Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Nubpl'

456111

Institutional Source

Beutler Lab

Gene Symbol

Nubpl

Ensembl Gene

ENSMUSG00000035142

Gene Name

nucleotide binding protein-like

Synonyms

2410170E07Rik

MMRRC Submission

044088-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5886 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52144529-52357753 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 52228092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044292 (fasta)

Gene Model

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

AlphaFold

Q9CWD8

Predicted Effect

probably null
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

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

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Adam26b	T	C	8: 43,973,310 (GRCm39)	E564G	possibly damaging	Het
Akap1	A	G	11: 88,725,486 (GRCm39)		probably null	Het
Akap5	T	A	12: 76,374,619 (GRCm39)	V10E	possibly damaging	Het
Atad2	A	T	15: 57,961,910 (GRCm39)	L887*	probably null	Het
Brd10	T	C	19: 29,696,677 (GRCm39)	I939V	probably benign	Het
C1qbp	A	G	11: 70,873,008 (GRCm39)	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,772,998 (GRCm39)	G92D	probably damaging	Het
Cacna1a	T	C	8: 85,249,651 (GRCm39)	I219T	probably damaging	Het
Capn12	A	G	7: 28,587,030 (GRCm39)	N333S	probably benign	Het
Ccdc154	C	T	17: 25,390,792 (GRCm39)	T644I	probably benign	Het
Cd200r1	T	C	16: 44,610,566 (GRCm39)	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,499,402 (GRCm39)		probably null	Het
Coq4	A	T	2: 29,680,626 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,324,834 (GRCm39)		probably benign	Het
Cyp4f17	A	T	17: 32,743,013 (GRCm39)	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,986,819 (GRCm39)	A200E	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,134,291 (GRCm39)	S276T	possibly damaging	Het
Efcab15	A	G	11: 103,098,947 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,582 (GRCm39)	I351M	probably benign	Het
Fat1	G	A	8: 45,480,718 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,486,432 (GRCm39)	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm973	T	A	1: 59,597,409 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,799,375 (GRCm39)	L124Q	probably damaging	Het
Hars2	T	A	18: 36,923,150 (GRCm39)		probably benign	Het
Hcrt	G	A	11: 100,652,759 (GRCm39)	A85V	probably damaging	Het
Hivep1	A	G	13: 42,310,088 (GRCm39)	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,796,691 (GRCm39)	S200T	probably damaging	Het
Krt40	C	T	11: 99,430,907 (GRCm39)	A201T	probably benign	Het
Lca5	G	A	9: 83,281,734 (GRCm39)	A350V	probably benign	Het
Lrig2	T	A	3: 104,370,014 (GRCm39)	M515L	probably benign	Het
Mbd5	A	G	2: 49,162,464 (GRCm39)	D90G	probably damaging	Het
Mfsd4a	C	T	1: 131,995,465 (GRCm39)	V56I	probably damaging	Het
Mpi	A	G	9: 57,455,745 (GRCm39)		probably benign	Het
Mroh4	G	T	15: 74,478,296 (GRCm39)	D935E	possibly damaging	Het
Mtg1	G	T	7: 139,729,778 (GRCm39)		probably null	Het
Nanos1	T	A	19: 60,745,268 (GRCm39)	C189S	probably damaging	Het
Naprt	A	C	15: 75,763,324 (GRCm39)		probably null	Het
Or10ad1b	T	C	15: 98,124,672 (GRCm39)	T285A	possibly damaging	Het
Or10d4	G	T	9: 39,581,252 (GRCm39)	V300L	probably benign	Het
Or8g23	T	A	9: 38,971,678 (GRCm39)	T95S	probably benign	Het
Or9g20	A	G	2: 85,630,147 (GRCm39)	S156P	probably damaging	Het
Otud4	T	A	8: 80,399,436 (GRCm39)	Y717N	probably damaging	Het
Pakap	T	A	4: 57,856,295 (GRCm39)	D582E	probably damaging	Het
Pnpla1	T	C	17: 29,095,837 (GRCm39)	F86S	possibly damaging	Het
Prlhr	C	T	19: 60,456,014 (GRCm39)	W184*	probably null	Het
Rtp3	A	G	9: 110,816,204 (GRCm39)	S116P	probably damaging	Het
Sema3c	T	C	5: 17,886,984 (GRCm39)	I345T	possibly damaging	Het
Skor2	T	C	18: 76,947,124 (GRCm39)	L282P	unknown	Het
Slc24a4	T	C	12: 102,226,674 (GRCm39)	V468A	probably damaging	Het
Slfn8	C	T	11: 82,894,160 (GRCm39)	M826I	probably benign	Het
Tacc2	A	G	7: 130,330,850 (GRCm39)	D378G	probably benign	Het
Thbs3	C	A	3: 89,127,470 (GRCm39)	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,707,948 (GRCm39)		probably benign	Het
Tm7sf2	A	G	19: 6,116,572 (GRCm39)		probably benign	Het
Trappc8	T	C	18: 21,007,737 (GRCm39)	Y126C	probably damaging	Het
Trim35	C	G	14: 66,541,502 (GRCm39)	L209V	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Trip12	C	T	1: 84,708,179 (GRCm39)		probably benign	Het
Trp53bp1	A	G	2: 121,035,502 (GRCm39)	V1583A	probably damaging	Het
Tuba5-ps	A	G	1: 134,447,937 (GRCm39)		noncoding transcript	Het
Tubgcp6	A	T	15: 88,987,450 (GRCm39)	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,611,910 (GRCm39)	D969N	probably benign	Het
Vldlr	C	A	19: 27,221,171 (GRCm39)	S612R	probably benign	Het
Vps13a	T	C	19: 16,641,926 (GRCm39)	T2234A	probably benign	Het
Vps39	A	G	2: 120,152,053 (GRCm39)		probably benign	Het
Zdhhc3	A	T	9: 122,920,146 (GRCm39)	C120S	probably benign	Het
Zfp37	A	G	4: 62,109,471 (GRCm39)	F531S	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
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
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'- CCTAATGAGGCCTCTTTTGAATTATGG -3'
(R):5'- TTACACTAAGATGCAACAGGAAGAC -3'

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

Posted On

2017-02-15