Mutagenetix > Incidental Mutation

Incidental Mutation 'R0467:Obox5'

41689

Institutional Source

Beutler Lab

Gene Symbol

Obox5

Ensembl Gene

ENSMUSG00000074366

Gene Name

oocyte specific homeobox 5

Synonyms

MMRRC Submission

038667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R0467 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15484295-15493199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15491932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 116 (C116S)

Ref Sequence

ENSEMBL: ENSMUSP00000134618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098802] [ENSMUST00000173053] [ENSMUST00000173455]

AlphaFold

G3X9P6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098802
AA Change: C116S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: C116S

Domain	Start	End	E-Value	Type
low complexity region	62	74	N/A	INTRINSIC
HOX	94	156	2e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173053
AA Change: C116S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
AA Change: C116S

Domain	Start	End	E-Value	Type
low complexity region	62	74	N/A	INTRINSIC
HOX	94	156	2e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173455
AA Change: C116S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
AA Change: C116S

Domain	Start	End	E-Value	Type
low complexity region	62	74	N/A	INTRINSIC
HOX	94	156	2e-17	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,532,151 (GRCm39)		probably benign	Het
Anapc1	A	G	2: 128,510,963 (GRCm39)	I511T	probably damaging	Het
Atf6	A	T	1: 170,621,589 (GRCm39)	H477Q	probably damaging	Het
C4b	A	G	17: 34,955,101 (GRCm39)	V795A	probably benign	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdk12	T	C	11: 98,094,405 (GRCm39)	V71A	probably damaging	Het
Cul3	A	T	1: 80,258,580 (GRCm39)	D419E	probably benign	Het
Ddi2	A	G	4: 141,412,495 (GRCm39)	I139T	probably benign	Het
Dnaaf1	T	A	8: 120,317,471 (GRCm39)	D333E	probably benign	Het
Dnase1	A	G	16: 3,857,013 (GRCm39)	D7G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Galc	A	C	12: 98,208,904 (GRCm39)	I250R	probably damaging	Het
Garin1b	G	A	6: 29,326,606 (GRCm39)	S241N	probably damaging	Het
Gcfc2	T	C	6: 81,900,863 (GRCm39)	V59A	possibly damaging	Het
Gm6133	A	C	18: 78,393,305 (GRCm39)	S100R	probably benign	Het
Iba57	T	C	11: 59,054,265 (GRCm39)	T85A	probably benign	Het
Ipo4	A	T	14: 55,872,983 (GRCm39)	M1K	probably null	Het
Ippk	A	G	13: 49,584,341 (GRCm39)		probably null	Het
Kcnk10	A	T	12: 98,456,204 (GRCm39)	I209N	probably benign	Het
Klk14	T	C	7: 43,343,534 (GRCm39)	L122P	probably benign	Het
Ltbp1	T	A	17: 75,589,424 (GRCm39)		probably null	Het
Mab21l4	A	T	1: 93,080,766 (GRCm39)	I380N	probably damaging	Het
Mcm3	T	C	1: 20,875,071 (GRCm39)	D737G	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nalcn	T	A	14: 123,528,459 (GRCm39)	T1456S	probably benign	Het
Nckap1l	C	T	15: 103,405,854 (GRCm39)	P1097S	probably benign	Het
Ncoa1	A	G	12: 4,317,687 (GRCm39)	M1215T	possibly damaging	Het
Nomo1	T	A	7: 45,721,911 (GRCm39)		probably null	Het
Or2ag2b	T	A	7: 106,417,568 (GRCm39)	S93T	possibly damaging	Het
Or51a43	C	T	7: 103,717,332 (GRCm39)	R302H	probably benign	Het
Or5a1	C	A	19: 12,097,900 (GRCm39)	A59S	probably benign	Het
Pcdhb14	G	T	18: 37,582,277 (GRCm39)	R461L	probably damaging	Het
Pdgfra	A	G	5: 75,355,697 (GRCm39)	D1069G	probably damaging	Het
Pgr	C	T	9: 8,900,779 (GRCm39)	A104V	possibly damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Potegl	A	G	2: 23,102,832 (GRCm39)	E190G	possibly damaging	Het
Rassf3	A	G	10: 121,253,109 (GRCm39)		probably benign	Het
Rgs22	G	T	15: 36,099,941 (GRCm39)	S258*	probably null	Het
Rsph6a	C	A	7: 18,791,594 (GRCm39)	D254E	possibly damaging	Het
Sgk1	A	G	10: 21,872,257 (GRCm39)		probably benign	Het
Shcbp1l	G	A	1: 153,308,928 (GRCm39)	C174Y	probably damaging	Het
Spata31g1	T	C	4: 42,972,715 (GRCm39)	S683P	probably benign	Het
Sulf1	T	A	1: 12,867,144 (GRCm39)	N109K	probably damaging	Het
Taf7l2	G	A	10: 115,949,058 (GRCm39)	A156V	probably benign	Het
Tas2r115	T	A	6: 132,714,682 (GRCm39)	I90L	probably benign	Het
Tmem200a	T	C	10: 25,870,002 (GRCm39)	H89R	probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Xrn1	T	C	9: 95,906,244 (GRCm39)	S1212P	probably damaging	Het
Zfp408	T	C	2: 91,475,882 (GRCm39)	Y424C	possibly damaging	Het

