Incidental Mutation 'IGL00584:Ndufb11'
ID |
12318 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ndufb11
|
Ensembl Gene |
ENSMUSG00000031059 |
Gene Name |
NADH:ubiquinone oxidoreductase subunit B11 |
Synonyms |
D5Bwg0577e, Np15, D5Bwg0566e |
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
IGL00584
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
20481565-20483858 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20483339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 54
(Q54L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064911]
[ENSMUST00000082089]
[ENSMUST00000084383]
[ENSMUST00000115374]
[ENSMUST00000115375]
[ENSMUST00000116621]
[ENSMUST00000177738]
|
AlphaFold |
O09111 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064911
|
SMART Domains |
Protein: ENSMUSP00000068188 Gene: ENSMUSG00000031060
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
RRM
|
130 |
205 |
1.99e-9 |
SMART |
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
RRM
|
301 |
380 |
4.75e-7 |
SMART |
low complexity region
|
397 |
419 |
N/A |
INTRINSIC |
low complexity region
|
540 |
562 |
N/A |
INTRINSIC |
low complexity region
|
593 |
605 |
N/A |
INTRINSIC |
low complexity region
|
629 |
648 |
N/A |
INTRINSIC |
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
ZnF_C2H2
|
759 |
784 |
7.55e-1 |
SMART |
coiled coil region
|
785 |
818 |
N/A |
INTRINSIC |
G_patch
|
856 |
902 |
8.39e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082089
|
SMART Domains |
Protein: ENSMUSP00000080738 Gene: ENSMUSG00000031060
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
RRM
|
60 |
128 |
9.2e-2 |
SMART |
ZnF_RBZ
|
138 |
162 |
1.2e-8 |
SMART |
RRM
|
224 |
303 |
4.75e-7 |
SMART |
low complexity region
|
320 |
342 |
N/A |
INTRINSIC |
low complexity region
|
463 |
485 |
N/A |
INTRINSIC |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
low complexity region
|
552 |
571 |
N/A |
INTRINSIC |
low complexity region
|
662 |
674 |
N/A |
INTRINSIC |
ZnF_C2H2
|
682 |
707 |
7.55e-1 |
SMART |
coiled coil region
|
708 |
741 |
N/A |
INTRINSIC |
G_patch
|
779 |
825 |
8.39e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084383
|
SMART Domains |
Protein: ENSMUSP00000111031 Gene: ENSMUSG00000031060
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
RRM
|
60 |
128 |
9.2e-2 |
SMART |
ZnF_RBZ
|
138 |
162 |
1.2e-8 |
SMART |
RRM
|
224 |
303 |
4.75e-7 |
SMART |
low complexity region
|
320 |
342 |
N/A |
INTRINSIC |
low complexity region
|
463 |
485 |
N/A |
INTRINSIC |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
low complexity region
|
552 |
571 |
N/A |
INTRINSIC |
low complexity region
|
662 |
674 |
N/A |
INTRINSIC |
ZnF_C2H2
|
682 |
707 |
7.55e-1 |
SMART |
coiled coil region
|
708 |
741 |
N/A |
INTRINSIC |
G_patch
|
779 |
825 |
8.39e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115374
|
SMART Domains |
Protein: ENSMUSP00000111032 Gene: ENSMUSG00000031060
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
RRM
|
130 |
205 |
1.99e-9 |
SMART |
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
RRM
|
301 |
380 |
4.75e-7 |
SMART |
low complexity region
|
397 |
419 |
N/A |
INTRINSIC |
low complexity region
|
540 |
562 |
N/A |
INTRINSIC |
low complexity region
|
593 |
605 |
N/A |
INTRINSIC |
low complexity region
|
629 |
648 |
N/A |
INTRINSIC |
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
ZnF_C2H2
|
759 |
784 |
7.55e-1 |
SMART |
coiled coil region
|
785 |
818 |
N/A |
INTRINSIC |
G_patch
|
856 |
902 |
8.39e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115375
|
SMART Domains |
Protein: ENSMUSP00000111033 Gene: ENSMUSG00000031060
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
RRM
|
130 |
205 |
1.99e-9 |
SMART |
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
RRM
|
301 |
379 |
2.69e-6 |
SMART |
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
low complexity region
|
628 |
647 |
N/A |
INTRINSIC |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
ZnF_C2H2
|
758 |
783 |
7.55e-1 |
SMART |
coiled coil region
|
784 |
817 |
N/A |
INTRINSIC |
G_patch
|
855 |
901 |
8.39e-20 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000116621
AA Change: Q54L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112320 Gene: ENSMUSG00000031059 AA Change: Q54L
Domain | Start | End | E-Value | Type |
Pfam:ESSS
|
22 |
131 |
3.1e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141128
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177738
|
SMART Domains |
Protein: ENSMUSP00000136209 Gene: ENSMUSG00000031060
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
RRM
|
130 |
205 |
1.99e-9 |
SMART |
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
RRM
|
301 |
379 |
2.69e-6 |
SMART |
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
low complexity region
|
628 |
647 |
N/A |
INTRINSIC |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
ZnF_C2H2
|
758 |
783 |
7.55e-1 |
SMART |
coiled coil region
|
784 |
817 |
N/A |
INTRINSIC |
G_patch
|
855 |
901 |
8.39e-20 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cep162 |
T |
C |
9: 87,103,143 (GRCm39) |
|
probably benign |
Het |
Ces4a |
G |
T |
8: 105,871,795 (GRCm39) |
M288I |
probably benign |
Het |
Dusp19 |
G |
A |
2: 80,461,126 (GRCm39) |
|
probably null |
Het |
Eif4g1 |
C |
A |
16: 20,505,504 (GRCm39) |
|
probably benign |
Het |
Farp1 |
T |
G |
14: 121,474,561 (GRCm39) |
I258S |
probably damaging |
Het |
Galnt18 |
T |
A |
7: 111,071,202 (GRCm39) |
Q589L |
probably damaging |
Het |
Gimap7 |
T |
A |
6: 48,700,667 (GRCm39) |
C84* |
probably null |
Het |
Il12rb2 |
T |
C |
6: 67,334,676 (GRCm39) |
T168A |
probably damaging |
Het |
Krba1 |
T |
C |
6: 48,383,252 (GRCm39) |
L216S |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,297,424 (GRCm39) |
K2537E |
probably damaging |
Het |
Myo6 |
G |
T |
9: 80,149,555 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
A |
3: 55,989,869 (GRCm39) |
N329I |
probably damaging |
Het |
Nudt1 |
T |
C |
5: 140,323,465 (GRCm39) |
F139S |
probably damaging |
Het |
Rgn |
A |
T |
X: 20,423,756 (GRCm39) |
M118L |
probably benign |
Het |
Syt12 |
C |
T |
19: 4,497,873 (GRCm39) |
V370M |
probably damaging |
Het |
Syt14 |
A |
T |
1: 192,612,792 (GRCm39) |
N669K |
possibly damaging |
Het |
|
Posted On |
2012-12-06 |