Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02397:Nabp2'

291708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nabp2

Ensembl Gene

ENSMUSG00000025374

Gene Name

nucleic acid binding protein 2

Synonyms

Obfc2b, 2610036N15Rik, Nabp2, SSB1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02397

Quality Score

Status

Chromosome

Chromosomal Location

128237264-128247361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128244192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 138 (N138I)

Ref Sequence

ENSEMBL: ENSMUSP00000131171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026439] [ENSMUST00000096386] [ENSMUST00000164199] [ENSMUST00000164664] [ENSMUST00000166608] [ENSMUST00000172348] [ENSMUST00000172238] [ENSMUST00000171494] [ENSMUST00000171342] [ENSMUST00000171370] [ENSMUST00000217826]

AlphaFold

Q8R2Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000026439
AA Change: N122I

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026439
Gene: ENSMUSG00000025374
AA Change: N122I

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	23	105	1.7e-9	PFAM
low complexity region	131	148	N/A	INTRINSIC
low complexity region	161	178	N/A	INTRINSIC
low complexity region	185	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096386

SMART Domains

Protein: ENSMUSP00000100869
Gene: ENSMUSG00000025373

Domain	Start	End	E-Value	Type
RING	18	56	1.54e-5	SMART
Pfam:USP8_interact	137	315	5.1e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164199
AA Change: N122I

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128634
Gene: ENSMUSG00000025374
AA Change: N122I

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	23	105	1.7e-9	PFAM
low complexity region	131	148	N/A	INTRINSIC
low complexity region	161	178	N/A	INTRINSIC
low complexity region	185	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164664
AA Change: N122I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127605
Gene: ENSMUSG00000025374
AA Change: N122I

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	22	105	5.8e-10	PFAM
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166577

SMART Domains

Protein: ENSMUSP00000128794
Gene: ENSMUSG00000014498

Domain	Start	End	E-Value	Type
ANK	18	48	5.09e-2	SMART
ANK	52	81	2.54e-2	SMART
ANK	88	117	1.34e-1	SMART
Blast:ANK	121	148	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166608
AA Change: N138I

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131171
Gene: ENSMUSG00000025374
AA Change: N138I

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	39	120	4.2e-9	PFAM
low complexity region	147	164	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	201	219	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167456

Predicted Effect

probably benign
Transcript: ENSMUST00000172348
AA Change: N122I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127015
Gene: ENSMUSG00000025374
AA Change: N122I

Domain	Start	End	E-Value	Type
Pfam:tRNA_anti-codon	22	105	6.1e-10	PFAM
low complexity region	131	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172238

Predicted Effect

probably benign
Transcript: ENSMUST00000171494

SMART Domains

Protein: ENSMUSP00000126842
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	65	5e-41	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000171342

SMART Domains

Protein: ENSMUSP00000132751
Gene: ENSMUSG00000025373

Domain	Start	End	E-Value	Type
RING	18	56	1.54e-5	SMART
Pfam:USP8_interact	137	315	2.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171370

SMART Domains

Protein: ENSMUSP00000127436
Gene: ENSMUSG00000025374

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	1	56	3e-35	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000217826

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 OBFC2B, 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]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete perinatal lethality, fetal growth retardation, abnormal limb development, abnormal cranium morphology, small rib cage, thin and porous bones, cleft palate, oligodactyly, increased apoptosis at E12.5 and increased genomic instability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,623,834 (GRCm39)	N400S	probably benign	Het
Adam12	T	A	7: 133,511,548 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,234,149 (GRCm39)		probably benign	Het
Amn	A	T	12: 111,240,913 (GRCm39)	Y139F	possibly damaging	Het
Ano10	C	A	9: 122,090,458 (GRCm39)	R285L	probably damaging	Het
Atad2b	A	G	12: 5,024,046 (GRCm39)	Y57C	probably damaging	Het
Brd8	T	C	18: 34,737,926 (GRCm39)	K786R	probably damaging	Het
Cacna2d1	T	C	5: 16,525,162 (GRCm39)		probably benign	Het
Card9	C	T	2: 26,242,341 (GRCm39)	D532N	probably damaging	Het
Cd22	T	C	7: 30,577,050 (GRCm39)	T86A	probably benign	Het
Cebpz	A	T	17: 79,230,690 (GRCm39)	D842E	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cspp1	A	G	1: 10,178,690 (GRCm39)	N713S	possibly damaging	Het
Eml5	T	C	12: 98,756,933 (GRCm39)	T1899A	probably benign	Het
Fpgs	T	C	2: 32,575,801 (GRCm39)	T381A	probably damaging	Het
Frmd7	G	A	X: 49,984,775 (GRCm39)	T465I	possibly damaging	Het
Gm9837	A	T	11: 53,360,987 (GRCm39)		probably benign	Het
Hectd3	C	A	4: 116,860,333 (GRCm39)	A816D	possibly damaging	Het
Itpripl2	A	G	7: 118,089,519 (GRCm39)	W347R	probably damaging	Het
Kcnc3	A	G	7: 44,245,218 (GRCm39)	T503A	probably damaging	Het
Mmadhc	T	C	2: 50,178,992 (GRCm39)	E142G	possibly damaging	Het
Obscn	A	G	11: 58,967,725 (GRCm39)	V2902A	possibly damaging	Het
Rbm8a2	T	C	1: 175,806,204 (GRCm39)	D91G	probably damaging	Het
Samd3	A	T	10: 26,109,474 (GRCm39)	Y134F	possibly damaging	Het
Slc11a2	A	G	15: 100,299,530 (GRCm39)	F58S	probably damaging	Het
Slitrk4	T	C	X: 63,316,290 (GRCm39)	T126A	probably damaging	Het
Sspo	C	A	6: 48,438,572 (GRCm39)	P1547T	probably benign	Het
Tecta	T	C	9: 42,306,294 (GRCm39)	S45G	probably damaging	Het
Tenm3	T	C	8: 48,689,729 (GRCm39)	T1937A	possibly damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trmt1l	T	A	1: 151,315,282 (GRCm39)	I156N	probably damaging	Het
Vmn1r71	C	T	7: 10,482,199 (GRCm39)	R163Q	probably benign	Het
Ythdf2	C	T	4: 131,938,757 (GRCm39)	G13D	probably damaging	Het
Zbtb7c	A	T	18: 76,270,047 (GRCm39)	Y45F	possibly damaging	Het
Zfc3h1	G	A	10: 115,243,890 (GRCm39)	M740I	probably damaging	Het

Other mutations in Nabp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Nabp2	APN	10	128,244,631 (GRCm39)	missense	probably damaging	0.98
ANU22:Nabp2	UTSW	10	128,244,631 (GRCm39)	missense	probably damaging	0.98
PIT4585001:Nabp2	UTSW	10	128,244,676 (GRCm39)	missense	possibly damaging	0.64
R1928:Nabp2	UTSW	10	128,245,182 (GRCm39)	missense	possibly damaging	0.89
R4909:Nabp2	UTSW	10	128,237,556 (GRCm39)	unclassified	probably benign
R5031:Nabp2	UTSW	10	128,245,497 (GRCm39)	unclassified	probably benign
R5724:Nabp2	UTSW	10	128,245,555 (GRCm39)	unclassified	probably benign
R9747:Nabp2	UTSW	10	128,237,610 (GRCm39)	nonsense	probably null

Posted On

2015-04-16