Incidental Mutation 'IGL00942:Ndufb10'
| ID |
29293 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ndufb10
|
| Ensembl Gene |
ENSMUSG00000040048 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit B10 |
| Synonyms |
0610011B04Rik, 22kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24941034-24943397 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 24943158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045602]
[ENSMUST00000054289]
[ENSMUST00000135708]
[ENSMUST00000170715]
[ENSMUST00000146867]
[ENSMUST00000152407]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
| AlphaFold |
Q9DCS9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045602
|
| SMART Domains |
Protein: ENSMUSP00000043543
Gene: ENSMUSG00000040048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Pfam:NDUFB10
|
42 |
168 |
2.1e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054289
|
| SMART Domains |
Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
5.7e-34 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
2.4e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129984
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135708
|
| SMART Domains |
Protein: ENSMUSP00000120091
Gene: ENSMUSG00000040048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Pfam:NDUFB10
|
54 |
149 |
7.1e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170715
|
| SMART Domains |
Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
101 |
167 |
1.1e-31 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
184 |
257 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146867
|
| SMART Domains |
Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
1.7e-35 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
8.3e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152407
|
| SMART Domains |
Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
101 |
167 |
9.2e-32 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
184 |
257 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170239
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
375 |
1.2e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183214
|
| SMART Domains |
Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
133 |
1.1e-43 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
| Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
| Other mutations in Ndufb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0157:Ndufb10
|
UTSW |
17 |
24,943,218 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0189:Ndufb10
|
UTSW |
17 |
24,943,209 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0834:Ndufb10
|
UTSW |
17 |
24,941,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Ndufb10
|
UTSW |
17 |
24,941,757 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2015:Ndufb10
|
UTSW |
17 |
24,941,503 (GRCm39) |
splice site |
probably null |
|
|
R4687:Ndufb10
|
UTSW |
17 |
24,941,393 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4995:Ndufb10
|
UTSW |
17 |
24,941,731 (GRCm39) |
splice site |
probably null |
|
|
R5629:Ndufb10
|
UTSW |
17 |
24,941,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Ndufb10
|
UTSW |
17 |
24,941,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8175:Ndufb10
|
UTSW |
17 |
24,943,166 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9087:Ndufb10
|
UTSW |
17 |
24,943,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9771:Ndufb10
|
UTSW |
17 |
24,943,158 (GRCm39) |
splice site |
probably null |
|
|
X0024:Ndufb10
|
UTSW |
17 |
24,941,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ndufb10
|
UTSW |
17 |
24,941,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation