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

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

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

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

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51505021-51517584 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 51512162 bp (GRCm39)

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188303

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: 30,813,775 (GRCm39)	S797P	probably damaging	Het
Akap9	T	C	5: 4,011,783 (GRCm39)	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,279,375 (GRCm39)	D74G	probably damaging	Het
B3gat1	T	C	9: 26,663,112 (GRCm39)	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 123,374,448 (GRCm39)	V99D	probably damaging	Het
Celsr2	C	T	3: 108,309,799 (GRCm39)	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,749,078 (GRCm39)	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,742,446 (GRCm39)	M3L	probably benign	Het
Dnah12	C	T	14: 26,488,147 (GRCm39)	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,456,364 (GRCm39)	D86V	probably damaging	Het
Evx2	T	G	2: 74,488,195 (GRCm39)	K208N	probably damaging	Het
F13a1	A	G	13: 37,052,785 (GRCm39)	V718A	probably damaging	Het
Fcho2	T	C	13: 98,862,706 (GRCm39)	D757G	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fryl	C	T	5: 73,232,094 (GRCm39)	W424*	probably null	Het
Gata3	G	T	2: 9,879,579 (GRCm39)	Y97*	probably null	Het
Gm15446	T	A	5: 110,090,323 (GRCm39)	C192S	probably damaging	Het
Hdac10	A	T	15: 89,009,521 (GRCm39)	D470E	probably benign	Het
Ier2	A	G	8: 85,389,055 (GRCm39)	L109P	probably benign	Het
Iftap	T	C	2: 101,440,916 (GRCm39)	E29G	probably damaging	Het
Kcnh2	T	C	5: 24,527,217 (GRCm39)	T559A	probably benign	Het
Khk	C	T	5: 31,087,938 (GRCm39)	A204V	probably damaging	Het
Kndc1	T	A	7: 139,507,321 (GRCm39)	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,798,919 (GRCm39)	S41G	probably benign	Het
Nphp3	A	G	9: 103,913,039 (GRCm39)	D939G	probably benign	Het
Or5e1	A	T	7: 108,354,309 (GRCm39)	N82I	probably damaging	Het
Plcg2	T	C	8: 118,340,974 (GRCm39)	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,134,424 (GRCm39)	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,853,112 (GRCm39)	D168G	probably benign	Het
Shisa8	G	A	15: 82,092,756 (GRCm39)	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,054,204 (GRCm39)	V89A	probably benign	Het
Slc40a1	C	T	1: 45,950,457 (GRCm39)	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,291,496 (GRCm39)	Y373*	probably null	Het
Slf2	T	C	19: 44,937,440 (GRCm39)	V722A	probably benign	Het
Spanxn4	A	G	12: 62,734,624 (GRCm39)		noncoding transcript	Het
Stag3	T	A	5: 138,296,901 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,628,038 (GRCm39)	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,906,043 (GRCm39)	M286L	probably benign	Het
Top1	T	A	2: 160,545,515 (GRCm39)	N294K	probably benign	Het
Tpr	T	G	1: 150,302,644 (GRCm39)	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,254,154 (GRCm39)	S126A	probably benign	Het
Ttc41	A	G	10: 86,611,857 (GRCm39)	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,439,376 (GRCm39)	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,180,907 (GRCm39)	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500 (GRCm39)	H628R	probably damaging	Het
Zfp810	T	C	9: 22,190,216 (GRCm39)	I231V	probably benign	Het

Other mutations in Nabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Nabp1	APN	1	51,516,687 (GRCm39)	missense	probably damaging	1.00
kinkajou	UTSW	1	51,510,511 (GRCm39)	missense	possibly damaging	0.70
R0898:Nabp1	UTSW	1	51,510,496 (GRCm39)	missense	probably benign
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

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