Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Nubpl'

201411

Institutional Source

Beutler Lab

Gene Symbol

Nubpl

Ensembl Gene

ENSMUSG00000035142

Gene Name

nucleotide binding protein-like

Synonyms

2410170E07Rik

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

52144529-52357753 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 52357470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044292 (fasta)

Gene Model

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

AlphaFold

Q9CWD8

Predicted Effect

probably benign
Transcript: ENSMUST00000040090

SMART Domains

Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.0%

Validation Efficiency

98% (60/61)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Cabcoco1	A	T	10: 68,369,692 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Cst11	T	A	2: 148,612,322 (GRCm39)	Q105L	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Pard3b	G	A	1: 61,678,474 (GRCm39)	E25K	probably damaging	Het
Phactr1	T	A	13: 42,836,197 (GRCm39)	Y8*	probably null	Het
Phf14	T	C	6: 11,953,316 (GRCm39)	S352P	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prap1	G	T	7: 139,673,390 (GRCm39)		probably benign	Het
Prdm8	T	A	5: 98,333,119 (GRCm39)	F229I	probably benign	Het
Rfx6	T	C	10: 51,553,936 (GRCm39)	F11L	probably benign	Het
Rfx8	T	A	1: 39,757,565 (GRCm39)		probably benign	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Ripk4	G	A	16: 97,564,718 (GRCm39)		probably benign	Het
Satb1	T	A	17: 52,047,231 (GRCm39)	I695F	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tcerg1	C	T	18: 42,657,073 (GRCm39)	A185V	unknown	Het
Tep1	T	A	14: 51,103,486 (GRCm39)	D268V	probably damaging	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCGCCTTCTAAGCACTTACCC -3'
(R):5'- GGACGATAGCATCACGAAGTCACAG -3'

Sequencing Primer
(F):5'- AGCACTTACCCTTAAATAGTGAGAG -3'
(R):5'- CGAAGTCACAGTTTCTCAAGAG -3'

Posted On

2014-06-06