Mutagenetix > Incidental Mutation

Incidental Mutation 'R6759:Nobox'

531138

Institutional Source

Beutler Lab

Gene Symbol

Nobox

Ensembl Gene

ENSMUSG00000029736

Gene Name

NOBOX oogenesis homeobox

Synonyms

Og2x

MMRRC Submission

044875-MU

Accession Numbers

Essential gene?

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

Stock #

R6759 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

43280608-43286488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43284538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 36 (L36Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031749 (fasta)

Gene Model

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

AlphaFold

Q8VIH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031749
AA Change: L36Q

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: L36Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183706

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (49/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,692 (GRCm39)	S841G	probably benign	Het
4933427I04Rik	G	T	4: 123,753,879 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,921,399 (GRCm39)	T199A	probably damaging	Het
Acnat2	C	A	4: 49,380,254 (GRCm39)	V375L	probably benign	Het
Aldh1a7	T	C	19: 20,677,320 (GRCm39)	T434A	possibly damaging	Het
Aldh3a2	T	C	11: 61,156,088 (GRCm39)	T63A	probably benign	Het
Anxa2	T	C	9: 69,391,103 (GRCm39)	S97P	probably damaging	Het
Apip	T	C	2: 102,922,191 (GRCm39)	S186P	probably benign	Het
Apob	A	G	12: 8,061,049 (GRCm39)	K3177R	probably benign	Het
Atm	C	T	9: 53,429,859 (GRCm39)	W392*	probably null	Het
Atp8b1	T	A	18: 64,679,161 (GRCm39)	R773S	probably benign	Het
Bicdl2	T	A	17: 23,885,718 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,042,234 (GRCm39)	T2740I	possibly damaging	Het
Cacng3	G	A	7: 122,361,547 (GRCm39)		probably null	Het
Clca3a1	G	T	3: 144,455,450 (GRCm39)	L448M	probably damaging	Het
Clk4	A	G	11: 51,166,401 (GRCm39)	I94M	possibly damaging	Het
Cnot3	G	T	7: 3,654,918 (GRCm39)	V124F	probably damaging	Het
Cyp4a30b	C	T	4: 115,318,571 (GRCm39)	A426V	probably benign	Het
Dact1	T	A	12: 71,364,911 (GRCm39)	L564*	probably null	Het
Dnah8	T	A	17: 30,882,266 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,033,445 (GRCm39)	T975S	probably benign	Het
Dock8	C	A	19: 25,104,848 (GRCm39)	H739Q	probably damaging	Het
Efr3b	T	A	12: 4,034,613 (GRCm39)	N186Y	probably damaging	Het
Enam	G	A	5: 88,649,550 (GRCm39)	G278D	probably damaging	Het
Fgl2	A	G	5: 21,578,256 (GRCm39)	D181G	probably benign	Het
Gfra3	G	T	18: 34,828,926 (GRCm39)	S156*	probably null	Het
Jam3	G	C	9: 27,013,276 (GRCm39)	T98S	probably benign	Het
Ltbp2	A	T	12: 84,834,184 (GRCm39)	I1435N	probably damaging	Het
Man2a1	G	A	17: 64,932,383 (GRCm39)	A157T	probably benign	Het
Mcm3ap	T	A	10: 76,337,148 (GRCm39)	V1361E	probably benign	Het
Or2ag12	T	A	7: 106,277,100 (GRCm39)	M198L	probably benign	Het
Or51a10	A	G	7: 103,699,334 (GRCm39)	S76P	probably damaging	Het
Parp4	G	A	14: 56,857,947 (GRCm39)	V860I	probably benign	Het
Pim3	T	A	15: 88,747,296 (GRCm39)		probably null	Het
Ptpn13	A	T	5: 103,713,121 (GRCm39)	N1748I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,145 (GRCm39)	T356A	possibly damaging	Het
Ranbp2	C	T	10: 58,293,559 (GRCm39)	R310*	probably null	Het
Rassf5	C	T	1: 131,109,988 (GRCm39)	V190I	probably benign	Het
Rgl1	T	G	1: 152,409,281 (GRCm39)	Q481P	probably damaging	Het
Rrp1b	A	G	17: 32,276,063 (GRCm39)	T537A	probably benign	Het
Smok3c	T	A	5: 138,063,699 (GRCm39)	S395R	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Strn4	A	T	7: 16,556,978 (GRCm39)	E145V	probably damaging	Het
Tex21	T	A	12: 76,251,086 (GRCm39)		probably null	Het
Usp37	G	A	1: 74,534,908 (GRCm39)	R13*	probably null	Het
Uty	G	T	Y: 1,174,735 (GRCm39)	L222I	probably damaging	Homo
Wwp2	A	G	8: 108,267,314 (GRCm39)	T309A	probably damaging	Het
Zfp40	C	T	17: 23,395,510 (GRCm39)	R359H	possibly damaging	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
R0418:Nobox	UTSW	6	43,284,169 (GRCm39)	missense	probably null
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
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'- CTGCAGAAATGGATGGCTTC -3'
(R):5'- AGGCCTCATTTGGTAGACAGG -3'

Sequencing Primer
(F):5'- AAATGGATGGCTTCAGCGATTC -3'
(R):5'- CCTCATTTGGTAGACAGGCAAAG -3'

Posted On

2018-08-01