Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02733:Nobox'

305540

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: 0.396) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

43303674-43309554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43307202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 137 (K137E)

Ref Sequence

ENSEMBL: ENSMUSP00000031749 (fasta)

Gene Model

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

AlphaFold

Q8VIH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031749
AA Change: K137E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K137E

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: K12E

SMART Domains

Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K12E

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
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Agl	T	C	3: 116,780,997	I718V	probably benign	Het
Cbs	T	A	17: 31,625,031	N209Y	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Impa1	A	G	3: 10,328,965	I14T	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Myom3	G	T	4: 135,814,303	E1402*	probably null	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Ppp2r2b	T	C	18: 42,648,728	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,146,836	N526K	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
IGL01762:Nobox	APN	6	43303993	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
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

2015-04-16