Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02644:Nubpl'

301868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nubpl

Ensembl Gene

ENSMUSG00000035142

Gene Name

nucleotide binding protein-like

Synonyms

2410170E07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02644

Quality Score

Status

Chromosome

Chromosomal Location

52144529-52357753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52317841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 178 (D178G)

Ref Sequence

ENSEMBL: ENSMUSP00000044292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040090] [ENSMUST00000159567]

AlphaFold

Q9CWD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000040090
AA Change: D178G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: D178G

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 benign
Transcript: ENSMUST00000159567

SMART Domains

Protein: ENSMUSP00000125177
Gene: ENSMUSG00000035142

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: ENSMUST00000162111

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	T	3: 151,198,007 (GRCm39)	Y89F	probably benign	Het
Agl	A	G	3: 116,580,246 (GRCm39)	Y406H	probably damaging	Het
Ankhd1	G	A	18: 36,711,828 (GRCm39)		probably null	Het
Ankmy1	T	C	1: 92,812,776 (GRCm39)	D511G	probably benign	Het
Arid2	T	C	15: 96,266,589 (GRCm39)	Y546H	probably damaging	Het
Asap1	G	T	15: 63,982,911 (GRCm39)	P806T	probably damaging	Het
Aspa	T	A	11: 73,212,992 (GRCm39)	T117S	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bspry	A	T	4: 62,414,565 (GRCm39)	H386L	probably damaging	Het
C1qc	T	C	4: 136,617,629 (GRCm39)	T156A	possibly damaging	Het
Cfhr4	A	G	1: 139,708,905 (GRCm39)	M1T	probably null	Het
Copz2	A	T	11: 96,744,257 (GRCm39)		probably benign	Het
Cybb	A	G	X: 9,333,395 (GRCm39)	V23A	probably benign	Het
D630003M21Rik	T	A	2: 158,058,730 (GRCm39)	D390V	possibly damaging	Het
Dennd10	T	A	19: 60,810,741 (GRCm39)	S43T	possibly damaging	Het
Dpy19l2	G	T	9: 24,569,888 (GRCm39)	P355Q	probably damaging	Het
Gcn1	A	T	5: 115,713,250 (GRCm39)	Q71L	probably benign	Het
Gpd1l	T	C	9: 114,732,725 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,265,100 (GRCm39)	D2761G	probably damaging	Het
Ifi202b	T	A	1: 173,799,280 (GRCm39)	H256L	probably benign	Het
Igkv8-24	T	C	6: 70,193,872 (GRCm39)	Y112C	probably damaging	Het
Lama3	G	A	18: 12,658,910 (GRCm39)	R2022Q	probably benign	Het
Mroh4	T	A	15: 74,482,224 (GRCm39)	R675S	possibly damaging	Het
Mtf1	T	G	4: 124,714,028 (GRCm39)	C146G	probably damaging	Het
Or7e165	A	C	9: 19,695,010 (GRCm39)	I194L	probably benign	Het
Pam16	A	G	16: 4,434,697 (GRCm39)	S91P	probably damaging	Het
Pcdhac2	A	G	18: 37,278,232 (GRCm39)	E404G	probably benign	Het
Pde7a	C	A	3: 19,311,031 (GRCm39)		probably benign	Het
Perm1	G	T	4: 156,303,043 (GRCm39)	G529V	probably damaging	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Ppfibp1	A	G	6: 146,923,938 (GRCm39)	Y722C	probably damaging	Het
Ppm1m	A	T	9: 106,074,082 (GRCm39)	I241N	probably damaging	Het
Psd	T	C	19: 46,311,834 (GRCm39)	Y282C	probably damaging	Het
Rpl27	T	A	11: 101,336,317 (GRCm39)		probably benign	Het
Scaf1	A	G	7: 44,655,357 (GRCm39)		probably benign	Het
Sec14l2	A	T	11: 4,053,380 (GRCm39)		probably benign	Het
Smchd1	T	A	17: 71,667,016 (GRCm39)		probably benign	Het
Sptb	A	T	12: 76,652,391 (GRCm39)	D1615E	probably damaging	Het
Stt3a	A	C	9: 36,663,649 (GRCm39)	C198G	possibly damaging	Het
Tas2r144	T	C	6: 42,192,787 (GRCm39)	S176P	possibly damaging	Het
Tlr13	A	G	X: 105,200,503 (GRCm39)	D80G	probably benign	Het
Tmco4	A	G	4: 138,737,920 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,771,109 (GRCm39)	C132S	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,733 (GRCm39)	D406G	probably damaging	Het
Vmn2r125	G	A	4: 156,703,294 (GRCm39)	R224Q	probably benign	Het
Zfp524	C	A	7: 5,020,479 (GRCm39)	D2E	probably damaging	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
R0060:Nubpl	UTSW	12	52,357,470 (GRCm39)	splice site	probably benign
R0060:Nubpl	UTSW	12	52,357,470 (GRCm39)	splice site	probably benign
R3851:Nubpl	UTSW	12	52,190,810 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16