Mutagenetix > Incidental Mutations

Incidental Mutation 'R4632:Nabp1'

349239

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

041897-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51465862-51478425 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51474602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 78 (Y78*)

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 null
Transcript: ENSMUST00000027279
AA Change: Y78*

SMART Domains

Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: Y78*

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

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: ENSMUST00000186684

SMART Domains

Protein: ENSMUSP00000140179
Gene: ENSMUSG00000026107

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

Predicted Effect

probably benign
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 benign
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 null
Transcript: ENSMUST00000190103
AA Change: Y78*

SMART Domains

Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: Y78*

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Abcg1	T	C	17: 31,064,473	V44A	probably benign	Het
Abr	C	T	11: 76,509,019	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382		probably null	Het
Agbl1	A	G	7: 76,413,685	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankar	T	A	1: 72,647,184	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,962,302	H166R	probably damaging	Het
Arl16	A	G	11: 120,465,784	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438	Q895L	possibly damaging	Het
Atp13a5	T	A	16: 29,348,719	R138W	probably damaging	Het
Auts2	G	A	5: 131,472,275	T309M	probably damaging	Het
C6	A	T	15: 4,759,868	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855	T1525A	possibly damaging	Het
Chpf2	A	G	5: 24,591,831	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823	I99F	probably damaging	Het
Gm609	T	G	16: 45,417,908	H181P	probably benign	Het
Gnat3	G	A	5: 18,015,366		probably null	Het
Hykk	T	C	9: 54,946,516	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Krt13	A	G	11: 100,121,224	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,809,528	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129		probably null	Het
Lrriq1	C	T	10: 103,221,427	V171I	probably damaging	Het
Map3k4	C	G	17: 12,232,504	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664	C1115Y	probably benign	Het
Nos2	T	C	11: 78,957,591	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893	D87G	probably benign	Het
Olfr15	C	T	16: 3,839,087	T38M	probably damaging	Het
Oog3	A	G	4: 144,158,128	F413L	probably benign	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044		probably null	Het
Ppm1e	G	A	11: 87,231,530	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Samd12	T	A	15: 53,719,671	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,896,760	V211E	probably benign	Het
Setx	C	T	2: 29,148,615	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678	Q553H	probably damaging	Het
Svs2	G	T	2: 164,237,747	T80N	probably benign	Het
Tanc1	C	A	2: 59,795,835	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368	C186*	probably null	Het
Timp2	C	T	11: 118,303,772	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038	D245G	probably benign	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981	F501S	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
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'- AGTCTCCAAAGGCAAAATTAGTG -3'
(R):5'- GCAGTTTAGGGAGATGCCTAAAA -3'

Sequencing Primer
(F):5'- GCACTTTAATACTTACTCTCCAA -3'
(R):5'- ATAGCTGACTGTGAGCATCC -3'

Posted On

2015-10-08