Mutagenetix > Incidental Mutations

Incidental Mutation 'R6754:Nabp1'

530935

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R6754 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51465862-51478425 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51474540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 99 (I99T)

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 damaging
Transcript: ENSMUST00000027279
AA Change: I99T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: I99T

Domain	Start	End	E-Value	Type
PDB:4OWX\|B	10	142	2e-72	PDB
SCOP:d1fgua1	11	84	3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185534
AA Change: I19T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107
AA Change: I19T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185961

Predicted Effect

probably damaging
Transcript: ENSMUST00000186003
AA Change: I19T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107
AA Change: I19T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000186684
AA Change: I19T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107
AA Change: I19T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188051
AA Change: I19T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139853
Gene: ENSMUSG00000026107
AA Change: I19T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188204
AA Change: I19T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107
AA Change: I19T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188303

Predicted Effect

probably damaging
Transcript: ENSMUST00000189542
AA Change: I19T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107
AA Change: I19T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000190103
AA Change: I99T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: I99T

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,883,358	F352L	probably damaging	Het
Acta2	T	C	19: 34,244,983	D246G	probably damaging	Het
Ank2	A	G	3: 127,096,839		probably benign	Het
Bmpr2	T	A	1: 59,870,280	I971N	probably damaging	Het
C9	C	A	15: 6,489,943	C8*	probably null	Het
Casp2	T	A	6: 42,269,330	N207K	probably damaging	Het
Cd302	T	G	2: 60,272,107	D56A	probably benign	Het
Cecr2	C	T	6: 120,757,578	P605S	probably damaging	Het
Cep152	A	G	2: 125,587,668	V723A	probably damaging	Het
Col17a1	C	T	19: 47,650,721		probably null	Het
Ctsk	T	C	3: 95,502,685	V168A	probably damaging	Het
Cyp2c54	A	T	19: 40,071,560	N176K	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
F5	A	G	1: 164,193,763	D1269G	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Hivep2	G	A	10: 14,129,638	G660D	probably benign	Het
Hspb3	A	T	13: 113,663,152	I114K	probably damaging	Het
Itgb7	T	G	15: 102,216,160	*807C	probably null	Het
Kbtbd2	A	G	6: 56,779,254	V499A	probably damaging	Het
Lemd3	A	T	10: 120,933,660	I589N	probably damaging	Het
Mettl13	T	C	1: 162,548,123	Y45C	probably damaging	Het
Mllt6	C	T	11: 97,674,447	T571I	probably damaging	Het
Mrvi1	G	A	7: 110,929,512	P43S	probably damaging	Het
Ndufa4	A	G	6: 11,906,053	V33A	probably benign	Het
Nr1h5	A	G	3: 102,949,597	S200P	probably damaging	Het
Ntsr1	G	A	2: 180,542,683	R393H	probably benign	Het
Olfr115	T	C	17: 37,610,155	N199D	probably benign	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Pcdhb21	A	T	18: 37,514,683	K288N	probably benign	Het
Pla2g6	T	C	15: 79,306,310	N351D	probably benign	Het
Polg	T	C	7: 79,459,836	E411G	probably damaging	Het
Ppp1r32	A	T	19: 10,477,089	Y328N	probably damaging	Het
Prdm11	A	G	2: 93,013,792	L31P	probably damaging	Het
Rab27b	G	A	18: 69,996,103	T40I	probably damaging	Het
Rnf219	C	T	14: 104,503,414	E191K	probably damaging	Het
Ruvbl2	T	C	7: 45,428,758	D97G	probably benign	Het
Sema3a	T	C	5: 13,599,275	V664A	possibly damaging	Het
Sh2d3c	T	C	2: 32,754,530	S842P	probably damaging	Het
Spam1	A	G	6: 24,796,316	T89A	probably damaging	Het
Stab1	C	T	14: 31,141,081	G2187E	probably benign	Het
Tff2	C	A	17: 31,144,233	A6S	probably benign	Het
Trim80	T	C	11: 115,448,174	V610A	probably damaging	Het
Trp53bp1	A	G	2: 121,270,576	V47A	possibly damaging	Het
Ufl1	G	A	4: 25,267,796	Q292*	probably null	Het
Ulk1	A	T	5: 110,790,393	V571E	possibly damaging	Het
Usp24	A	T	4: 106,360,420	N447Y	probably damaging	Het
Vmn1r81	A	T	7: 12,259,847	I278K	probably damaging	Het

Other mutations in Nabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Nabp1	APN	1	51477528	missense	probably damaging	1.00
kinkajou	UTSW	1	51471352	missense	possibly damaging	0.70
R0898:Nabp1	UTSW	1	51471337	missense	probably benign
R1608:Nabp1	UTSW	1	51473003	splice site	probably null
R1614:Nabp1	UTSW	1	51471352	missense	possibly damaging	0.70
R1956:Nabp1	UTSW	1	51477845	missense	probably damaging	0.96
R2208:Nabp1	UTSW	1	51477614	nonsense	probably null
R4632:Nabp1	UTSW	1	51474602	nonsense	probably null
R5996:Nabp1	UTSW	1	51471385	missense	probably benign	0.00
R7322:Nabp1	UTSW	1	51473070	missense	probably damaging	0.98
R8251:Nabp1	UTSW	1	51477578	missense	probably benign	0.04
R8302:Nabp1	UTSW	1	51472339	missense	probably benign	0.00
X0063:Nabp1	UTSW	1	51477849	missense	probably benign	0.00
Z1176:Nabp1	UTSW	1	51477725	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGTCTAAACACAGGTCTGCTAG -3'
(R):5'- GATGATGTCTTAATGTGGCAGTAGA -3'

Sequencing Primer
(F):5'- GGTCTGCTAGGAAAAGCTTACCTTC -3'
(R):5'- TGTCTTAATGTGGCAGTAGAATTTTC -3'

Posted On

2018-08-01