Incidental Mutation 'R6495:Nubp2'
ID |
520477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nubp2
|
Ensembl Gene |
ENSMUSG00000039183 |
Gene Name |
nucleotide binding protein 2 |
Synonyms |
D17Wsu11e |
MMRRC Submission |
044627-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6495 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25101585-25105323 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25104577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 54
(D54E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000050714]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000120943]
[ENSMUST00000130194]
[ENSMUST00000168265]
[ENSMUST00000144430]
[ENSMUST00000119848]
|
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 |
probably damaging
Transcript: ENSMUST00000044252
AA Change: D54E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049319 Gene: ENSMUSG00000039183 AA Change: D54E
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: 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: 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: 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 |
|
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
|
Meta Mutation Damage Score |
0.9474 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
T |
A |
12: 112,740,148 (GRCm39) |
E502V |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,743,132 (GRCm39) |
Y321* |
probably null |
Het |
Apob |
A |
G |
12: 8,040,394 (GRCm39) |
K577R |
probably null |
Het |
Arfgef3 |
A |
G |
10: 18,486,950 (GRCm39) |
|
probably null |
Het |
Asap3 |
T |
A |
4: 135,955,790 (GRCm39) |
|
probably null |
Het |
Atp13a5 |
C |
T |
16: 29,140,440 (GRCm39) |
|
probably null |
Het |
Bcan |
C |
A |
3: 87,903,904 (GRCm39) |
A194S |
possibly damaging |
Het |
Cacybp |
T |
C |
1: 160,036,093 (GRCm39) |
T32A |
probably benign |
Het |
Cd82 |
A |
G |
2: 93,260,357 (GRCm39) |
V90A |
probably benign |
Het |
Chd5 |
C |
T |
4: 152,451,829 (GRCm39) |
R714C |
probably damaging |
Het |
Cpb2 |
T |
C |
14: 75,512,519 (GRCm39) |
Y311H |
probably damaging |
Het |
Cyp39a1 |
T |
C |
17: 44,002,585 (GRCm39) |
Y267H |
probably benign |
Het |
Dnajc6 |
C |
T |
4: 101,492,262 (GRCm39) |
Q766* |
probably null |
Het |
Dusp3 |
T |
C |
11: 101,872,653 (GRCm39) |
I48V |
probably benign |
Het |
Eif3c |
A |
T |
7: 126,146,672 (GRCm39) |
F809I |
probably damaging |
Het |
Exosc10 |
C |
T |
4: 148,647,329 (GRCm39) |
P213S |
probably benign |
Het |
Galns |
C |
T |
8: 123,327,349 (GRCm39) |
G141D |
probably damaging |
Het |
Gm3233 |
A |
T |
10: 77,594,886 (GRCm39) |
|
probably benign |
Het |
Hadha |
A |
T |
5: 30,325,048 (GRCm39) |
L714H |
probably benign |
Het |
Map3k20 |
T |
C |
2: 72,198,763 (GRCm39) |
M123T |
probably damaging |
Het |
Nt5dc1 |
A |
G |
10: 34,200,365 (GRCm39) |
L217P |
probably damaging |
Het |
Onecut1 |
C |
T |
9: 74,770,497 (GRCm39) |
R307C |
probably damaging |
Het |
Or5b116 |
T |
A |
19: 13,422,989 (GRCm39) |
D204E |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
Pkd2 |
T |
A |
5: 104,637,159 (GRCm39) |
C591S |
probably damaging |
Het |
Pramel15 |
T |
C |
4: 144,103,409 (GRCm39) |
N239S |
probably benign |
Het |
Pwp2 |
A |
T |
10: 78,012,961 (GRCm39) |
V549E |
probably damaging |
Het |
Rapsn |
A |
T |
2: 90,866,973 (GRCm39) |
S92C |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,257,745 (GRCm39) |
S90G |
probably damaging |
Het |
Rfc1 |
G |
A |
5: 65,431,158 (GRCm39) |
|
probably null |
Het |
Rims2 |
T |
A |
15: 39,381,208 (GRCm39) |
F1046L |
probably benign |
Het |
S100a16 |
C |
T |
3: 90,449,735 (GRCm39) |
R73C |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,089,928 (GRCm39) |
Y893H |
possibly damaging |
Het |
Stt3b |
T |
A |
9: 115,096,388 (GRCm39) |
Y253F |
possibly damaging |
Het |
Taar8b |
A |
G |
10: 23,967,160 (GRCm39) |
*345Q |
probably null |
Het |
Tas2r119 |
G |
A |
15: 32,177,676 (GRCm39) |
V81I |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,128 (GRCm39) |
I22V |
probably benign |
Het |
Tbc1d19 |
T |
G |
5: 54,046,555 (GRCm39) |
|
probably null |
Het |
Tnip3 |
A |
T |
6: 65,582,846 (GRCm39) |
I218F |
probably benign |
Het |
Tnks |
A |
T |
8: 35,307,120 (GRCm39) |
|
probably null |
Het |
Ttc29 |
T |
C |
8: 79,008,963 (GRCm39) |
Y278H |
possibly damaging |
Het |
Tut7 |
T |
C |
13: 59,947,753 (GRCm39) |
E454G |
possibly damaging |
Het |
Uba7 |
T |
A |
9: 107,854,213 (GRCm39) |
C214* |
probably null |
Het |
Vmn2r115 |
A |
T |
17: 23,578,572 (GRCm39) |
I682F |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,813,287 (GRCm39) |
M505K |
probably benign |
Het |
Wdr19 |
A |
T |
5: 65,415,466 (GRCm39) |
T1313S |
probably benign |
Het |
Zbtb22 |
A |
G |
17: 34,136,224 (GRCm39) |
D123G |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,813,395 (GRCm39) |
I138T |
probably benign |
Het |
Zfp706 |
T |
C |
15: 37,004,045 (GRCm39) |
K7R |
unknown |
Het |
Zkscan3 |
G |
A |
13: 21,572,075 (GRCm39) |
P519L |
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 |
R1329:Nubp2
|
UTSW |
17 |
25,102,838 (GRCm39) |
missense |
possibly damaging |
0.91 |
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 |
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'- ACCATGTTTCTTGGGACCTC -3'
(R):5'- GTGCGACACATCATCCTTGTTC -3'
Sequencing Primer
(F):5'- TGGGACCTCTCCACACC -3'
(R):5'- ATCATCCTTGTTCTTTCTGGAAAGG -3'
|
Posted On |
2018-06-06 |