Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Nabp1'

176597

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

039645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51465862-51478425 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 51473003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027279] [ENSMUST00000027279] [ENSMUST00000185534] [ENSMUST00000185534] [ENSMUST00000185534] [ENSMUST00000185534] [ENSMUST00000186003] [ENSMUST00000186003] [ENSMUST00000186684] [ENSMUST00000186684] [ENSMUST00000186684] [ENSMUST00000186684] [ENSMUST00000188051] [ENSMUST00000188051] [ENSMUST00000188051] [ENSMUST00000188051] [ENSMUST00000188204] [ENSMUST00000188204] [ENSMUST00000188204] [ENSMUST00000188204] [ENSMUST00000189542] [ENSMUST00000189542] [ENSMUST00000190103] [ENSMUST00000190103]

AlphaFold

Q8BGW5

Predicted Effect

probably null
Transcript: ENSMUST00000027279

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107

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

Predicted Effect

probably null
Transcript: ENSMUST00000027279

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107

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

Predicted Effect

probably null
Transcript: ENSMUST00000185534

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107

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

Predicted Effect

probably null
Transcript: ENSMUST00000185534

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107

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

Predicted Effect

probably null
Transcript: ENSMUST00000185534

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107

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

Predicted Effect

probably null
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: ENSMUST00000186003

SMART Domains

Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107

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

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000188204

SMART Domains

Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107

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

SMART Domains

Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190103

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190103

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fcho2	T	C	13: 98,726,198	D757G	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shisa8	G	A	15: 82,208,555	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,354,779	V89A	probably benign	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Stag3	T	A	5: 138,298,639		probably null	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500	H628R	probably damaging	Het
Zfp810	T	C	9: 22,278,920	I231V	probably benign	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
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
R6754:Nabp1	UTSW	1	51474540	missense	probably damaging	0.97
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'- GTACTGCCTGATATTTGCTTCAGTTTGC -3'
(R):5'- GCTCTTAGCCTATAAGAAGTCCTAGCCC -3'

Sequencing Primer
(F):5'- aatttcttatcctatttccaacctcc -3'
(R):5'- CAGATTCACAGTGATTGGGC -3'

Posted On

2014-04-24