Mutagenetix > Incidental Mutation

Incidental Mutation 'R1527:Obox1'

166287

Institutional Source

Beutler Lab

Gene Symbol

Obox1

Ensembl Gene

ENSMUSG00000054310

Gene Name

oocyte specific homeobox 1

Synonyms

7420700M11Rik

MMRRC Submission

039567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15281182-15290771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15289250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 55 (V55A)

Ref Sequence

ENSEMBL: ENSMUSP00000138010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067288] [ENSMUST00000086122] [ENSMUST00000172463] [ENSMUST00000172881] [ENSMUST00000173245] [ENSMUST00000173443] [ENSMUST00000181001]

AlphaFold

Q9D350

Predicted Effect

probably damaging
Transcript: ENSMUST00000067288
AA Change: V55A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067691
Gene: ENSMUSG00000054310
AA Change: V55A

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086122

SMART Domains

Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172463
AA Change: V55A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133504
Gene: ENSMUSG00000054310
AA Change: V55A

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172881
AA Change: V55A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134688
Gene: ENSMUSG00000054310
AA Change: V55A

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173245
AA Change: V55A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133496
Gene: ENSMUSG00000054310
AA Change: V55A

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173443
AA Change: V55A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134043
Gene: ENSMUSG00000054310
AA Change: V55A

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000181001
AA Change: V55A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310
AA Change: V55A

Domain	Start	End	E-Value	Type
HOX	94	156	2.18e-18	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	A	19: 21,575,633 (GRCm39)	C130F	probably damaging	Het
4933402N03Rik	T	C	7: 130,740,589 (GRCm39)	D209G	probably benign	Het
Adam7	A	G	14: 68,738,970 (GRCm39)	V744A	probably benign	Het
Atr	G	T	9: 95,752,096 (GRCm39)	R571I	possibly damaging	Het
C5ar1	A	G	7: 15,982,118 (GRCm39)	Y301H	probably damaging	Het
Cacna1d	A	G	14: 29,829,753 (GRCm39)	I954T	probably damaging	Het
Ccdc157	A	G	11: 4,101,795 (GRCm39)	F42S	probably damaging	Het
Cfap251	T	C	5: 123,425,408 (GRCm39)	V789A	probably benign	Het
Chd2	A	T	7: 73,140,362 (GRCm39)	L622*	probably null	Het
Csmd3	T	C	15: 47,811,483 (GRCm39)	T1203A	probably benign	Het
Cxcl17	A	G	7: 25,101,636 (GRCm39)	V67A	possibly damaging	Het
Ddx4	T	C	13: 112,758,773 (GRCm39)	T263A	possibly damaging	Het
Eps8l1	A	G	7: 4,474,393 (GRCm39)	D288G	probably benign	Het
Fbxl4	A	G	4: 22,386,154 (GRCm39)	K254E	probably benign	Het
Glis1	T	C	4: 107,425,123 (GRCm39)	S245P	probably damaging	Het
Gm11111	T	C	5: 98,701,387 (GRCm39)		probably benign	Het
Haus3	A	T	5: 34,311,397 (GRCm39)	H544Q	probably benign	Het
Hmcn1	A	G	1: 150,649,554 (GRCm39)	V644A	probably benign	Het
Lmo7	T	C	14: 102,114,264 (GRCm39)	L2P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mga	A	G	2: 119,747,078 (GRCm39)	T410A	probably damaging	Het
Mical3	T	C	6: 121,001,740 (GRCm39)	D584G	probably damaging	Het
Miga1	A	T	3: 152,023,300 (GRCm39)	F250L	possibly damaging	Het
Mroh1	A	G	15: 76,336,463 (GRCm39)	D1553G	probably benign	Het
Myof	T	C	19: 37,913,067 (GRCm39)	Y1462C	probably damaging	Het
Notch4	T	C	17: 34,784,718 (GRCm39)	C144R	probably damaging	Het
Or14j8	T	A	17: 38,263,720 (GRCm39)	H65L	possibly damaging	Het
Or4a69	C	T	2: 89,312,876 (GRCm39)	G201D	probably benign	Het
Or6c69c	T	A	10: 129,911,061 (GRCm39)	S261T	probably damaging	Het
Pclo	T	C	5: 14,729,662 (GRCm39)		probably benign	Het
Prr14l	C	T	5: 32,985,293 (GRCm39)	V1401I	possibly damaging	Het
Rad51ap1	T	C	6: 126,905,130 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,698,818 (GRCm39)	V1105D	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgsm2	A	T	11: 74,744,674 (GRCm39)	C848*	probably null	Het
Slc39a10	A	T	1: 46,858,422 (GRCm39)	V625E	probably benign	Het
Spry4	C	T	18: 38,723,630 (GRCm39)	M44I	probably benign	Het
Stat5b	A	T	11: 100,699,220 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,070 (GRCm39)	I201T	probably benign	Het
Tasor	T	C	14: 27,202,050 (GRCm39)		probably null	Het
Tex44	A	G	1: 86,355,368 (GRCm39)	T426A	probably benign	Het
Tln2	T	C	9: 67,179,950 (GRCm39)	D807G	possibly damaging	Het
Tlr9	A	G	9: 106,100,949 (GRCm39)	N80S	probably benign	Het
Trpm7	A	C	2: 126,672,082 (GRCm39)	H579Q	probably benign	Het
Ufd1	T	C	16: 18,633,661 (GRCm39)	S29P	probably damaging	Het
Ugt2a3	G	T	5: 87,473,457 (GRCm39)	Q487K	probably damaging	Het
Zfyve9	A	G	4: 108,552,964 (GRCm39)		probably null	Het

Other mutations in Obox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0420:Obox1	UTSW	7	15,290,178 (GRCm39)	missense	possibly damaging	0.90
R1374:Obox1	UTSW	7	15,289,426 (GRCm39)	splice site	probably benign
R1984:Obox1	UTSW	7	15,289,135 (GRCm39)	missense	probably benign	0.18
R4585:Obox1	UTSW	7	15,290,152 (GRCm39)	missense	possibly damaging	0.66
R4586:Obox1	UTSW	7	15,290,152 (GRCm39)	missense	possibly damaging	0.66
R4680:Obox1	UTSW	7	15,290,089 (GRCm39)	missense	probably damaging	1.00
R4883:Obox1	UTSW	7	15,290,263 (GRCm39)	missense	probably damaging	1.00
R5742:Obox1	UTSW	7	15,289,430 (GRCm39)	missense	possibly damaging	0.73
R6331:Obox1	UTSW	7	15,289,294 (GRCm39)	missense	probably benign	0.00
R6596:Obox1	UTSW	7	15,289,301 (GRCm39)	missense	probably damaging	1.00
R7442:Obox1	UTSW	7	15,289,491 (GRCm39)	missense	probably benign	0.00
R7919:Obox1	UTSW	7	15,290,256 (GRCm39)	nonsense	probably null
R7946:Obox1	UTSW	7	15,289,456 (GRCm39)	missense	probably benign	0.38
R8275:Obox1	UTSW	7	15,290,153 (GRCm39)	missense	probably damaging	1.00
R8447:Obox1	UTSW	7	15,289,541 (GRCm39)	missense	probably damaging	0.99
R9618:Obox1	UTSW	7	15,289,624 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CACAACACATGCTGAGTAGGTGGG -3'
(R):5'- CTTGAAGCCATTGGGCCAGTTTG -3'

Sequencing Primer
(F):5'- TCAGGTTATCCAGTACAGGAAC -3'
(R):5'- ATTTATCTGACAGTAGCATACAACC -3'

Posted On

2014-04-13