Mutagenetix > Incidental Mutation

Incidental Mutation 'R7961:Nubpl'

650129

Institutional Source

Beutler Lab

Gene Symbol

Nubpl

Ensembl Gene

ENSMUSG00000035142

Gene Name

nucleotide binding protein-like

Synonyms

2410170E07Rik

MMRRC Submission

046005-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52144529-52357753 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 52228080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 168 (L168*)

Ref Sequence

ENSEMBL: ENSMUSP00000044292 (fasta)

Gene Model

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

AlphaFold

Q9CWD8

Predicted Effect

probably null
Transcript: ENSMUST00000040090
AA Change: L168*

SMART Domains

Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: L168*

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 null
Transcript: ENSMUST00000159567
AA Change: L116*

SMART Domains

Protein: ENSMUSP00000125177
Gene: ENSMUSG00000035142
AA Change: L116*

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

Meta Mutation Damage Score

0.9706

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,330,903 (GRCm39)	R288W	probably damaging	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,069,121 (GRCm39)	A192T	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Engase	A	G	11: 118,377,686 (GRCm39)	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,609,883 (GRCm39)	H374Y	probably damaging	Het
Icam5	T	C	9: 20,950,051 (GRCm39)	V870A	possibly damaging	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krt71	T	C	15: 101,643,877 (GRCm39)	I454V	probably damaging	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Mia2	T	A	12: 59,206,425 (GRCm39)		probably null	Het
Neurod4	A	T	10: 130,106,356 (GRCm39)	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,510,628 (GRCm39)		probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or4c35	A	G	2: 89,808,131 (GRCm39)	Q3R	probably benign	Het
Or4k48	G	A	2: 111,476,282 (GRCm39)	S20F	probably damaging	Het
Or5d41	C	A	2: 88,055,033 (GRCm39)	M114I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Polm	T	C	11: 5,780,155 (GRCm39)	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Pramel34	T	C	5: 93,784,543 (GRCm39)	D307G	probably damaging	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,430,510 (GRCm39)	T292A	probably damaging	Het
Smad3	G	A	9: 63,557,564 (GRCm39)	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Usp25	A	G	16: 76,856,150 (GRCm39)	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	Het
Zfp60	G	A	7: 27,447,881 (GRCm39)	G183D	probably benign	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
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
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'- CCTAATGAGGCCTCTTTTGAATTATGG -3'
(R):5'- TGTTACACTAAGATGCAACAGGAAG -3'

Sequencing Primer
(F):5'- AGGCCTCTTTTGAATTATGGTATTGC -3'
(R):5'- CAGGAAGACTAAGTTGGTGTAATTTG -3'

Posted On

2020-09-15