Mutagenetix > Incidental Mutation

Incidental Mutation 'R4076:Obox3'

316559

Institutional Source

Beutler Lab

Gene Symbol

Obox3

Ensembl Gene

ENSMUSG00000066772

Gene Name

oocyte specific homeobox 3

Synonyms

MMRRC Submission

040975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4076 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

15479825-15639902 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15625799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 315 (T315N)

Ref Sequence

ENSEMBL: ENSMUSP00000134531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086122] [ENSMUST00000095217] [ENSMUST00000173395] [ENSMUST00000173912] [ENSMUST00000174151] [ENSMUST00000174443] [ENSMUST00000174842]

AlphaFold

Q3UT54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086122
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: T315N

Domain	Start	End	E-Value	Type
HOX	94	156	1.84e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095217
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: T315N

Domain	Start	End	E-Value	Type
HOX	94	156	1.84e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173395

SMART Domains

Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772

Domain	Start	End	E-Value	Type
HOX	94	156	1.84e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173912
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: T315N

Domain	Start	End	E-Value	Type
HOX	94	156	1.84e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174151

SMART Domains

Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772

Domain	Start	End	E-Value	Type
HOX	94	156	1.84e-16	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174443
AA Change: T315N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: T315N

Domain	Start	End	E-Value	Type
HOX	94	156	1.84e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174842

SMART Domains

Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772

Domain	Start	End	E-Value	Type
HOX	94	151	1.46e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182148

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Anxa5	T	C	3: 36,450,380	I277V	probably benign	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Cd48	T	A	1: 171,695,883	V98D	probably damaging	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Dnali1	T	C	4: 125,059,470	D188G	probably damaging	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Fras1	G	C	5: 96,743,158	D2849H	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hdc	C	T	2: 126,616,261	R47Q	possibly damaging	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Ltb4r2	A	T	14: 55,762,941	R340W	probably benign	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Nars2	T	A	7: 96,958,094	S91T	probably damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Osgin1	A	C	8: 119,445,033	S189R	possibly damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pik3c2g	A	T	6: 139,852,863	N373I	probably damaging	Het
Pou2f2	T	C	7: 25,097,288	T270A	probably damaging	Het
Rad51b	T	G	12: 79,314,882	S122R	probably damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Tfb1m	T	A	17: 3,521,670	R257W	probably damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het

Other mutations in Obox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Obox3	APN	7	15626852	missense	probably benign	0.00
IGL02601:Obox3	APN	7	15626923	missense	probably damaging	0.99
IGL02978:Obox3	APN	7	15626253	missense	probably benign	0.11
IGL03088:Obox3	APN	7	15627002	splice site	probably benign
IGL03178:Obox3	APN	7	15627277	missense	probably benign	0.12
IGL03219:Obox3	APN	7	15625878	missense	probably damaging	0.99
IGL03373:Obox3	APN	7	15625790	missense	probably benign	0.01
R0119:Obox3	UTSW	7	15626327	critical splice acceptor site	probably null
R1471:Obox3	UTSW	7	15626950	missense	probably benign	0.01
R3916:Obox3	UTSW	7	15627226	missense	probably benign	0.00
R4072:Obox3	UTSW	7	15625799	missense	possibly damaging	0.92
R4073:Obox3	UTSW	7	15625799	missense	possibly damaging	0.92
R4075:Obox3	UTSW	7	15625799	missense	possibly damaging	0.92
R4712:Obox3	UTSW	7	15626839	missense	probably benign	0.04
R4751:Obox3	UTSW	7	15625692	critical splice donor site	probably null
R4868:Obox3	UTSW	7	15627310	missense	probably damaging	1.00
R5151:Obox3	UTSW	7	15626248	missense	probably damaging	1.00
R5290:Obox3	UTSW	7	15626849	missense	probably benign	0.03
R5399:Obox3	UTSW	7	15626288	missense	probably benign	0.00
R5882:Obox3	UTSW	7	15626968	missense	probably benign	0.17
R6147:Obox3	UTSW	7	15626001	missense	probably damaging	0.99
R6378:Obox3	UTSW	7	15626102	missense	probably benign	0.00
R7221:Obox3	UTSW	7	15626058	missense	probably benign	0.01
R7314:Obox3	UTSW	7	15627154	missense	possibly damaging	0.50
R8124:Obox3	UTSW	7	15589949	splice site	probably null
R8711:Obox3	UTSW	7	15626223	missense	probably benign	0.44
R8825:Obox3	UTSW	7	15627301	missense	possibly damaging	0.94
Z1176:Obox3	UTSW	7	15626224	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGGACTCCGAATTATGTGCTC -3'
(R):5'- GAATCTCAAACTGACTTAGCAGTAGC -3'

Sequencing Primer
(F):5'- AACTTTATCTGCCTCAGTACAGGGG -3'
(R):5'- GCAGTAGCTGAAGTTCCAGTC -3'

Posted On

2015-05-15