Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02105:Obox5'

279918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Obox5

Ensembl Gene

ENSMUSG00000074366

Gene Name

oocyte specific homeobox 5

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

15484295-15493199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15492500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 152 (M152V)

Ref Sequence

ENSEMBL: ENSMUSP00000134618 (fasta)

Gene Model

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

AlphaFold

G3X9P6

Predicted Effect

probably benign
Transcript: ENSMUST00000098802
AA Change: M152V

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: M152V

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: ENSMUST00000173053
AA Change: M152V

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
AA Change: M152V

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: M152V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
AA Change: M152V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,587,374 (GRCm39)	P734H	probably damaging	Het
Arfip2	A	T	7: 105,288,590 (GRCm39)	I14N	probably damaging	Het
Asap3	G	T	4: 135,955,785 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,433 (GRCm39)		probably benign	Het
Bbs12	T	C	3: 37,374,296 (GRCm39)	L248P	probably damaging	Het
Brd3	A	T	2: 27,349,788 (GRCm39)	I255N	probably damaging	Het
Ccdc141	A	G	2: 76,879,921 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd9	T	A	8: 91,659,116 (GRCm39)	D25E	probably damaging	Het
Cobl	T	C	11: 12,199,651 (GRCm39)	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,819,178 (GRCm39)	E1486V	unknown	Het
Dock2	T	C	11: 34,605,352 (GRCm39)	N256D	probably damaging	Het
Dpp3	G	A	19: 4,966,799 (GRCm39)	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892 (GRCm39)	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,387,833 (GRCm39)	D35G	probably benign	Het
Fntb	A	G	12: 76,909,263 (GRCm39)	K84E	probably benign	Het
Gfi1	A	G	5: 107,871,588 (GRCm39)		probably null	Het
Glb1l3	T	A	9: 26,729,823 (GRCm39)	I516F	probably damaging	Het
Hltf	A	G	3: 20,146,921 (GRCm39)	N560S	probably damaging	Het
Kif21b	A	G	1: 136,099,041 (GRCm39)	N1443S	probably benign	Het
Knl1	T	A	2: 118,902,289 (GRCm39)	I1330K	probably benign	Het
Krt20	C	T	11: 99,328,827 (GRCm39)	V33M	probably benign	Het
Lao1	A	G	4: 118,825,640 (GRCm39)	T487A	probably damaging	Het
Larp4	A	G	15: 99,883,952 (GRCm39)	E63G	probably damaging	Het
Lrp1	A	G	10: 127,380,448 (GRCm39)	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,775,255 (GRCm39)	I272M	probably benign	Het
Malrd1	A	T	2: 16,132,674 (GRCm39)	Q1865L	unknown	Het
Mtg1	T	C	7: 139,730,119 (GRCm39)	L305P	probably damaging	Het
Mylk4	T	A	13: 32,904,545 (GRCm39)	E427D	probably benign	Het
Myom1	G	T	17: 71,354,711 (GRCm39)		probably benign	Het
Nbeal1	A	G	1: 60,292,660 (GRCm39)	E1104G	probably damaging	Het
Olfm2	C	T	9: 20,583,476 (GRCm39)	V203M	probably damaging	Het
Or2l13	T	G	16: 19,306,011 (GRCm39)	L141R	probably benign	Het
Or8b12c	A	T	9: 37,715,891 (GRCm39)	H228L	possibly damaging	Het
Pf4	A	G	5: 90,921,114 (GRCm39)	S105G	probably damaging	Het
Phlpp2	T	A	8: 110,631,040 (GRCm39)	I228N	probably damaging	Het
Sall1	T	G	8: 89,759,196 (GRCm39)	S303R	probably damaging	Het
Setd5	A	G	6: 113,094,541 (GRCm39)	E486G	probably damaging	Het
Slc9a5	C	T	8: 106,076,075 (GRCm39)	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,040,653 (GRCm39)	I390N	probably damaging	Het
Trp53	T	C	11: 69,479,329 (GRCm39)	V169A	probably damaging	Het
Usp4	A	G	9: 108,262,131 (GRCm39)	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,664,417 (GRCm39)	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,174,308 (GRCm39)		probably benign	Het
Xirp1	C	T	9: 119,846,063 (GRCm39)	G940E	probably damaging	Het
Zfp407	A	T	18: 84,580,845 (GRCm39)	C89*	probably null	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
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
R0467:Obox5	UTSW	7	15,491,932 (GRCm39)	missense	possibly damaging	0.73
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

Posted On

2015-04-16