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

4933440J18Rik, Nbp1, 4930442A21Rik, Obfc2a, 4930434H03Rik, Ssb2, 5830411E10Rik, 4930488J04Rik

MMRRC Submission

039058-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R0898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51465862-51478425 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51471337 bp (GRCm38)

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] [ENSMUST00000189542] [ENSMUST00000190103]

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

noncoding transcript
Transcript: ENSMUST00000188303

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

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

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: 134,424,076 (GRCm38)		probably null	Het
Apmap	A	G	2: 150,585,749 (GRCm38)		probably benign	Het
Arhgap11a	T	C	2: 113,836,876 (GRCm38)	N442S	probably benign	Het
Bpifb5	C	T	2: 154,233,334 (GRCm38)	A394V	probably benign	Het
Brpf3	A	G	17: 28,806,990 (GRCm38)	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,164,081 (GRCm38)		probably benign	Het
Cdh15	G	C	8: 122,857,495 (GRCm38)	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,333,993 (GRCm38)		probably benign	Het
Cpm	A	C	10: 117,676,106 (GRCm38)		probably benign	Het
Crlf2	G	C	5: 109,557,138 (GRCm38)	P67R	probably damaging	Het
Ddx59	T	C	1: 136,416,941 (GRCm38)	Y117H	probably damaging	Het
Fam241b	A	G	10: 62,108,994 (GRCm38)	F98L	probably damaging	Het
Fmn2	G	A	1: 174,503,460 (GRCm38)	G472E	unknown	Het
Gcdh	T	C	8: 84,893,560 (GRCm38)	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,994,441 (GRCm38)		noncoding transcript	Het
Gmeb1	T	C	4: 132,234,782 (GRCm38)	T189A	probably benign	Het
Iqck	G	A	7: 118,971,441 (GRCm38)	C272Y	probably damaging	Het
Kcnn2	T	C	18: 45,559,476 (GRCm38)	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,767,956 (GRCm38)		probably benign	Het
Olfr761	T	C	17: 37,952,236 (GRCm38)	T263A	probably benign	Het
Olfr898	G	A	9: 38,349,442 (GRCm38)	V120M	probably damaging	Het
Pfkm	A	G	15: 98,128,230 (GRCm38)	I569V	probably benign	Het
Plcb1	A	T	2: 135,387,143 (GRCm38)	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,484,753 (GRCm38)	D140A	probably damaging	Het
Plxna2	A	G	1: 194,797,024 (GRCm38)	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,321,126 (GRCm38)	T498A	probably benign	Het
Prkar2b	A	T	12: 31,963,002 (GRCm38)	L372I	possibly damaging	Het
Rslcan18	T	C	13: 67,098,816 (GRCm38)	N120S	probably benign	Het
Sbf2	C	T	7: 110,371,652 (GRCm38)	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,233,501 (GRCm38)	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,304,349 (GRCm38)	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,433,149 (GRCm38)	T462A	probably damaging	Het
Sox11	T	C	12: 27,341,225 (GRCm38)	Y395C	probably damaging	Het
Taf2	T	C	15: 55,060,084 (GRCm38)	T266A	probably damaging	Het
Tanc1	C	T	2: 59,790,788 (GRCm38)	T317I	probably damaging	Het
Tnxb	T	C	17: 34,670,745 (GRCm38)	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,149,150 (GRCm38)	P115S	probably damaging	Het
Trmt10a	C	T	3: 138,149,518 (GRCm38)	P139L	probably damaging	Het
Zfp113	T	C	5: 138,144,789 (GRCm38)	S400G	probably benign	Het

Other mutations in Nabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Nabp1	APN	1	51,477,528 (GRCm38)	missense	probably damaging	1.00
kinkajou	UTSW	1	51,471,352 (GRCm38)	missense	possibly damaging	0.70
R1608:Nabp1	UTSW	1	51,473,003 (GRCm38)	splice site	probably null
R1614:Nabp1	UTSW	1	51,471,352 (GRCm38)	missense	possibly damaging	0.70
R1956:Nabp1	UTSW	1	51,477,845 (GRCm38)	missense	probably damaging	0.96
R2208:Nabp1	UTSW	1	51,477,614 (GRCm38)	nonsense	probably null
R4632:Nabp1	UTSW	1	51,474,602 (GRCm38)	nonsense	probably null
R5996:Nabp1	UTSW	1	51,471,385 (GRCm38)	missense	probably benign	0.00
R6754:Nabp1	UTSW	1	51,474,540 (GRCm38)	missense	probably damaging	0.97
R7322:Nabp1	UTSW	1	51,473,070 (GRCm38)	missense	probably damaging	0.98
R8251:Nabp1	UTSW	1	51,477,578 (GRCm38)	missense	probably benign	0.04
R8302:Nabp1	UTSW	1	51,472,339 (GRCm38)	missense	probably benign	0.00
X0063:Nabp1	UTSW	1	51,477,849 (GRCm38)	missense	probably benign	0.00
Z1176:Nabp1	UTSW	1	51,477,725 (GRCm38)	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