Incidental Mutation 'R1614:Nabp1'
ID 176972
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 039651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R1614 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 51505021-51517584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51510511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 164 (N164D)
Ref Sequence ENSEMBL: ENSMUSP00000140556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027279] [ENSMUST00000185534] [ENSMUST00000186003] [ENSMUST00000186684] [ENSMUST00000188051] [ENSMUST00000188204] [ENSMUST00000190103] [ENSMUST00000189542]
AlphaFold Q8BGW5
Predicted Effect possibly damaging
Transcript: ENSMUST00000027279
AA Change: N164D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: N164D

DomainStartEndE-ValueType
PDB:4OWX|B 10 142 2e-72 PDB
SCOP:d1fgua1 11 84 3e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185534
AA Change: N84D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107
AA Change: N84D

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185961
Predicted Effect possibly damaging
Transcript: ENSMUST00000186003
AA Change: N84D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107
AA Change: N84D

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000186684
AA Change: N84D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107
AA Change: N84D

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000188051
AA Change: N84D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139853
Gene: ENSMUSG00000026107
AA Change: N84D

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000188204
AA Change: N84D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107
AA Change: N84D

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000190103
AA Change: N164D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: N164D

DomainStartEndE-ValueType
Pfam:tRNA_anti-codon 27 108 2.8e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189542
AA Change: N84D

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107
AA Change: N84D

DomainStartEndE-ValueType
PDB:4OWX|B 1 62 2e-24 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188303
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 100% (53/53)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 A G 5: 77,158,412 (GRCm39) T165A probably benign Het
Atpaf1 A T 4: 115,653,954 (GRCm39) K201N possibly damaging Het
Cacna1b G T 2: 24,580,819 (GRCm39) Q676K possibly damaging Het
Ccdc88c A T 12: 100,879,243 (GRCm39) H1959Q probably benign Het
Cep162 T C 9: 87,094,985 (GRCm39) D808G probably damaging Het
Chct1 T G 11: 85,063,690 (GRCm39) S28A possibly damaging Het
Chtf18 A G 17: 25,946,064 (GRCm39) L42P probably benign Het
Cox7c A G 13: 86,193,904 (GRCm39) F40L probably benign Het
Dock7 C T 4: 98,949,517 (GRCm39) V442I probably benign Het
Dst T C 1: 34,314,344 (GRCm39) F4198S probably damaging Het
Fam13a T A 6: 58,917,169 (GRCm39) D569V probably damaging Het
Gm6741 T A 17: 91,544,424 (GRCm39) H62Q probably benign Het
Gnptab A G 10: 88,250,451 (GRCm39) T172A probably benign Het
Greb1 A G 12: 16,751,172 (GRCm39) S1013P probably damaging Het
Insl5 A T 4: 102,883,846 (GRCm39) L25* probably null Het
Ipo13 A G 4: 117,761,815 (GRCm39) S462P probably benign Het
Itgb1 G A 8: 129,446,546 (GRCm39) C401Y probably damaging Het
Kcnh7 G T 2: 62,680,948 (GRCm39) A213E probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Nop53 A G 7: 15,679,890 (GRCm39) V30A probably benign Het
Or1j17 T G 2: 36,578,321 (GRCm39) Y102* probably null Het
Or4a73 T A 2: 89,421,040 (GRCm39) I140L possibly damaging Het
Or4f54 T A 2: 111,123,411 (GRCm39) V266E probably damaging Het
Or4f62 T A 2: 111,986,862 (GRCm39) C189S probably damaging Het
Pcsk5 G A 19: 17,492,620 (GRCm39) R918C probably damaging Het
Pecam1 T C 11: 106,571,905 (GRCm39) D554G probably benign Het
Polr2a T C 11: 69,634,199 (GRCm39) I744V possibly damaging Het
Pop1 C A 15: 34,530,356 (GRCm39) A918D possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prmt3 A T 7: 49,476,467 (GRCm39) I359F possibly damaging Het
Proz G A 8: 13,116,904 (GRCm39) C152Y probably damaging Het
Ptgfr A C 3: 151,507,416 (GRCm39) Y316D probably benign Het
Ralgapa2 G T 2: 146,230,532 (GRCm39) S1011Y probably damaging Het
Rnf43 C T 11: 87,622,485 (GRCm39) R529* probably null Het
Slc17a6 G A 7: 51,296,025 (GRCm39) probably benign Het
Slc25a19 A T 11: 115,507,449 (GRCm39) C224* probably null Het
Smarcd3 A G 5: 24,799,874 (GRCm39) S299P possibly damaging Het
Stard9 T C 2: 120,528,156 (GRCm39) F1471S possibly damaging Het
Strada A C 11: 106,059,145 (GRCm39) V211G probably damaging Het
Tom1l1 T C 11: 90,574,080 (GRCm39) E68G probably damaging Het
Vmn2r27 T G 6: 124,200,893 (GRCm39) I355L probably benign Het
Vmn2r68 A T 7: 84,870,946 (GRCm39) M779K possibly damaging Het
Zbtb18 T C 1: 177,274,736 (GRCm39) L23P probably damaging Het
Zfp112 G T 7: 23,826,024 (GRCm39) C664F probably damaging Het
Zfp955a A T 17: 33,461,306 (GRCm39) N275K possibly damaging 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
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
R8251:Nabp1 UTSW 1 51,516,737 (GRCm39) missense probably benign 0.04
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'- AGCTGGTGTCTTAAGTAACTCACCCTC -3'
(R):5'- GTTAATACACTTGTCCAGCCCAGAGC -3'

Sequencing Primer
(F):5'- GGACAGGTTTTCAAGTGATACCC -3'
(R):5'- AGAATAAAAGTGCTGGTTTTTCCTGG -3'
Posted On 2014-04-24