Mutagenetix > Incidental Mutation

Incidental Mutation 'R0418:Nobox'

36860

Institutional Source

Beutler Lab

Gene Symbol

Nobox

Ensembl Gene

ENSMUSG00000029736

Gene Name

NOBOX oogenesis homeobox

Synonyms

Og2x

MMRRC Submission

038620-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.457) question?

Stock #

R0418 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

43280608-43286488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43284169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1 (K1E)

Gene Model

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

AlphaFold

Q8VIH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031749
AA Change: K126E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K126E

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 null
Transcript: ENSMUST00000172554
AA Change: K1E

SMART Domains

Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K1E

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.2%

Validation Efficiency

98% (64/65)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	G	T	2: 103,953,675 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,806,657 (GRCm39)	L19P	probably damaging	Het
Abcb1a	T	A	5: 8,763,281 (GRCm39)	V603E	probably damaging	Het
Acsl5	A	G	19: 55,261,238 (GRCm39)	D65G	probably benign	Het
Acss3	T	C	10: 106,859,773 (GRCm39)	Y311C	probably damaging	Het
Ak8	T	G	2: 28,623,868 (GRCm39)	I151S	possibly damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,546,875 (GRCm39)	R393G	possibly damaging	Het
Ankhd1	T	A	18: 36,767,353 (GRCm39)	L1164Q	probably damaging	Het
Ascc3	G	T	10: 50,625,022 (GRCm39)	V1637L	probably benign	Het
Atf5	A	G	7: 44,462,821 (GRCm39)	M101T	possibly damaging	Het
Det1	T	C	7: 78,493,765 (GRCm39)	T80A	probably benign	Het
Dpp9	C	T	17: 56,501,404 (GRCm39)		probably benign	Het
Fam13c	A	G	10: 70,370,591 (GRCm39)	R244G	probably damaging	Het
Fat3	A	T	9: 16,158,192 (GRCm39)	N1139K	probably damaging	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fli1	T	C	9: 32,363,425 (GRCm39)		probably benign	Het
Glb1l2	T	G	9: 26,705,397 (GRCm39)	D151A	probably damaging	Het
Gli2	G	A	1: 118,768,220 (GRCm39)	T669I	possibly damaging	Het
Igsf3	C	A	3: 101,342,751 (GRCm39)	R463S	probably damaging	Het
Il1rl2	T	C	1: 40,365,662 (GRCm39)	V3A	unknown	Het
Irx3	G	A	8: 92,526,708 (GRCm39)	S332F	probably benign	Het
Katnb1	C	T	8: 95,822,286 (GRCm39)	T303M	possibly damaging	Het
Lrrc31	A	T	3: 30,743,383 (GRCm39)	L194Q	probably damaging	Het
Lrrc37a	T	G	11: 103,394,264 (GRCm39)	E387A	probably benign	Het
Mapk14	T	C	17: 28,910,763 (GRCm39)	I17T	probably benign	Het
Mtif2	A	G	11: 29,483,401 (GRCm39)		probably benign	Het
Myo16	A	G	8: 10,619,918 (GRCm39)	T1490A	probably benign	Het
Nfasc	A	G	1: 132,539,333 (GRCm39)	V399A	probably damaging	Het
Nhsl3	A	G	4: 129,117,477 (GRCm39)	S396P	probably damaging	Het
Nr2c1	A	T	10: 94,017,374 (GRCm39)	M371L	probably benign	Het
Oplah	C	T	15: 76,182,687 (GRCm39)	R924H	probably benign	Het
Or10ak16	C	T	4: 118,750,448 (GRCm39)	T56I	possibly damaging	Het
Or51a10	G	A	7: 103,698,979 (GRCm39)	T194I	probably benign	Het
Pappa2	C	A	1: 158,544,560 (GRCm39)	C1756F	probably damaging	Het
Pdzd8	G	A	19: 59,289,361 (GRCm39)	R680C	probably damaging	Het
Rassf3	G	A	10: 121,253,075 (GRCm39)	T44M	probably benign	Het
Rmnd1	T	C	10: 4,377,693 (GRCm39)		probably null	Het
Rnf126	C	T	10: 79,598,477 (GRCm39)		probably benign	Het
Rnf144b	T	C	13: 47,397,966 (GRCm39)	S299P	probably benign	Het