Other mutations in Obox5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Obox5	APN	7	15,492,516 (GRCm39)	missense	possibly damaging	0.73
IGL02105:Obox5	APN	7	15,492,500 (GRCm39)	missense	probably benign	0.10
IGL02590:Obox5	APN	7	15,491,517 (GRCm39)	missense	possibly damaging	0.51
IGL02642:Obox5	APN	7	15,491,972 (GRCm39)	missense	probably benign	0.01
IGL02700:Obox5	APN	7	15,492,888 (GRCm39)	missense	possibly damaging	0.70
IGL03129:Obox5	APN	7	15,492,684 (GRCm39)	missense	probably damaging	0.99
R0312:Obox5	UTSW	7	15,491,485 (GRCm39)	missense	probably damaging	0.98
R0463:Obox5	UTSW	7	15,491,571 (GRCm39)	missense	probably damaging	0.99
R0899:Obox5	UTSW	7	15,492,800 (GRCm39)	missense	probably benign	0.04
R1574:Obox5	UTSW	7	15,492,558 (GRCm39)	missense	probably damaging	0.99
R1574:Obox5	UTSW	7	15,492,558 (GRCm39)	missense	probably damaging	0.99
R2017:Obox5	UTSW	7	15,492,807 (GRCm39)	missense	probably benign	0.02
R3711:Obox5	UTSW	7	15,492,713 (GRCm39)	missense	probably benign	0.33
R4391:Obox5	UTSW	7	15,491,899 (GRCm39)	nonsense	probably null
R5217:Obox5	UTSW	7	15,491,793 (GRCm39)	splice site	probably null
R5357:Obox5	UTSW	7	15,491,463 (GRCm39)	start codon destroyed	probably null	0.94
R5424:Obox5	UTSW	7	15,492,807 (GRCm39)	missense	probably benign	0.09
R5559:Obox5	UTSW	7	15,491,522 (GRCm39)	missense	probably benign	0.19
R6533:Obox5	UTSW	7	15,491,532 (GRCm39)	missense	probably benign	0.14
R7021:Obox5	UTSW	7	15,491,681 (GRCm39)	splice site	probably null
R7097:Obox5	UTSW	7	15,492,732 (GRCm39)	missense	probably damaging	0.99
R7122:Obox5	UTSW	7	15,492,732 (GRCm39)	missense	probably damaging	0.99
R7180:Obox5	UTSW	7	15,491,849 (GRCm39)	missense	probably benign	0.00
R7395:Obox5	UTSW	7	15,492,668 (GRCm39)	missense	probably damaging	1.00
R7398:Obox5	UTSW	7	15,492,713 (GRCm39)	missense	probably benign	0.33
R8111:Obox5	UTSW	7	15,492,541 (GRCm39)	missense	probably damaging	1.00
R9277:Obox5	UTSW	7	15,491,877 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGACCCCAGGAAGTACAATGCAATC -3'
(R):5'- GTCACCAGGAGAAAGCATGAGACTC -3'

Sequencing Primer
(F):5'- AGGGGCCATATTTACCAACTCTG -3'
(R):5'- acaaacaaacaaacaaacaaacaaac -3'

Posted On

2013-05-23