Mutagenetix > Incidental Mutation

Incidental Mutation 'R9598:Ndufb5'

723374

Institutional Source

Beutler Lab

Gene Symbol

Ndufb5

Ensembl Gene

ENSMUSG00000027673

Gene Name

NADH:ubiquinone oxidoreductase subunit B5

Synonyms

0610007D05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.579) question?

Stock #

R9598 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32791206-32805708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32795881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 24 (L24F)

Ref Sequence

ENSEMBL: ENSMUSP00000115088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029217] [ENSMUST00000043966] [ENSMUST00000121778] [ENSMUST00000122290] [ENSMUST00000127477] [ENSMUST00000139593] [ENSMUST00000154257]

AlphaFold

Q9CQH3

Predicted Effect

probably benign
Transcript: ENSMUST00000029217

Predicted Effect

probably benign
Transcript: ENSMUST00000043966

SMART Domains

Protein: ENSMUSP00000048078
Gene: ENSMUSG00000037531

Domain	Start	End	E-Value	Type
Pfam:MRP-L47	66	151	4.6e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121778

SMART Domains

Protein: ENSMUSP00000113169
Gene: ENSMUSG00000027673

Domain	Start	End	E-Value	Type
Pfam:NDUF_B5	1	163	5.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122290

SMART Domains

Protein: ENSMUSP00000113602
Gene: ENSMUSG00000027673

Domain	Start	End	E-Value	Type
Pfam:NDUF_B5	1	119	1.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127477

SMART Domains

Protein: ENSMUSP00000114963
Gene: ENSMUSG00000027673

Domain	Start	End	E-Value	Type
Pfam:NDUF_B5	1	189	3.5e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139593
AA Change: L24F

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115088
Gene: ENSMUSG00000027673
AA Change: L24F

Domain	Start	End	E-Value	Type
Pfam:NDUF_B5	6	172	6e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154257

SMART Domains

Protein: ENSMUSP00000117240
Gene: ENSMUSG00000027673

Domain	Start	End	E-Value	Type
Pfam:NDUF_B5	1	135	8.4e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156174

