Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Nabp1'

481101

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

044175-MU

Accession Numbers

Essential gene?

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

Stock #

R5996 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51505021-51517584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51510544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 153 (S153P)

Ref Sequence

ENSEMBL: ENSMUSP00000140556 (fasta)

Gene Model

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

AlphaFold

Q8BGW5

Predicted Effect

probably benign
Transcript: ENSMUST00000027279
AA Change: S153P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: S153P

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: S73P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140557
Gene: ENSMUSG00000026107
AA Change: S73P

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
AA Change: S73P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140126
Gene: ENSMUSG00000026107
AA Change: S73P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186684
AA Change: S73P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107
AA Change: S73P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188051
AA Change: S73P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139853
Gene: ENSMUSG00000026107
AA Change: S73P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188204
AA Change: S73P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140469
Gene: ENSMUSG00000026107
AA Change: S73P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190103
AA Change: S153P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: S153P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189542
AA Change: S73P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140059
Gene: ENSMUSG00000026107
AA Change: S73P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188303

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,812,869 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,519,287 (GRCm39)		probably null	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 106,499,672 (GRCm39)	M519T	probably benign	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stab1	G	T	14: 30,861,508 (GRCm39)	R2500S	probably benign	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,225,213 (GRCm39)	S633P	probably damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	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
R1608:Nabp1	UTSW	1	51,512,162 (GRCm39)	splice site	probably null
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
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'- CCCGTAAGAGACAAAGTTTTCAC -3'
(R):5'- AGCTCACATGTTTGCGTTATAG -3'

Sequencing Primer
(F):5'- GCACTAAGTGTTCAAGTAGGTCATG -3'
(R):5'- AGAATAAAAGTGCTGGTTTTTCCTGG -3'

Posted On

2017-06-26