Mutagenetix > Incidental Mutations

Incidental Mutation 'R8302:Nabp1'

646429

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R8302 (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 T at 51472339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 140 (F140L)

Ref Sequence

ENSEMBL: ENSMUSP00000027279 (fasta)

Gene Model

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

AlphaFold

Q8BGW5

Predicted Effect

probably benign
Transcript: ENSMUST00000027279
AA Change: F140L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: F140L

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
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107
AA Change: F60L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186003
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107
AA Change: F60L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186684
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107
AA Change: F60L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188051
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139853
Gene: ENSMUSG00000026107
AA Change: F60L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188204
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107
AA Change: F60L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189542
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107
AA Change: F60L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190103
AA Change: F140L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: F140L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,962,580		probably null	Het
Ank3	T	C	10: 70,004,980	S1937P	possibly damaging	Het
Atg5	T	A	10: 44,286,119	D10E	probably benign	Het
Car12	A	G	9: 66,747,597	D103G	probably benign	Het
Cpa3	A	G	3: 20,222,152	Y306H	probably damaging	Het
Cyp2c40	A	G	19: 39,807,622	V104A	probably damaging	Het
Cyp2c66	A	T	19: 39,176,634	H353L	probably damaging	Het
Cyp2d22	A	G	15: 82,371,820		probably null	Het
Dcp1a	A	G	14: 30,522,926	T570A	possibly damaging	Het
Exph5	A	G	9: 53,376,476	E1619G	possibly damaging	Het
Frmd5	T	A	2: 121,547,579	T435S	unknown	Het
Gm3371	T	C	14: 44,403,724	R128G		Het
Gper1	A	G	5: 139,426,275	D125G	probably benign	Het
Il17re	C	A	6: 113,466,319	S340*	probably null	Het
Kazald1	T	A	19: 45,076,839	L53Q	probably damaging	Het
Kdm3b	A	T	18: 34,834,335	H1731L	probably damaging	Het
Kif20a	T	C	18: 34,631,977	S755P	probably damaging	Het
Lrch1	T	C	14: 74,795,332	N526S	probably benign	Het
Map3k8	T	C	18: 4,334,064	I343V	probably damaging	Het
Ncor1	A	G	11: 62,333,855	S860P	probably benign	Het
Ndufaf5	T	A	2: 140,188,778	Y195N	possibly damaging	Het
Nsfl1c	T	C	2: 151,504,136	L157P	probably damaging	Het
Olfr1199	T	A	2: 88,756,643	I11F	possibly damaging	Het
Olfr170	T	A	16: 19,606,366	I100L	probably benign	Het
Olfr994	T	A	2: 85,430,086	T248S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,498	Y749C	probably damaging	Het
Plcz1	T	A	6: 140,028,437	K93I	probably damaging	Het
Plpbp	T	C	8: 27,049,188	S109P		Het
Prkdc	G	A	16: 15,836,082	R3901H	probably damaging	Het
Psma6	A	T	12: 55,410,181	Y103F	probably benign	Het
Ptpn3	A	G	4: 57,218,514	F650L	probably benign	Het
Pxk	T	C	14: 8,164,094	F562S	probably damaging	Het
Rbl2	A	G	8: 91,085,445	D214G	probably damaging	Het
Rgs17	C	T	10: 5,862,525	C58Y	possibly damaging	Het
Rnf6	A	T	5: 146,211,524	V228E	probably benign	Het
Sardh	T	C	2: 27,215,110	D667G	probably benign	Het
Slc12a1	T	A	2: 125,190,289	V620D	probably damaging	Het
Slc39a7	A	G	17: 34,030,712	I153T	probably damaging	Het
Slc5a11	T	C	7: 123,247,939	V125A	probably damaging	Het
Slc9c1	T	C	16: 45,547,695	F216L	probably benign	Het
Strip1	A	T	3: 107,625,708	I208N	probably damaging	Het
Top1	T	C	2: 160,703,576	M288T	probably damaging	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trmt2a	T	C	16: 18,249,949	V162A	probably damaging	Het
Wdr35	T	C	12: 9,028,110	I1167T	probably benign	Het
Wdr76	C	A	2: 121,510,563	H30N	probably benign	Het
Zan	A	G	5: 137,409,661	S3624P	unknown	Het
Zc3h7a	T	C	16: 11,137,385	K942E	probably damaging	Het
Zfp292	A	G	4: 34,810,893	V722A	possibly damaging	Het
Zfp943	A	G	17: 21,992,110	H59R	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
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
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
X0063:Nabp1	UTSW	1	51477849	missense	probably benign	0.00
Z1176:Nabp1	UTSW	1	51477725	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTGCTCAATATACCGGCATG -3'
(R):5'- CTGAAGCAAATATCAGGCAGTAC -3'

Sequencing Primer
(F):5'- GTGCTCAATATACCGGCATGTACAAG -3'
(R):5'- CAGGCAGTACTGAGTATAATAAACAC -3'

Posted On

2020-09-02