Incidental Mutation 'R1329:Nubp2'
| ID |
156129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nubp2
|
| Ensembl Gene |
ENSMUSG00000039183 |
| Gene Name |
nucleotide binding protein 2 |
| Synonyms |
D17Wsu11e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1329 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25101585-25105323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25102838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 208
(N208K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000050714]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000130194]
[ENSMUST00000120943]
[ENSMUST00000168265]
[ENSMUST00000144430]
|
| AlphaFold |
Q9R061 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024976
|
| SMART Domains |
Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
181 |
304 |
5.7e-18 |
PFAM |
|
SOCS_box
|
309 |
347 |
2.8e0 |
SMART |
|
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044252
AA Change: N208K
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
AA Change: N208K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ParA
|
16 |
267 |
3.2e-99 |
PFAM |
|
Pfam:ArsA_ATPase
|
19 |
66 |
1.7e-8 |
PFAM |
|
Pfam:AAA_31
|
19 |
79 |
1.5e-8 |
PFAM |
|
Pfam:MipZ
|
19 |
155 |
2.1e-10 |
PFAM |
|
Pfam:CbiA
|
21 |
199 |
2.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050714
|
| SMART Domains |
Protein: ENSMUSP00000060169
Gene: ENSMUSG00000046070
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LRRNT
|
40 |
78 |
9.37e-10 |
SMART |
|
LRR
|
77 |
96 |
1.62e1 |
SMART |
|
LRR
|
97 |
120 |
1.41e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
6.78e-3 |
SMART |
|
LRR
|
145 |
168 |
1.03e1 |
SMART |
|
LRR_TYP
|
169 |
192 |
1.1e-2 |
SMART |
|
LRR
|
193 |
216 |
2.17e-1 |
SMART |
|
LRR_TYP
|
217 |
240 |
2.4e-3 |
SMART |
|
LRR_TYP
|
241 |
264 |
1.82e-3 |
SMART |
|
LRR
|
265 |
288 |
5.72e-1 |
SMART |
|
LRR_TYP
|
289 |
312 |
6.23e-2 |
SMART |
|
LRR_TYP
|
313 |
336 |
6.32e-3 |
SMART |
|
LRR_TYP
|
337 |
360 |
2.2e-2 |
SMART |
|
LRR
|
361 |
384 |
1.89e-1 |
SMART |
|
LRR
|
385 |
408 |
3.87e1 |
SMART |
|
LRR
|
409 |
432 |
2.67e-1 |
SMART |
|
LRR_TYP
|
433 |
456 |
1.06e-4 |
SMART |
|
LRR_TYP
|
457 |
480 |
6.78e-3 |
SMART |
|
LRR
|
481 |
504 |
1.09e2 |
SMART |
|
LRR
|
505 |
530 |
2.68e1 |
SMART |
|
LRRCT
|
535 |
582 |
5.11e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068508
|
| SMART Domains |
Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
252 |
1.3e-13 |
PFAM |
|
low complexity region
|
295 |
308 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117890
|
| SMART Domains |
Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
269 |
1.6e-18 |
PFAM |
|
SOCS_box
|
274 |
312 |
2.8e0 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119829
|
| SMART Domains |
Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
294 |
6.9e-16 |
PFAM |
|
SOCS_box
|
299 |
337 |
2.8e0 |
SMART |
|
low complexity region
|
354 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119848
|
| SMART Domains |
Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ERCC4
|
71 |
320 |
8.51e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130194
|
| SMART Domains |
Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120943
|
| SMART Domains |
Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
146 |
269 |
1.6e-18 |
PFAM |
|
SOCS_box
|
274 |
312 |
2.8e0 |
SMART |
|
low complexity region
|
329 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168265
|
| SMART Domains |
Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
255 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
294 |
416 |
5.8e-20 |
PFAM |
|
SOCS_box
|
420 |
458 |
2.8e0 |
SMART |
|
low complexity region
|
475 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144430
|
| SMART Domains |
Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
T |
4: 152,314,241 (GRCm39) |
Q188* |
probably null |
Het |
| Ano5 |
T |
C |
7: 51,196,533 (GRCm39) |
Y141H |
probably benign |
Het |
| Atg101 |
G |
A |
15: 101,188,171 (GRCm39) |
G92D |
probably null |
Het |
| Brwd1 |
A |
G |
16: 95,804,434 (GRCm39) |
I1912T |
probably benign |
Het |
| Cad |
G |
T |
5: 31,216,926 (GRCm39) |
G263W |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,227 (GRCm39) |
E715G |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,779 (GRCm39) |
|
probably benign |
Het |
| Dbp |
C |
T |
7: 45,357,752 (GRCm39) |
P70S |
probably damaging |
Het |
| Fem1al |
T |
A |
11: 29,773,553 (GRCm39) |
N635Y |
probably benign |
Het |
| Gpr61 |
T |
A |
3: 108,057,830 (GRCm39) |
H277L |
probably benign |
Het |
| Gsdma3 |
G |
T |
11: 98,523,218 (GRCm39) |
V203F |
probably damaging |
Het |
| Ifih1 |
G |
C |
2: 62,447,831 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,246,020 (GRCm39) |
C404S |
possibly damaging |
Het |
| Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
G |
8: 108,095,659 (GRCm39) |
M1300R |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,325,943 (GRCm39) |
P1129S |
possibly damaging |
Het |
| Or8g20 |
A |
G |
9: 39,395,740 (GRCm39) |
S270P |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,384,653 (GRCm39) |
D488G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,569,833 (GRCm39) |
Y202F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Usp4 |
T |
A |
9: 108,249,765 (GRCm39) |
V431E |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,466,717 (GRCm39) |
I636V |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,162 (GRCm39) |
N358S |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,534,615 (GRCm39) |
N511K |
probably benign |
Het |
| Wdr5 |
T |
A |
2: 27,421,683 (GRCm39) |
F222I |
probably damaging |
Het |
|
| Other mutations in Nubp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02706:Nubp2
|
APN |
17 |
25,102,171 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0238:Nubp2
|
UTSW |
17 |
25,103,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Nubp2
|
UTSW |
17 |
25,103,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Nubp2
|
UTSW |
17 |
25,103,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Nubp2
|
UTSW |
17 |
25,103,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Nubp2
|
UTSW |
17 |
25,103,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Nubp2
|
UTSW |
17 |
25,104,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Nubp2
|
UTSW |
17 |
25,103,430 (GRCm39) |
missense |
probably benign |
|
|
R4860:Nubp2
|
UTSW |
17 |
25,103,430 (GRCm39) |
missense |
probably benign |
|
|
R5799:Nubp2
|
UTSW |
17 |
25,104,772 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6495:Nubp2
|
UTSW |
17 |
25,104,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8400:Nubp2
|
UTSW |
17 |
25,103,439 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9250:Nubp2
|
UTSW |
17 |
25,103,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9396:Nubp2
|
UTSW |
17 |
25,103,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9626:Nubp2
|
UTSW |
17 |
25,103,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9651:Nubp2
|
UTSW |
17 |
25,103,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Nubp2
|
UTSW |
17 |
25,103,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCCCAGAGAAACCTCAGATTG -3'
(R):5'- CACACTGCGCTGTGAGTCTTAGAAG -3'
Sequencing Primer
(F):5'- CCTCAGATTGGGCTCTTATATAGAAG -3'
(R):5'- GAGAAAGTAGGTCTCTTGTCCAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation