
1 |
51,511,498 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:Nabp1
|
UTSW |
1 |
51,517,008 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Nabp1
|
UTSW |
1 |
51,516,884 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAGAGCCAAACAACTTCAG -3'
(R):5'- TAGGTAAGTGAGGTCCGCAG -3'
Sequencing Primer
(F):5'- CTTCAGAACCCCGAAGTCG -3'
(R):5'- AGAGCTCGGACCTCTTCC -3'
|
Posted On |
2020-07-28 |