Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01329:Nubpl'

74410

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 #

IGL01329

Quality Score

Status

Chromosome

Chromosomal Location

52144529-52357753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52352638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 291 (V291A)

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: V291A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: V291A

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,944,166 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,784,194 (GRCm39)		probably benign	Het
Birc2	T	C	9: 7,860,733 (GRCm39)	Y195C	probably damaging	Het
Cand2	T	C	6: 115,759,755 (GRCm39)	I142T	probably benign	Het
Cdh15	T	C	8: 123,592,062 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,479,534 (GRCm39)	G217D	probably damaging	Het
Cfap54	T	A	10: 92,917,385 (GRCm39)	H25L	unknown	Het
Cfap95	A	G	19: 23,630,100 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,778,889 (GRCm39)	V266A	probably benign	Het
D3Ertd751e	A	G	3: 41,703,132 (GRCm39)	D69G	probably benign	Het
Dnah3	T	C	7: 119,622,164 (GRCm39)	I1518V	probably damaging	Het
Entpd8	A	G	2: 24,974,358 (GRCm39)	K381R	probably benign	Het
Fli1	T	A	9: 32,335,397 (GRCm39)	K345I	probably damaging	Het
G6pd2	T	C	5: 61,967,281 (GRCm39)	V352A	probably damaging	Het
Gbp11	C	T	5: 105,475,482 (GRCm39)		probably null	Het
Gm11992	A	G	11: 9,018,383 (GRCm39)	*292W	probably null	Het
Ifnar2	T	A	16: 91,188,599 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,230,111 (GRCm39)	K661R	probably benign	Het
Inf2	G	T	12: 112,578,290 (GRCm39)	E651*	probably null	Het
Ints1	A	G	5: 139,753,258 (GRCm39)		probably benign	Het
Iqcf4	T	C	9: 106,447,832 (GRCm39)	K26E	probably benign	Het
Map4k3	A	G	17: 80,951,613 (GRCm39)	V289A	probably benign	Het
Mis18bp1	T	C	12: 65,205,215 (GRCm39)	K319R	possibly damaging	Het
Or4f56	A	G	2: 111,703,295 (GRCm39)	F302L	probably benign	Het
Or4k15c	C	T	14: 50,321,454 (GRCm39)	R228H	probably benign	Het
Or8b57	A	G	9: 40,003,324 (GRCm39)	S313P	possibly damaging	Het
Or8k38	T	C	2: 86,488,551 (GRCm39)	N84D	probably benign	Het
Otof	A	G	5: 30,598,723 (GRCm39)	S29P	probably benign	Het
Pcca	A	G	14: 122,927,545 (GRCm39)	D436G	possibly damaging	Het
Rasef	T	A	4: 73,645,882 (GRCm39)	T496S	probably damaging	Het
Saa2	A	G	7: 46,402,896 (GRCm39)	D49G	probably benign	Het
Scart1	T	A	7: 139,804,552 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,547,852 (GRCm39)	I1015V	probably benign	Het
Sim2	T	C	16: 93,907,119 (GRCm39)	Y154H	possibly damaging	Het
Spag17	A	G	3: 100,002,865 (GRCm39)	H1863R	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Svil	A	G	18: 5,064,501 (GRCm39)	E1111G	probably benign	Het
Trabd2b	T	C	4: 114,266,322 (GRCm39)	V112A	probably damaging	Het
Vmn1r205	T	C	13: 22,776,273 (GRCm39)	I276M	probably benign	Het
Vps13d	A	T	4: 144,882,776 (GRCm39)	I939N	possibly damaging	Het
Zc3h11a	T	C	1: 133,553,600 (GRCm39)	M515V	probably benign	Het
Zfp457	T	C	13: 67,442,330 (GRCm39)	T82A	possibly damaging	Het

Other mutations in Nubpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07