Incidental Mutation 'R2208:Nabp1'
| ID |
236756 |
| 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 |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51505021-51517584 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 51516773 bp (GRCm39)
|
| 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]
[ENSMUST00000190103]
[ENSMUST00000189542]
|
| 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 |
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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000188303
|
| 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 |
|---|
| Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
| Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
| Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
|
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 |
|
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'- ACTTCAGAACCCCGAAGTCG -3'
(R):5'- ATAGGTAAGTGAGGTCCGCAGC -3'
Sequencing Primer
(F):5'- CGAAGTCGGCCAAACCC -3'
(R):5'- CCACACCCTCGAGAGCTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation