Incidental Mutation 'R5799:Nubp2'
| ID |
447427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nubp2
|
| Ensembl Gene |
ENSMUSG00000039183 |
| Gene Name |
nucleotide binding protein 2 |
| Synonyms |
D17Wsu11e |
| MMRRC Submission |
043388-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5799 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25101585-25105323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25104772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 23
(V23A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024976]
[ENSMUST00000044252]
[ENSMUST00000050714]
[ENSMUST00000068508]
[ENSMUST00000117890]
[ENSMUST00000119829]
[ENSMUST00000119848]
[ENSMUST00000144430]
[ENSMUST00000120943]
[ENSMUST00000130194]
[ENSMUST00000168265]
|
| 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: V23A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183
AA Change: V23A
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.6783 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
89% (51/57) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,668,908 (GRCm39) |
Q92* |
probably null |
Het |
| Accsl |
T |
C |
2: 93,694,748 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
T |
C |
12: 112,745,365 (GRCm39) |
|
probably benign |
Het |
| Alcam |
T |
C |
16: 52,130,212 (GRCm39) |
D46G |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,247 (GRCm39) |
S57P |
probably damaging |
Het |
| Atg14 |
A |
T |
14: 47,784,752 (GRCm39) |
V314D |
possibly damaging |
Het |
| C230029F24Rik |
C |
T |
1: 49,377,307 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
A |
T |
6: 3,707,592 (GRCm39) |
I236N |
probably benign |
Het |
| Cass4 |
G |
A |
2: 172,258,107 (GRCm39) |
G35E |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,517 (GRCm39) |
I120T |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,684,919 (GRCm39) |
|
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,004,631 (GRCm39) |
M1K |
probably null |
Het |
| Ddhd2 |
T |
A |
8: 26,238,629 (GRCm39) |
L328F |
probably damaging |
Het |
| Defa40 |
T |
A |
8: 21,740,359 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
A |
G |
10: 77,887,860 (GRCm39) |
D123G |
possibly damaging |
Het |
| Eea1 |
T |
A |
10: 95,838,810 (GRCm39) |
V287E |
possibly damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,164 (GRCm39) |
N97S |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,369,262 (GRCm39) |
S118P |
probably benign |
Het |
| Ext2 |
G |
T |
2: 93,642,317 (GRCm39) |
T184K |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,864,705 (GRCm39) |
Q42* |
probably null |
Het |
| Gbp2 |
A |
T |
3: 142,337,843 (GRCm39) |
I320L |
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| H2-Q5 |
T |
C |
17: 35,613,115 (GRCm39) |
M5T |
unknown |
Het |
| Jak3 |
C |
T |
8: 72,131,344 (GRCm39) |
L70F |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,307,364 (GRCm39) |
V254M |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,030,184 (GRCm39) |
V387E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,755,093 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Narf |
T |
C |
11: 121,135,480 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,135,177 (GRCm39) |
K78R |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,330,601 (GRCm39) |
C1118* |
probably null |
Het |
| Or4l1 |
A |
T |
14: 50,166,497 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or8g55 |
T |
C |
9: 39,785,392 (GRCm39) |
S274P |
possibly damaging |
Het |
| Pdzd7 |
G |
A |
19: 45,025,428 (GRCm39) |
P356S |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,056,070 (GRCm39) |
V984A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,516,925 (GRCm39) |
S3334P |
probably damaging |
Het |
| Senp7 |
G |
A |
16: 55,959,468 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
A |
C |
10: 90,957,903 (GRCm39) |
Y50D |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,592,970 (GRCm39) |
S163T |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,610,922 (GRCm39) |
C4* |
probably null |
Het |
| Taf1a |
A |
G |
1: 183,177,272 (GRCm39) |
D50G |
possibly damaging |
Het |
| Taf6l |
A |
T |
19: 8,759,995 (GRCm39) |
Y106N |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,674 (GRCm39) |
E284G |
probably damaging |
Het |
| Tbx20 |
G |
A |
9: 24,636,816 (GRCm39) |
Q424* |
probably null |
Het |
| Tex10 |
A |
G |
4: 48,433,295 (GRCm39) |
V829A |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,257,474 (GRCm39) |
|
probably benign |
Het |
| Tnfsf10 |
G |
T |
3: 27,389,742 (GRCm39) |
V268F |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,767,755 (GRCm39) |
T2571A |
probably benign |
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 |
|
|
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'- CAGGTCCACATCTAGGATTCCC -3'
(R):5'- GCAGTTTGAAGTGAGCGTTC -3'
Sequencing Primer
(F):5'- TAGGATTCCCACCTGCAAGGAG -3'
(R):5'- TGAGCGTTCACGTGTGCAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation