Mutagenetix > Incidental Mutation

Incidental Mutation 'R6147:Obox3'

488945

Institutional Source

Beutler Lab

Gene Symbol

Obox3

Ensembl Gene

ENSMUSG00000066772

Gene Name

oocyte specific homeobox 3

Synonyms

Ohx

MMRRC Submission

044294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6147 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

15359231-15373702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15359926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

Ref Sequence

ENSEMBL: ENSMUSP00000134531 (fasta)

Gene Model

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

AlphaFold

Q3UT54

Predicted Effect

probably damaging
Transcript: ENSMUST00000086122
AA Change: S248P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: S248P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095217
AA Change: S248P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: S248P

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

probably damaging
Transcript: ENSMUST00000173912
AA Change: S248P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: S248P

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

probably damaging
Transcript: ENSMUST00000174443
AA Change: S248P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: S248P

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

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,657,157 (GRCm39)		probably benign	Het
Acsf3	T	A	8: 123,508,213 (GRCm39)	D236E	probably damaging	Het
Aqp1	G	T	6: 55,313,595 (GRCm39)	E40D	probably benign	Het
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,436,485 (GRCm39)	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,555,134 (GRCm39)	Y165*	probably null	Het
Bclaf1	T	A	10: 20,199,171 (GRCm39)	D189E	possibly damaging	Het
Camsap2	G	A	1: 136,273,138 (GRCm39)	T13M	probably damaging	Het
Cblif	G	A	19: 11,724,936 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,012,894 (GRCm39)	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,506 (GRCm39)	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Comtd1	C	A	14: 21,898,883 (GRCm39)	A20S	probably damaging	Het
Cspg4	A	T	9: 56,796,056 (GRCm39)	R1264W	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dlgap2	T	A	8: 14,777,294 (GRCm39)	C180S	probably benign	Het
Ednra	C	T	8: 78,393,951 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,858,566 (GRCm39)	V3875A	unknown	Het
Ephb6	A	T	6: 41,593,715 (GRCm39)	S533C	probably damaging	Het
Fndc1	A	T	17: 7,972,594 (GRCm39)		probably null	Het
Gm12185	A	G	11: 48,806,717 (GRCm39)	I158T	probably benign	Het
Gm14325	A	T	2: 177,474,600 (GRCm39)	C161S	probably damaging	Het
Ighv9-1	T	A	12: 114,057,840 (GRCm39)	Q20L	probably damaging	Het
Khnyn	G	C	14: 56,125,060 (GRCm39)	S438T	probably damaging	Het
Krt9	T	C	11: 100,079,665 (GRCm39)	S576G	unknown	Het
Lrriq4	A	T	3: 30,713,228 (GRCm39)	N443I	probably damaging	Het
Luzp1	A	G	4: 136,268,374 (GRCm39)	Y199C	probably damaging	Het
Map2k3	T	A	11: 60,840,776 (GRCm39)	Y268*	probably null	Het
Men1	T	A	19: 6,387,272 (GRCm39)	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,573 (GRCm39)	C261S	probably benign	Het
Mpeg1	T	G	19: 12,440,258 (GRCm39)	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,113 (GRCm39)	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,392,945 (GRCm39)	C805*	probably null	Het
Nphs2	A	T	1: 156,146,296 (GRCm39)	K91*	probably null	Het
Or12d17	T	C	17: 37,777,430 (GRCm39)	I111T	probably benign	Het
Or5w19	C	T	2: 87,699,061 (GRCm39)	T242I	probably benign	Het
Or8k22	A	T	2: 86,162,844 (GRCm39)	N285K	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pan3	T	C	5: 147,485,093 (GRCm39)		probably benign	Het
Pate10	A	G	9: 35,653,528 (GRCm39)	T111A	possibly damaging	Het
Pate10	A	T	9: 35,653,406 (GRCm39)	Y70F	possibly damaging	Het
Pcdhb5	T	A	18: 37,453,779 (GRCm39)	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,535,494 (GRCm39)	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,690,481 (GRCm39)	K722E	probably damaging	Het
Plch1	A	G	3: 63,630,302 (GRCm39)	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,611,985 (GRCm39)	V362A	probably damaging	Het
Prorp	A	G	12: 55,426,093 (GRCm39)	Y168C	probably damaging	Het
Radil	G	A	5: 142,483,695 (GRCm39)	H264Y	probably benign	Het
Ranbp2	C	A	10: 58,315,250 (GRCm39)	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,400,112 (GRCm39)	D192G	probably damaging	Het
Ryr1	A	T	7: 28,785,339 (GRCm39)	F1784Y	possibly damaging	Het
Set	T	A	2: 29,956,836 (GRCm39)	S2T	probably benign	Het
Slc26a2	T	A	18: 61,334,757 (GRCm39)	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,511,406 (GRCm39)	M393L	probably benign	Het
Stx16	A	G	2: 173,932,480 (GRCm39)	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,684,216 (GRCm39)	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,199,088 (GRCm39)	E313G	probably damaging	Het
Tbck	A	G	3: 132,400,207 (GRCm39)	K86R	probably benign	Het
Tom1	A	T	8: 75,781,320 (GRCm39)	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,036,637 (GRCm39)	Y54C	probably damaging	Het
Trim34a	A	T	7: 103,910,398 (GRCm39)	Q400L	probably damaging	Het
Trim42	G	T	9: 97,245,382 (GRCm39)	H473N	probably benign	Het
Tsbp1	T	C	17: 34,637,897 (GRCm39)	S31P	possibly damaging	Het
Tshr	T	A	12: 91,505,009 (GRCm39)	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,202,700 (GRCm39)	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,177 (GRCm39)	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,858,698 (GRCm39)	N622K	probably benign	Het
Wdr93	A	T	7: 79,408,245 (GRCm39)	Q242L	probably benign	Het

