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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000186003
SMART Domains Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000186684
SMART Domains Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000188051
SMART Domains Protein: ENSMUSP00000139853
Gene: ENSMUSG00000026107

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000188204
SMART Domains Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000189542
SMART Domains Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:tRNA_anti-codon 27 108 2.8e-7 PFAM
Meta Mutation Damage Score 0.0777 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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