Incidental Mutation 'R8302:Nabp1'
| ID |
646429 |
| 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 |
067790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R8302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51505021-51517584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51511498 bp (GRCm39)
|
| 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: 109,853,406 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
C |
10: 69,840,810 (GRCm39) |
S1937P |
possibly damaging |
Het |
| Atg5 |
T |
A |
10: 44,162,115 (GRCm39) |
D10E |
probably benign |
Het |
| Car12 |
A |
G |
9: 66,654,879 (GRCm39) |
D103G |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,276,316 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,066 (GRCm39) |
V104A |
probably damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,165,078 (GRCm39) |
H353L |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,021 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Exph5 |
A |
G |
9: 53,287,776 (GRCm39) |
E1619G |
possibly damaging |
Het |
| Frmd5 |
T |
A |
2: 121,378,060 (GRCm39) |
T435S |
unknown |
Het |
| Gm3371 |
T |
C |
14: 44,641,181 (GRCm39) |
R128G |
|
Het |
| Gper1 |
A |
G |
5: 139,412,030 (GRCm39) |
D125G |
probably benign |
Het |
| Il17re |
C |
A |
6: 113,443,280 (GRCm39) |
S340* |
probably null |
Het |
| Kazald1 |
T |
A |
19: 45,065,278 (GRCm39) |
L53Q |
probably damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,388 (GRCm39) |
H1731L |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,765,030 (GRCm39) |
S755P |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,032,772 (GRCm39) |
N526S |
probably benign |
Het |
| Map3k8 |
T |
C |
18: 4,334,064 (GRCm39) |
I343V |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,224,681 (GRCm39) |
S860P |
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,698 (GRCm39) |
Y195N |
possibly damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,056 (GRCm39) |
L157P |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,425,116 (GRCm39) |
I100L |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,586,987 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,430 (GRCm39) |
T248S |
possibly damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,933 (GRCm39) |
Y749C |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,974,163 (GRCm39) |
K93I |
probably damaging |
Het |
| Plpbp |
T |
C |
8: 27,539,216 (GRCm39) |
S109P |
|
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Psma6 |
A |
T |
12: 55,456,966 (GRCm39) |
Y103F |
probably benign |
Het |
| Ptpn3 |
A |
G |
4: 57,218,514 (GRCm39) |
F650L |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,164,094 (GRCm38) |
F562S |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,812,073 (GRCm39) |
D214G |
probably damaging |
Het |
| Rgs17 |
C |
T |
10: 5,812,525 (GRCm39) |
C58Y |
possibly damaging |
Het |
| Rnf6 |
A |
T |
5: 146,148,334 (GRCm39) |
V228E |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,105,122 (GRCm39) |
D667G |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,032,209 (GRCm39) |
V620D |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,249,686 (GRCm39) |
I153T |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,847,162 (GRCm39) |
V125A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,368,058 (GRCm39) |
F216L |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,533,024 (GRCm39) |
I208N |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,545,496 (GRCm39) |
M288T |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trmt2a |
T |
C |
16: 18,067,813 (GRCm39) |
V162A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,078,110 (GRCm39) |
I1167T |
probably benign |
Het |
| Wdr76 |
C |
A |
2: 121,341,044 (GRCm39) |
H30N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,407,923 (GRCm39) |
S3624P |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,955,249 (GRCm39) |
K942E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,893 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp943 |
A |
G |
17: 22,211,091 (GRCm39) |
H59R |
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 |
|
|
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 |
|
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'- AAGTGCTCAATATACCGGCATG -3'
(R):5'- CTGAAGCAAATATCAGGCAGTAC -3'
Sequencing Primer
(F):5'- GTGCTCAATATACCGGCATGTACAAG -3'
(R):5'- CAGGCAGTACTGAGTATAATAAACAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation