Mutagenetix > Incidental Mutation

Incidental Mutation 'R0898:Nabp1'

83735

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

039058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R0898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51505021-51517584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51510496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 169 (I169V)

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

probably benign
Transcript: ENSMUST00000027279
AA Change: I169V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: I169V

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
AA Change: I89V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107
AA Change: I89V

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	62	2e-24	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185961

Predicted Effect

probably benign
Transcript: ENSMUST00000186003
AA Change: I89V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107
AA Change: I89V

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	62	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000186684
AA Change: I89V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107
AA Change: I89V

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	62	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000188051
AA Change: I89V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139853
Gene: ENSMUSG00000026107
AA Change: I89V

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	62	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000188204
AA Change: I89V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107
AA Change: I89V

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	62	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000190103
AA Change: I169V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: I169V

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	27	108	2.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189542
AA Change: I89V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107
AA Change: I89V

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	62	2e-24	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188303

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

98% (42/43)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	T	A	1: 134,351,814 (GRCm39)		probably null	Het
Apmap	A	G	2: 150,427,669 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,667,221 (GRCm39)	N442S	probably benign	Het
Bpifb5	C	T	2: 154,075,254 (GRCm39)	A394V	probably benign	Het
Brpf3	A	G	17: 29,025,964 (GRCm39)	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,383,055 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,373,153 (GRCm39)		probably benign	Het
Cpm	A	C	10: 117,512,011 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Ddx59	T	C	1: 136,344,679 (GRCm39)	Y117H	probably damaging	Het
Fam241b	A	G	10: 61,944,773 (GRCm39)	F98L	probably damaging	Het
Fmn2	G	A	1: 174,331,026 (GRCm39)	G472E	unknown	Het
Gcdh	T	C	8: 85,620,189 (GRCm39)	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,866,290 (GRCm39)		noncoding transcript	Het
Gmeb1	T	C	4: 131,962,093 (GRCm39)	T189A	probably benign	Het
Iqck	G	A	7: 118,570,664 (GRCm39)	C272Y	probably damaging	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,904,490 (GRCm39)		probably benign	Het
Or14j8	T	C	17: 38,263,127 (GRCm39)	T263A	probably benign	Het
Or8c20	G	A	9: 38,260,738 (GRCm39)	V120M	probably damaging	Het
Pfkm	A	G	15: 98,026,111 (GRCm39)	I569V	probably benign	Het
Plcb1	A	T	2: 135,229,063 (GRCm39)	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,366,806 (GRCm39)	D140A	probably damaging	Het
Plxna2	A	G	1: 194,479,332 (GRCm39)	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,248,864 (GRCm39)	T498A	probably benign	Het
Prkar2b	A	T	12: 32,013,001 (GRCm39)	L372I	possibly damaging	Het
Rslcan18	T	C	13: 67,246,880 (GRCm39)	N120S	probably benign	Het
Sbf2	C	T	7: 109,970,859 (GRCm39)	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,069,370 (GRCm39)	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,254,349 (GRCm39)	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,744,075 (GRCm39)	T462A	probably damaging	Het
Sox11	T	C	12: 27,391,224 (GRCm39)	Y395C	probably damaging	Het
Taf2	T	C	15: 54,923,480 (GRCm39)	T266A	probably damaging	Het
Tanc1	C	T	2: 59,621,132 (GRCm39)	T317I	probably damaging	Het
Tnxb	T	C	17: 34,889,719 (GRCm39)	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,282,207 (GRCm39)	P115S	probably damaging	Het
Trmt10a	C	T	3: 137,855,279 (GRCm39)	P139L	probably damaging	Het
Zfp113	T	C	5: 138,143,051 (GRCm39)	S400G	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
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
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

2013-11-08