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,604 (GRCm39)	I302V	probably benign	Het
Ackr2	A	C	9: 121,737,657 (GRCm39)	T11P	possibly damaging	Het
Ahnak	A	G	19: 8,981,149 (GRCm39)	N811S	probably benign	Het
Atm	T	C	9: 53,431,381 (GRCm39)	I326V	probably benign	Het
Ccn4	T	A	15: 66,784,764 (GRCm39)	C146S	possibly damaging	Het
Cdh23	A	T	10: 60,214,574 (GRCm39)	F1480L	probably benign	Het
Celsr2	T	C	3: 108,322,578 (GRCm39)	E78G	possibly damaging	Het
Ces1f	A	T	8: 93,983,494 (GRCm39)	N504K	probably benign	Het
Chrna4	G	A	2: 180,679,264 (GRCm39)	S61L	probably damaging	Het
Clcn3	G	T	8: 61,366,061 (GRCm39)	T864K	unknown	Het
Cym	A	C	3: 107,126,941 (GRCm39)	D71E	possibly damaging	Het
Ddx19b	T	C	8: 111,747,673 (GRCm39)	D87G	probably benign	Het
Dnah7b	T	C	1: 46,292,621 (GRCm39)	V3002A	possibly damaging	Het
Dnmt3a	G	A	12: 3,946,997 (GRCm39)	G408S	probably benign	Het
Dock10	A	T	1: 80,625,939 (GRCm39)	D66E	probably benign	Het
Dsg3	A	G	18: 20,672,789 (GRCm39)	D820G	probably damaging	Het
Dst	G	A	1: 34,153,014 (GRCm39)	V92I	possibly damaging	Het
Dusp16	T	A	6: 134,695,185 (GRCm39)	T549S	probably benign	Het
Ephx1	T	A	1: 180,827,381 (GRCm39)	K91*	probably null	Het
Flii	A	G	11: 60,617,991 (GRCm39)	F9L	probably benign	Het
Fmn2	T	C	1: 174,436,308 (GRCm39)	S760P	unknown	Het
Fmnl3	A	T	15: 99,223,210 (GRCm39)	V378E	probably damaging	Het
Gbp4	A	G	5: 105,284,740 (GRCm39)	S50P	probably damaging	Het
Glra3	G	T	8: 56,393,718 (GRCm39)		probably benign	Het
Gm10188	T	C	1: 132,157,033 (GRCm39)	D111G	unknown	Het
Gnptab	A	T	10: 88,247,876 (GRCm39)	E101V	probably damaging	Het
Hacl1	C	A	14: 31,332,197 (GRCm39)	M525I	probably benign	Het
Hid1	T	A	11: 115,239,738 (GRCm39)	T731S	probably damaging	Het
Ifi203	T	C	1: 173,751,522 (GRCm39)	Y847C	probably damaging	Het
Igfbpl1	C	A	4: 45,815,472 (GRCm39)	L221F	probably null	Het
Ighv1-12	A	G	12: 114,579,757 (GRCm39)	Y22H	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
L3mbtl4	T	A	17: 68,866,767 (GRCm39)	H335Q	probably benign	Het
Mapre2	A	G	18: 24,016,707 (GRCm39)	D287G	probably benign	Het
Mfsd14b	G	A	13: 65,214,522 (GRCm39)	R477W	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Msh4	A	T	3: 153,607,148 (GRCm39)	S131T	possibly damaging	Het
Nat8f2	A	T	6: 85,844,848 (GRCm39)	D171E	probably benign	Het
Nkain2	T	C	10: 32,278,291 (GRCm39)	I45V	probably damaging	Het
Nlrp9b	T	G	7: 19,753,302 (GRCm39)	M69R	probably benign	Het
Or4k37	A	T	2: 111,159,633 (GRCm39)	R290*	probably null	Het
Or5d39	A	C	2: 87,979,935 (GRCm39)	C143G	probably damaging	Het
Or5d46	A	T	2: 88,170,821 (GRCm39)	K304I	possibly damaging	Het
Oxct2b	T	A	4: 123,010,413 (GRCm39)	V111E	possibly damaging	Het
Parva	T	A	7: 112,187,753 (GRCm39)	V350D	probably damaging	Het
Pcdhb7	A	G	18: 37,475,434 (GRCm39)	D190G	probably damaging	Het
Pik3c2b	T	C	1: 133,012,725 (GRCm39)		probably null	Het
Plcz1	T	A	6: 139,985,484 (GRCm39)	Q19L	possibly damaging	Het
Prag1	A	G	8: 36,571,069 (GRCm39)	N551D	probably benign	Het
Rb1cc1	G	A	1: 6,310,189 (GRCm39)	V196I	probably damaging	Het
Rnf113a2	T	C	12: 84,464,270 (GRCm39)	V54A	probably benign	Het
Sec14l1	G	A	11: 117,044,102 (GRCm39)	E537K	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Shtn1	T	A	19: 59,026,735 (GRCm39)	I119F	probably damaging	Het
Szt2	A	G	4: 118,266,358 (GRCm39)		probably null	Het
Tasp1	T	C	2: 139,819,567 (GRCm39)	D212G	probably benign	Het
Tmpo	A	G	10: 90,994,608 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,489,718 (GRCm39)	K403R	probably benign	Het
Vcpip1	A	G	1: 9,816,019 (GRCm39)	V788A	probably benign	Het
Wdr25	C	A	12: 108,864,613 (GRCm39)	H253N	probably benign	Het
Wwc2	G	A	8: 48,328,360 (GRCm39)	S367L	probably damaging	Het
Zfr	A	G	15: 12,162,292 (GRCm39)	E814G	probably damaging	Het

Other mutations in Ndufb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ndufb5	APN	3	32,799,048 (GRCm39)	missense	probably damaging	0.98
IGL01688:Ndufb5	APN	3	32,800,613 (GRCm39)	nonsense	probably null
IGL02629:Ndufb5	APN	3	32,791,348 (GRCm39)	missense	probably benign	0.02
R0084:Ndufb5	UTSW	3	32,791,352 (GRCm39)	missense	probably benign	0.02
R2851:Ndufb5	UTSW	3	32,800,600 (GRCm39)	missense	probably damaging	1.00
R5663:Ndufb5	UTSW	3	32,801,898 (GRCm39)	missense	possibly damaging	0.90
R5742:Ndufb5	UTSW	3	32,801,930 (GRCm39)	missense	probably damaging	0.99
R6609:Ndufb5	UTSW	3	32,795,832 (GRCm39)	missense	probably benign	0.01
R8492:Ndufb5	UTSW	3	32,805,377 (GRCm39)	splice site	probably null
R9244:Ndufb5	UTSW	3	32,795,906 (GRCm39)	missense	probably null	0.00
Z31818:Ndufb5	UTSW	3	32,800,610 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GTAGAGCCCTCTTTCCTCAATGG -3'
(R):5'- TATCCATTCCAGAGCTCGGTTG -3'

Sequencing Primer
(F):5'- GCCCTCTTTCCTCAATGGTTCTTTAG -3'
(R):5'- CCATTCCAGAGCTCGGTTGTTTTG -3'

Posted On

2022-08-09