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 question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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