Incidental Mutation 'R2208:Nabp1'
| ID |
236756 |
| 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 |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51465862-51478425 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 51477614 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 32
(R32*)
|
| 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: R32*
|
| SMART Domains |
Protein: ENSMUSP00000027279
Gene: ENSMUSG00000026107
AA Change: R32*
| 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: R32*
|
| SMART Domains |
Protein: ENSMUSP00000140556
Gene: ENSMUSG00000026107
AA Change: R32*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA_anti-codon
|
27 |
108 |
2.8e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
A |
15: 8,194,403 (GRCm38) |
N883K |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,017,732 (GRCm38) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,533,455 (GRCm38) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,532,344 (GRCm38) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,960 (GRCm38) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,841,178 (GRCm38) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,336,029 (GRCm38) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,609,382 (GRCm38) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,738,985 (GRCm38) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,678,099 (GRCm38) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,265,355 (GRCm38) |
V22D |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,560,961 (GRCm38) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,556,936 (GRCm38) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 115,126,594 (GRCm38) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,791,597 (GRCm38) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,988,762 (GRCm38) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,472,684 (GRCm38) |
|
probably benign |
Het |
| Gm14139 |
T |
A |
2: 150,193,145 (GRCm38) |
V462E |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm38) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,023,453 (GRCm38) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,380,297 (GRCm38) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 100,102,939 (GRCm38) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,247,877 (GRCm38) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,855,790 (GRCm38) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,614,415 (GRCm38) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,134,109 (GRCm38) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,590,108 (GRCm38) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,871,549 (GRCm38) |
|
noncoding transcript |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,965,719 (GRCm38) |
D196G |
probably damaging |
Het |
| Olfr747 |
T |
C |
14: 50,681,563 (GRCm38) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,365,802 (GRCm38) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,250,347 (GRCm38) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,696,131 (GRCm38) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,999,639 (GRCm38) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,799,264 (GRCm38) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,269,172 (GRCm38) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,617,964 (GRCm38) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,232 (GRCm38) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,402,088 (GRCm38) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,906,318 (GRCm38) |
T92A |
possibly damaging |
Het |
| Tarsl2 |
T |
C |
7: 65,682,848 (GRCm38) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,792 (GRCm38) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 50,866,864 (GRCm38) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,214,563 (GRCm38) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,079,240 (GRCm38) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 30,004,246 (GRCm38) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,297,443 (GRCm38) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 25,860,388 (GRCm38) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 26,974,124 (GRCm38) |
C168R |
possibly damaging |
Het |
|
| Other mutations in Nabp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Nabp1
|
APN |
1 |
51,477,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
kinkajou
|
UTSW |
1 |
51,471,352 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0898:Nabp1
|
UTSW |
1 |
51,471,337 (GRCm38) |
missense |
probably benign |
|
|
R1608:Nabp1
|
UTSW |
1 |
51,473,003 (GRCm38) |
splice site |
probably null |
|
|
R1614:Nabp1
|
UTSW |
1 |
51,471,352 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1956:Nabp1
|
UTSW |
1 |
51,477,845 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4632:Nabp1
|
UTSW |
1 |
51,474,602 (GRCm38) |
nonsense |
probably null |
|
|
R5996:Nabp1
|
UTSW |
1 |
51,471,385 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6754:Nabp1
|
UTSW |
1 |
51,474,540 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7322:Nabp1
|
UTSW |
1 |
51,473,070 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8251:Nabp1
|
UTSW |
1 |
51,477,578 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8302:Nabp1
|
UTSW |
1 |
51,472,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0063:Nabp1
|
UTSW |
1 |
51,477,849 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Nabp1
|
UTSW |
1 |
51,477,725 (GRCm38) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCAGAACCCCGAAGTCG -3'
(R):5'- ATAGGTAAGTGAGGTCCGCAGC -3'
Sequencing Primer
(F):5'- CGAAGTCGGCCAAACCC -3'
(R):5'- CCACACCCTCGAGAGCTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation