Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00494:Nabp1'

7488

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nabp1

Ensembl Gene

ENSMUSG00000026107

Gene Name

nucleic acid binding protein 1

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL00494

Quality Score

Status

Chromosome

Chromosomal Location

51505021-51517584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51516687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 60 (D60E)

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 damaging
Transcript: ENSMUST00000027279
AA Change: D60E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: D60E

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

noncoding transcript
Transcript: ENSMUST00000185961

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 damaging
Transcript: ENSMUST00000190103
AA Change: D60E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: D60E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188303

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

Coding Region Coverage

Validation Efficiency

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,621,108 (GRCm39)	T271A	possibly damaging	Het
Amer3	A	G	1: 34,627,608 (GRCm39)	T616A	probably benign	Het
Cacna1d	A	T	14: 29,818,907 (GRCm39)	M1216K	probably damaging	Het
Clec16a	A	T	16: 10,413,760 (GRCm39)	K389M	probably damaging	Het
Grin2b	T	G	6: 135,713,329 (GRCm39)	M851L	possibly damaging	Het
Hapln1	T	C	13: 89,753,590 (GRCm39)	V252A	probably benign	Het
Hspa13	A	G	16: 75,554,880 (GRCm39)	V402A	possibly damaging	Het
Lrfn1	T	C	7: 28,159,442 (GRCm39)	Y454H	probably damaging	Het
Map3k21	G	A	8: 126,671,412 (GRCm39)	S900N	possibly damaging	Het
Mdm1	C	A	10: 118,000,346 (GRCm39)	H615N	probably damaging	Het
Meak7	T	C	8: 120,499,334 (GRCm39)	K53E	probably benign	Het
Nmur1	T	C	1: 86,314,084 (GRCm39)	E361G	probably benign	Het
Pms1	A	G	1: 53,245,715 (GRCm39)		probably benign	Het
Ralgapa1	T	G	12: 55,793,970 (GRCm39)	D555A	probably damaging	Het
Rbbp4	T	C	4: 129,203,946 (GRCm39)	E406G	probably benign	Het
Rp1l1	T	A	14: 64,266,174 (GRCm39)	C587S	probably benign	Het
Sez6l	A	T	5: 112,610,869 (GRCm39)	N516K	probably damaging	Het
Taar7e	T	C	10: 23,914,038 (GRCm39)	I176T	probably benign	Het
Tex14	G	T	11: 87,446,310 (GRCm39)	R1439S	probably damaging	Het
Tle3	T	A	9: 61,316,039 (GRCm39)		probably benign	Het
Xntrpc	T	A	7: 101,736,754 (GRCm39)	L327Q	probably damaging	Het

Other mutations in Nabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20