Other mutations in Obox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Obox3	APN	7	15,360,777 (GRCm39)	missense	probably benign	0.00
IGL02601:Obox3	APN	7	15,360,848 (GRCm39)	missense	probably damaging	0.99
IGL02978:Obox3	APN	7	15,360,178 (GRCm39)	missense	probably benign	0.11
IGL03088:Obox3	APN	7	15,360,927 (GRCm39)	splice site	probably benign
IGL03178:Obox3	APN	7	15,361,202 (GRCm39)	missense	probably benign	0.12
IGL03219:Obox3	APN	7	15,359,803 (GRCm39)	missense	probably damaging	0.99
IGL03373:Obox3	APN	7	15,359,715 (GRCm39)	missense	probably benign	0.01
R0119:Obox3	UTSW	7	15,360,252 (GRCm39)	critical splice acceptor site	probably null
R1471:Obox3	UTSW	7	15,360,875 (GRCm39)	missense	probably benign	0.01
R3916:Obox3	UTSW	7	15,361,151 (GRCm39)	missense	probably benign	0.00
R4072:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4073:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4075:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4076:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4712:Obox3	UTSW	7	15,360,764 (GRCm39)	missense	probably benign	0.04
R4751:Obox3	UTSW	7	15,359,617 (GRCm39)	critical splice donor site	probably null
R4868:Obox3	UTSW	7	15,361,235 (GRCm39)	missense	probably damaging	1.00
R5151:Obox3	UTSW	7	15,360,173 (GRCm39)	missense	probably damaging	1.00
R5290:Obox3	UTSW	7	15,360,774 (GRCm39)	missense	probably benign	0.03
R5399:Obox3	UTSW	7	15,360,213 (GRCm39)	missense	probably benign	0.00
R5882:Obox3	UTSW	7	15,360,893 (GRCm39)	missense	probably benign	0.17
R6378:Obox3	UTSW	7	15,360,027 (GRCm39)	missense	probably benign	0.00
R7221:Obox3	UTSW	7	15,359,983 (GRCm39)	missense	probably benign	0.01
R7314:Obox3	UTSW	7	15,361,079 (GRCm39)	missense	possibly damaging	0.50
R8124:Obox3	UTSW	7	15,323,874 (GRCm39)	splice site	probably null
R8711:Obox3	UTSW	7	15,360,148 (GRCm39)	missense	probably benign	0.44
R8825:Obox3	UTSW	7	15,361,226 (GRCm39)	missense	possibly damaging	0.94
Z1176:Obox3	UTSW	7	15,360,149 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CCTCAGTGGTGTAAACTGGAGTG -3'
(R):5'- TGACTCGGACAATGGAGAGTC -3'

Sequencing Primer
(F):5'- GGTTTCTCAGAGTAAGCCAGTCATC -3'
(R):5'- AGAGTCCATGTGTTCAGGCAC -3'

Posted On

2017-10-10