Incidental Mutation 'R3851:Nubpl'
| ID |
275934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nubpl
|
| Ensembl Gene |
ENSMUSG00000035142 |
| Gene Name |
nucleotide binding protein-like |
| Synonyms |
2410170E07Rik |
| MMRRC Submission |
040899-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3851 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52144529-52357753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52190810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 65
(M65T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040090]
[ENSMUST00000159567]
|
| AlphaFold |
Q9CWD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040090
AA Change: M117T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: M117T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ParA
|
65 |
311 |
1.6e-101 |
PFAM |
|
Pfam:AAA_31
|
68 |
131 |
2.6e-9 |
PFAM |
|
Pfam:MipZ
|
68 |
217 |
2.8e-9 |
PFAM |
|
Pfam:CbiA
|
70 |
241 |
9.9e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159567
AA Change: M65T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125177
Gene: ENSMUSG00000035142
AA Change: M65T
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2PH1|A
|
12 |
113 |
4e-9 |
PDB |
|
SCOP:d1ihua2
|
31 |
122 |
3e-7 |
SMART |
|
Blast:AAA
|
40 |
115 |
1e-23 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159708
|
| Meta Mutation Damage Score |
0.9014 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,039,372 (GRCm39) |
W544* |
probably null |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
| Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
| Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
| Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
| Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,527,427 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,850,808 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nubpl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Nubpl
|
APN |
12 |
52,352,638 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01415:Nubpl
|
APN |
12 |
52,317,853 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02538:Nubpl
|
APN |
12 |
52,357,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL02644:Nubpl
|
APN |
12 |
52,317,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0060:Nubpl
|
UTSW |
12 |
52,357,470 (GRCm39) |
splice site |
probably benign |
|
|
R0060:Nubpl
|
UTSW |
12 |
52,357,470 (GRCm39) |
splice site |
probably benign |
|
|
R4939:Nubpl
|
UTSW |
12 |
52,227,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5553:Nubpl
|
UTSW |
12 |
52,228,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5691:Nubpl
|
UTSW |
12 |
52,152,059 (GRCm39) |
intron |
probably benign |
|
|
R5886:Nubpl
|
UTSW |
12 |
52,228,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6654:Nubpl
|
UTSW |
12 |
52,357,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6899:Nubpl
|
UTSW |
12 |
52,357,536 (GRCm39) |
missense |
probably benign |
|
|
R7274:Nubpl
|
UTSW |
12 |
52,179,203 (GRCm39) |
intron |
probably benign |
|
|
R7961:Nubpl
|
UTSW |
12 |
52,228,080 (GRCm39) |
nonsense |
probably null |
|
|
R8903:Nubpl
|
UTSW |
12 |
52,144,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9634:Nubpl
|
UTSW |
12 |
52,349,494 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Nubpl
|
UTSW |
12 |
52,145,145 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTATCCCAGGCAATTTATACTTCC -3'
(R):5'- CCTTGCCCACCTGAGTATTAGG -3'
Sequencing Primer
(F):5'- CCAGGCAATTTATACTTCCTGTTTC -3'
(R):5'- CCACCTGAGTATTAGGACCCTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation