Mutagenetix > Incidental Mutation

Incidental Mutation 'R3711:Obox5'

259605

Institutional Source

Beutler Lab

Gene Symbol

Obox5

Ensembl Gene

ENSMUSG00000074366

Gene Name

oocyte specific homeobox 5

Synonyms

MMRRC Submission

040704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R3711 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15484295-15493199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15492713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 223 (M223L)

Ref Sequence

ENSEMBL: ENSMUSP00000096400 (fasta)

Gene Model

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

AlphaFold

G3X9P6

Predicted Effect

probably benign
Transcript: ENSMUST00000098802
AA Change: M223L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: M223L

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

SMART Domains

Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366

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

SMART Domains

Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,837,081 (GRCm39)	V1138A	possibly damaging	Het
Adgrv1	A	T	13: 81,567,594 (GRCm39)	I5193K	probably benign	Het
Adnp	A	T	2: 168,026,743 (GRCm39)	I184N	probably damaging	Het
Ahnak	T	G	19: 8,985,262 (GRCm39)	V2182G	probably benign	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Aspm	G	A	1: 139,385,838 (GRCm39)	G494D	probably benign	Het
Atic	T	A	1: 71,617,738 (GRCm39)	S563T	probably benign	Het
Bahcc1	A	T	11: 120,165,923 (GRCm39)	I1060F	probably benign	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Dnm2	C	A	9: 21,417,669 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,721,395 (GRCm39)	T345A	probably benign	Het
Fbf1	T	C	11: 116,052,299 (GRCm39)	H53R	possibly damaging	Het
Fbf1	A	G	11: 116,054,179 (GRCm39)	I29T	probably damaging	Het
Gm14399	G	A	2: 174,973,303 (GRCm39)	R151*	probably null	Het
Gsdma	T	A	11: 98,557,045 (GRCm39)	Y53*	probably null	Het
Hid1	A	T	11: 115,249,601 (GRCm39)	L208Q	probably damaging	Het
Kif4-ps	A	G	12: 101,112,312 (GRCm39)	E147G	probably damaging	Het
Kif7	A	T	7: 79,360,640 (GRCm39)	V245D	probably benign	Het
Klhdc4	A	G	8: 122,524,794 (GRCm39)	V378A	probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mast3	C	A	8: 71,232,251 (GRCm39)	R1242L	probably benign	Het
Mon1b	T	C	8: 114,365,779 (GRCm39)	M369T	possibly damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Narf	G	T	11: 121,137,764 (GRCm39)	E224*	probably null	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nmnat3	T	A	9: 98,292,276 (GRCm39)	Y108N	probably damaging	Het
Npr2	A	T	4: 43,643,378 (GRCm39)	Y534F	probably benign	Het
Optc	A	T	1: 133,832,819 (GRCm39)	S94T	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or1l4	A	G	2: 37,091,285 (GRCm39)	T11A	probably benign	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Or8w1	T	C	2: 87,466,025 (GRCm39)	D22G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Stab2	A	G	10: 86,702,572 (GRCm39)	L423P	probably damaging	Het
Sun5	A	G	2: 153,709,468 (GRCm39)	V74A	probably benign	Het
Tanc2	A	G	11: 105,689,516 (GRCm39)	Y226C	probably damaging	Het
Tlr6	T	C	5: 65,111,152 (GRCm39)	D585G	possibly damaging	Het
Tmt1a3	A	T	15: 100,232,961 (GRCm39)	M51L	probably benign	Het
Tnrc6c	A	G	11: 117,613,950 (GRCm39)	T863A	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Ythdc2	C	T	18: 44,966,240 (GRCm39)	L159F	probably damaging	Het
Zc3h6	A	G	2: 128,859,251 (GRCm39)	N1094S	probably benign	Het
Zdbf2	T	C	1: 63,347,830 (GRCm39)	S2070P	possibly damaging	Het
Zfp648	T	A	1: 154,080,304 (GRCm39)	S154R	probably benign	Het
Zfp748	A	G	13: 67,688,915 (GRCm39)	C782R	probably damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably 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
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
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'- TTAAACAAGCACTGCCAGAGTC -3'
(R):5'- AGTCTTCAAGGATCCTTTGCC -3'

Sequencing Primer
(F):5'- GCACTGCCAGAGTCAAATGGAATC -3'
(R):5'- AAGGATCCTTTGCCAGAGCTC -3'

Posted On

2015-01-23