Mutagenetix > Incidental Mutation

Incidental Mutation 'R6899:Nubpl'

541027

Institutional Source

Beutler Lab

Gene Symbol

Nubpl

Ensembl Gene

ENSMUSG00000035142

Gene Name

nucleotide binding protein-like

Synonyms

2410170E07Rik

MMRRC Submission

044993-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52144529-52357753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52357536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 317 (S317T)

Ref Sequence

ENSEMBL: ENSMUSP00000044292 (fasta)

Gene Model

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

AlphaFold

Q9CWD8

Predicted Effect

probably benign
Transcript: ENSMUST00000040090
AA Change: S317T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044292
Gene: ENSMUSG00000035142
AA Change: S317T

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: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,264 (GRCm39)	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,652,533 (GRCm39)	G198S	probably damaging	Het
Adcy2	A	T	13: 69,130,500 (GRCm39)	M129K	probably damaging	Het
Apmap	T	A	2: 150,436,228 (GRCm39)	I107F	probably benign	Het
Arrdc3	T	C	13: 81,037,330 (GRCm39)	I162T	probably damaging	Het
Asprv1	T	C	6: 86,605,742 (GRCm39)	L196P	probably damaging	Het
Atpsckmt	A	G	15: 31,617,257 (GRCm39)	S163G	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,687,173 (GRCm39)	M177K	probably benign	Het
C8b	A	T	4: 104,644,071 (GRCm39)	K246M	probably benign	Het
Cdo1	A	G	18: 46,856,407 (GRCm39)	C76R	probably damaging	Het
Ces2b	T	A	8: 105,563,398 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,902 (GRCm39)	S194N	probably benign	Het
Dap3	A	G	3: 88,840,907 (GRCm39)	F77L	probably benign	Het
Dars1	A	G	1: 128,341,483 (GRCm39)	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,922,776 (GRCm39)	D461V	possibly damaging	Het
Ero1a	A	C	14: 45,530,396 (GRCm39)	H345Q	probably benign	Het
Fzd8	T	A	18: 9,214,729 (GRCm39)	S604T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gramd1c	T	A	16: 43,860,505 (GRCm39)	Y64F	probably benign	Het
Heatr5b	T	A	17: 79,110,938 (GRCm39)	Y970F	probably benign	Het
Hoxc10	A	G	15: 102,875,942 (GRCm39)	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,212,352 (GRCm39)	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifna9	A	G	4: 88,510,300 (GRCm39)	F108S	probably damaging	Het
Ikbke	A	G	1: 131,203,499 (GRCm39)	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,290,060 (GRCm39)	R462C	possibly damaging	Het
Junb	A	G	8: 85,704,353 (GRCm39)	F236L	probably benign	Het
Klhl36	T	C	8: 120,596,881 (GRCm39)	V194A	probably benign	Het
Lsg1	A	T	16: 30,400,906 (GRCm39)	D134E	probably benign	Het
Megf8	G	T	7: 25,060,138 (GRCm39)	C2343F	probably damaging	Het
Mtres1	T	C	10: 43,408,780 (GRCm39)	E121G	possibly damaging	Het
Myom3	G	A	4: 135,530,603 (GRCm39)	G1172R	probably damaging	Het
Nasp	A	T	4: 116,461,530 (GRCm39)	V548E	probably damaging	Het
Nup210l	A	G	3: 90,075,204 (GRCm39)	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,076,188 (GRCm39)	A373T	probably benign	Het
Psat1	C	T	19: 15,895,569 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Slain1	C	T	14: 103,888,215 (GRCm39)	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,137,949 (GRCm39)	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,025,473 (GRCm39)	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,879,739 (GRCm39)	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,394,352 (GRCm39)	P74L	probably damaging	Het
Sod3	A	G	5: 52,526,050 (GRCm39)	T250A	unknown	Het
Syne2	A	G	12: 76,142,503 (GRCm39)		probably null	Het
Tctn1	A	G	5: 122,387,019 (GRCm39)	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,603,305 (GRCm39)	M448V	probably benign	Het
Tfpi	C	T	2: 84,275,153 (GRCm39)	G152S	probably damaging	Het
Thap4	A	G	1: 93,678,691 (GRCm39)	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,628,744 (GRCm39)	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,244,641 (GRCm39)	E411G	probably damaging	Het
Washc4	C	A	10: 83,411,919 (GRCm39)	D683E	probably benign	Het
Wdr3	A	T	3: 100,057,217 (GRCm39)	V462D	possibly damaging	Het
Wdr5b	T	C	16: 35,862,150 (GRCm39)	S90P	probably damaging	Het
Zfp407	A	G	18: 84,579,559 (GRCm39)	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,728,707 (GRCm39)	I247V	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
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
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'- ACTGTTCGTCTACACCCCAG -3'
(R):5'- CAATGAAAGCAGTGCAGTGC -3'

Sequencing Primer
(F):5'- GCCTGCTTCTTTCTGATCAGATACAG -3'
(R):5'- GCTGAGATATCAGTTGTCAAAACCC -3'

Posted On

2018-11-28