Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Nobox'

687299

Institutional Source

Beutler Lab

Gene Symbol

Nobox

Ensembl Gene

ENSMUSG00000029736

Gene Name

NOBOX oogenesis homeobox

Synonyms

Og2x

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43303674-43309554 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43307588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 41 (D41E)

Ref Sequence

ENSEMBL: ENSMUSP00000031749 (fasta)

Gene Model

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

AlphaFold

Q8VIH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031749
AA Change: D41E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: D41E

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

probably benign
Transcript: ENSMUST00000172554

SMART Domains

Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	C	T	8: 36,511,800	R186*	probably null	Het
Abca9	A	G	11: 110,130,635	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,460,392	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,765,445		probably null	Het
Bptf	A	G	11: 107,073,016	V1784A	probably damaging	Het
Cabs1	T	C	5: 87,980,450	V320A	probably damaging	Het
Camta1	A	C	4: 151,144,702	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922	K466*	probably null	Het
Cdhr1	G	A	14: 37,088,967	P279L	possibly damaging	Het
Cenpe	A	G	3: 135,270,811	N2393S	probably benign	Het
Cep104	T	C	4: 153,979,005	V8A	probably benign	Het
Chaf1a	T	A	17: 56,064,110	V665E	probably damaging	Het
Clasp1	T	A	1: 118,503,853	D404E	probably damaging	Het
Clnk	G	A	5: 38,750,408	T169I	possibly damaging	Het
Cnst	G	A	1: 179,610,022	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,016	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,516,860	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,368,697	K572R	probably benign	Het
Dolk	C	A	2: 30,284,530	W501L	probably damaging	Het
Ednrb	G	A	14: 103,843,229	P83L	probably benign	Het
Edrf1	T	C	7: 133,643,702	W190R	probably damaging	Het
Epha5	T	A	5: 84,108,027	D468V	probably damaging	Het
Fat2	G	T	11: 55,303,721	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,750,782	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,867,623	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,028,083	S557R	probably benign	Het
Gm340	A	T	19: 41,584,960	H718L	probably benign	Het
Gmip	A	T	8: 69,820,648	H863L	probably damaging	Het
Grm3	A	T	5: 9,570,464	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,746,148	P64S	probably benign	Het
Hand1	A	C	11: 57,831,722	M22R	probably benign	Het
Igsf21	A	G	4: 140,157,471	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,539,478	R291*	probably null	Het
Itih4	C	G	14: 30,896,693	P687R	probably benign	Het
Kifc3	C	T	8: 95,126,567	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,319,012	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,627,882	R101S	unknown	Het
L3mbtl2	T	A	15: 81,676,543		probably benign	Het
Lrrc73	T	C	17: 46,254,367	I8T	probably damaging	Het
Med19	C	A	2: 84,686,188		probably benign	Het
Mgarp	C	T	3: 51,388,843	S246N	unknown	Het
Mkrn2	T	C	6: 115,617,720	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,896,013	R137H	unknown	Het
Myo1g	A	G	11: 6,514,916	Y453H	probably damaging	Het
Nacc2	C	A	2: 26,061,593	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,894,873	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,434,431	T580K	probably damaging	Het
Nsd1	A	G	13: 55,245,854	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,364,820	M370V	probably benign	Het
Olfm5	T	A	7: 104,153,892	N455Y	probably damaging	Het
Olfr1080	T	A	2: 86,553,677	Y149F	probably damaging	Het
Olfr1188	T	A	2: 88,559,519	F6I	probably damaging	Het
Olfr130	T	C	17: 38,067,288	V39A	probably benign	Het
Olfr150	G	A	9: 39,737,590	M258I	probably benign	Het
Olfr596	T	C	7: 103,309,979	I86T	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Pclo	A	T	5: 14,713,178	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,502,952	Q1910L	probably damaging	Het
Plg	C	A	17: 12,390,220	Y137*	probably null	Het
Prkra	T	C	2: 76,630,512	I281V	probably benign	Het
Prrc2c	A	C	1: 162,675,726	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,485,500	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,658,291	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772	Y17N	possibly damaging	Het
Ryr1	A	T	7: 29,090,997	H1468Q	probably damaging	Het
Scp2	C	T	4: 108,055,520	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,173,065	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,735,464	S34G	probably benign	Het
Shisa9	T	A	16: 11,985,038	I153N	probably damaging	Het
Sin3b	C	A	8: 72,723,464	P3H	unknown	Het
Slc15a2	C	A	16: 36,782,357	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,419,591	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,981,449		probably null	Het
Slfn4	A	T	11: 83,186,650	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491	Q460K	probably benign	Het
Tlr11	A	T	14: 50,360,977	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384		probably benign	Het
Tnfsf10	G	A	3: 27,335,230	D147N	probably benign	Het
Tpm1	A	G	9: 67,047,856	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,207,889		probably benign	Het
Ttc30b	T	C	2: 75,937,252	T386A	probably benign	Het
Ttn	T	C	2: 76,762,717	T20730A	possibly damaging	Het
Uap1	A	T	1: 170,149,444	Y395*	probably null	Het
Usp2	A	T	9: 44,075,879	D158V	probably damaging	Het
Usp30	A	G	5: 114,105,816	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,116,751	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,425,610	V286A	probably benign	Het
Wdr78	T	A	4: 103,048,302	K761*	probably null	Het
Xdh	T	C	17: 73,910,227	H682R	probably benign	Het
Zbed3	T	A	13: 95,336,491	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,948,313	C373R	possibly damaging	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
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
R9474:Nobox	UTSW	6	43307181	missense	probably damaging	1.00

Predicted Primers

Posted On

2021-11-19