Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01762:Nobox'

153273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nobox

Ensembl Gene

ENSMUSG00000029736

Gene Name

NOBOX oogenesis homeobox

Synonyms

Og2x

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

IGL01762

Quality Score

Status

Chromosome

Chromosomal Location

43303674-43309554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43303993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 516 (K516Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031749]

AlphaFold

Q8VIH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031749
AA Change: K516Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K516Q

Domain	Start	End	E-Value	Type
HOX	136	198	5.04e-23	SMART
low complexity region	364	384	N/A	INTRINSIC
low complexity region	389	403	N/A	INTRINSIC
low complexity region	408	420	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000172554
AA Change: K315Q

SMART Domains

Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K315Q

Domain	Start	End	E-Value	Type
Pfam:Homeobox	1	22	4e-7	PFAM
low complexity region	161	173	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183706

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display oocyte degeneration after birth, atrophic ovaries, and female infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	A	10: 43,174,851	L47*	probably null	Het
Abca13	A	T	11: 9,315,423	T3033S	probably benign	Het
Atp1a2	C	A	1: 172,284,913	V503L	possibly damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cacna1e	T	A	1: 154,471,373	D770V	possibly damaging	Het
Camkk1	A	G	11: 73,030,801		probably null	Het
Cd34	T	A	1: 194,939,033	M23K	probably benign	Het
Cndp1	T	A	18: 84,622,286	I265F	probably damaging	Het
Cux2	A	G	5: 121,873,145	I574T	probably damaging	Het
Fam129a	T	C	1: 151,636,491	V48A	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Galk1	A	G	11: 116,010,008	Y236H	probably damaging	Het
Gbp11	T	C	5: 105,327,607	I292V	probably benign	Het
Gprc5c	A	G	11: 114,864,024	I176V	probably benign	Het
Myh6	T	C	14: 54,962,081	K258E	probably benign	Het
Nlrp9c	T	A	7: 26,385,425	D243V	probably damaging	Het
Nudcd3	A	G	11: 6,150,560	S195P	probably damaging	Het
Pde10a	T	C	17: 8,942,918	I477T	possibly damaging	Het
Pgbd5	C	T	8: 124,370,610	A394T	probably damaging	Het
Piezo1	G	A	8: 122,487,929	R1553*	probably null	Het
Prkd1	T	C	12: 50,387,230	I577V	probably benign	Het
Prss34	T	C	17: 25,299,812	I256T	probably benign	Het
Ptprg	A	G	14: 12,037,386	T189A	probably benign	Het
Ptprr	C	T	10: 116,236,733	T200I	probably damaging	Het
Samd8	C	T	14: 21,780,100	P198L	probably damaging	Het
Sema3c	T	C	5: 17,694,851	L447P	possibly damaging	Het
Slc22a23	A	T	13: 34,204,001	F371I	possibly damaging	Het
Slc2a2	A	G	3: 28,717,472	R184G	probably damaging	Het
Slitrk6	T	A	14: 110,751,624	D217V	probably damaging	Het
Tlr2	A	G	3: 83,836,994	V594A	probably benign	Het
Vmn2r109	A	G	17: 20,554,392	F234L	probably benign	Het
Vmn2r12	A	C	5: 109,086,564	L594R	probably damaging	Het
Vmn2r124	A	G	17: 18,063,172	Q376R	possibly damaging	Het
Vmn2r7	T	C	3: 64,691,435	D567G	probably benign	Het

Other mutations in Nobox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Nobox	APN	6	43304001	missense	possibly damaging	0.85
IGL01399:Nobox	APN	6	43304038	missense	probably benign	0.06
IGL01523:Nobox	APN	6	43304123	missense	probably damaging	0.96
IGL02007:Nobox	APN	6	43307538	missense	probably damaging	0.99
IGL02582:Nobox	APN	6	43305039	missense	possibly damaging	0.53
IGL02733:Nobox	APN	6	43307202	missense	possibly damaging	0.95
IGL02902:Nobox	APN	6	43305683	missense	probably benign	0.12
IGL02988:Nobox	UTSW	6	43305161	missense	possibly damaging	0.79
R0056:Nobox	UTSW	6	43304919	missense	probably benign	0.23
R0418:Nobox	UTSW	6	43307235	missense	probably null
R0699:Nobox	UTSW	6	43307210	missense	probably benign	0.11
R1387:Nobox	UTSW	6	43307198	missense	probably damaging	1.00
R1619:Nobox	UTSW	6	43307467	missense	possibly damaging	0.86
R1630:Nobox	UTSW	6	43307212	nonsense	probably null
R2184:Nobox	UTSW	6	43304885	missense	possibly damaging	0.72
R2760:Nobox	UTSW	6	43304106	missense	probably damaging	0.99
R3752:Nobox	UTSW	6	43307233	missense	probably damaging	0.96
R4273:Nobox	UTSW	6	43306008	missense	probably benign	0.12
R4790:Nobox	UTSW	6	43305546	missense	probably benign	0.12
R4805:Nobox	UTSW	6	43305119	missense	probably damaging	0.99
R6109:Nobox	UTSW	6	43305169	missense	probably damaging	0.98
R6759:Nobox	UTSW	6	43307604	missense	possibly damaging	0.70
R7761:Nobox	UTSW	6	43304191	nonsense	probably null
R8084:Nobox	UTSW	6	43305167	missense	possibly damaging	0.92
R8113:Nobox	UTSW	6	43306017	missense	probably benign	0.25
R8467:Nobox	UTSW	6	43305545	missense	probably benign	0.12
R9035:Nobox	UTSW	6	43307588	missense	probably damaging	0.96
R9474:Nobox	UTSW	6	43307181	missense	probably damaging	1.00

Posted On

2014-02-04