Ryr2	A	G	13: 11,848,981 (GRCm39)		probably benign	Het
Scel	T	A	14: 103,840,690 (GRCm39)	S511T	probably benign	Het
Slc16a10	G	T	10: 39,916,627 (GRCm39)	S138*	probably null	Het
Slc36a4	A	T	9: 15,645,562 (GRCm39)	I330F	probably damaging	Het
Slc5a8	A	G	10: 88,722,420 (GRCm39)	I84M	probably benign	Het
Spag9	T	C	11: 93,982,579 (GRCm39)		probably benign	Het
Suco	C	T	1: 161,662,419 (GRCm39)	V671I	probably benign	Het
Suox	G	A	10: 128,506,754 (GRCm39)	P425S	probably damaging	Het
Tmem266	T	A	9: 55,344,697 (GRCm39)	V443E	probably benign	Het
Tmprss11f	A	T	5: 86,704,870 (GRCm39)	I16N	probably benign	Het
Tnik	T	A	3: 28,625,029 (GRCm39)	Y321*	probably null	Het
Tnrc6b	T	C	15: 80,797,524 (GRCm39)	M1357T	probably benign	Het
Tpbg	C	A	9: 85,726,803 (GRCm39)	Y257*	probably null	Het
Usp37	A	T	1: 74,529,266 (GRCm39)	S138T	probably benign	Het
Veph1	T	A	3: 66,162,449 (GRCm39)	R70*	probably null	Het
Vmn2r17	C	T	5: 109,600,747 (GRCm39)	P682S	probably damaging	Het
Vmn2r79	A	C	7: 86,651,611 (GRCm39)	N337H	probably benign	Het
Vstm2b	A	G	7: 40,551,876 (GRCm39)	D68G	probably damaging	Het
Vwa7	G	T	17: 35,236,933 (GRCm39)	A167S	possibly damaging	Het
Zfp647	A	T	15: 76,795,586 (GRCm39)	I358N	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Nobox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Nobox	APN	6	43,280,935 (GRCm39)	missense	possibly damaging	0.85
IGL01399:Nobox	APN	6	43,280,972 (GRCm39)	missense	probably benign	0.06
IGL01523:Nobox	APN	6	43,281,057 (GRCm39)	missense	probably damaging	0.96
IGL01762:Nobox	APN	6	43,280,927 (GRCm39)	missense	probably damaging	0.96
IGL02007:Nobox	APN	6	43,284,472 (GRCm39)	missense	probably damaging	0.99
IGL02582:Nobox	APN	6	43,281,973 (GRCm39)	missense	possibly damaging	0.53
IGL02733:Nobox	APN	6	43,284,136 (GRCm39)	missense	possibly damaging	0.95
IGL02902:Nobox	APN	6	43,282,617 (GRCm39)	missense	probably benign	0.12
IGL02988:Nobox	UTSW	6	43,282,095 (GRCm39)	missense	possibly damaging	0.79
R0056:Nobox	UTSW	6	43,281,853 (GRCm39)	missense	probably benign	0.23
R0699:Nobox	UTSW	6	43,284,144 (GRCm39)	missense	probably benign	0.11
R1387:Nobox	UTSW	6	43,284,132 (GRCm39)	missense	probably damaging	1.00
R1619:Nobox	UTSW	6	43,284,401 (GRCm39)	missense	possibly damaging	0.86
R1630:Nobox	UTSW	6	43,284,146 (GRCm39)	nonsense	probably null
R2184:Nobox	UTSW	6	43,281,819 (GRCm39)	missense	possibly damaging	0.72
R2760:Nobox	UTSW	6	43,281,040 (GRCm39)	missense	probably damaging	0.99
R3752:Nobox	UTSW	6	43,284,167 (GRCm39)	missense	probably damaging	0.96
R4273:Nobox	UTSW	6	43,282,942 (GRCm39)	missense	probably benign	0.12
R4790:Nobox	UTSW	6	43,282,480 (GRCm39)	missense	probably benign	0.12
R4805:Nobox	UTSW	6	43,282,053 (GRCm39)	missense	probably damaging	0.99
R6109:Nobox	UTSW	6	43,282,103 (GRCm39)	missense	probably damaging	0.98
R6759:Nobox	UTSW	6	43,284,538 (GRCm39)	missense	possibly damaging	0.70
R7761:Nobox	UTSW	6	43,281,125 (GRCm39)	nonsense	probably null
R8084:Nobox	UTSW	6	43,282,101 (GRCm39)	missense	possibly damaging	0.92
R8113:Nobox	UTSW	6	43,282,951 (GRCm39)	missense	probably benign	0.25
R8467:Nobox	UTSW	6	43,282,479 (GRCm39)	missense	probably benign	0.12
R9035:Nobox	UTSW	6	43,284,522 (GRCm39)	missense	probably damaging	0.96
R9474:Nobox	UTSW	6	43,284,115 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGCAAAGTGACTGACTGCAC -3'
(R):5'- GCCCATCCAGGATGATCAAGACAAG -3'

Sequencing Primer
(F):5'- GTGACTGACTGCACCCTCC -3'
(R):5'- GTTGTTCTCCCCCAGAGAGAAAG -3'

Posted On

2013-05-09