Mutagenetix > Incidental Mutation

Incidental Mutation 'R6533:Obox5'

520185

Institutional Source

Beutler Lab

Gene Symbol

Obox5

Ensembl Gene

ENSMUSG00000074366

Gene Name

oocyte specific homeobox 5

Synonyms

MMRRC Submission

044659-MU

Accession Numbers

Essential gene?

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

Stock #

R6533 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15484295-15493199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15491532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 24 (Q24L)

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: Q24L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: Q24L

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: Q24L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
AA Change: Q24L

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: Q24L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
AA Change: Q24L

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,561,628 (GRCm39)		probably benign	Het
4932414N04Rik	G	T	2: 68,546,662 (GRCm39)	E115*	probably null	Het
Abhd16a	G	A	17: 35,317,785 (GRCm39)		probably null	Het
Ankrd28	T	A	14: 31,454,041 (GRCm39)	I244L	possibly damaging	Het
Barx2	T	C	9: 31,824,275 (GRCm39)	Y38C	probably damaging	Het
Btn2a2	C	A	13: 23,665,951 (GRCm39)	E294*	probably null	Het
Ceacam2	C	G	7: 25,230,136 (GRCm39)	V157L	probably benign	Het
Ces2c	T	A	8: 105,578,725 (GRCm39)	F334L	possibly damaging	Het
Col7a1	T	C	9: 108,790,426 (GRCm39)	I958T	unknown	Het
Dcp2	T	A	18: 44,532,731 (GRCm39)	D82E	probably benign	Het
Dnah8	T	C	17: 30,965,964 (GRCm39)	L2432S	probably damaging	Het
Dst	A	G	1: 34,342,590 (GRCm39)	D7582G	probably benign	Het
Fat3	T	A	9: 15,910,195 (GRCm39)	I1936L	probably benign	Het
Gsdmc4	T	A	15: 63,763,909 (GRCm39)	N396I	probably damaging	Het
Lonrf2	A	C	1: 38,852,349 (GRCm39)	D167E	probably benign	Het
Marf1	T	C	16: 13,933,663 (GRCm39)	D1575G	probably benign	Het
Med23	T	C	10: 24,769,518 (GRCm39)	L101P	probably damaging	Het
Myh3	A	G	11: 66,981,245 (GRCm39)	I703V	probably damaging	Het
Ncan	G	A	8: 70,549,007 (GRCm39)	A1257V	probably benign	Het
Nipal4	A	T	11: 46,041,234 (GRCm39)	Y320*	probably null	Het
Orc1	T	C	4: 108,454,644 (GRCm39)	S345P	probably benign	Het
P4hb	A	T	11: 120,462,469 (GRCm39)	I79N	probably damaging	Het
Phf3	A	T	1: 30,845,399 (GRCm39)	I1262N	probably damaging	Het
Pigo	A	T	4: 43,022,697 (GRCm39)	N291K	probably benign	Het
Ppargc1b	C	T	18: 61,440,845 (GRCm39)	R691H	possibly damaging	Het
Ppm1m	T	C	9: 106,074,069 (GRCm39)		probably benign	Het
Ptprd	A	T	4: 76,046,765 (GRCm39)	D500E	probably damaging	Het
Rab3gap2	T	A	1: 184,965,151 (GRCm39)		probably null	Het
Rnf214	A	G	9: 45,811,361 (GRCm39)	S101P	probably benign	Het
Sdhc	A	G	1: 170,957,396 (GRCm39)	S162P	possibly damaging	Het
Spta1	C	T	1: 174,071,713 (GRCm39)	T2231I	probably damaging	Het
Stxbp2	T	A	8: 3,692,683 (GRCm39)	D578E	probably benign	Het
Tacc2	A	T	7: 130,224,567 (GRCm39)	E417D	possibly damaging	Het
Tas2r144	A	T	6: 42,192,280 (GRCm39)	N7Y	probably benign	Het
Tasp1	A	G	2: 139,676,277 (GRCm39)	*421R	probably null	Het
Tigd5	A	G	15: 75,782,039 (GRCm39)	I134V	possibly damaging	Het
Tmem95	A	T	11: 69,768,843 (GRCm39)	M1K	probably null	Het
Trappc10	T	C	10: 78,024,728 (GRCm39)	M1134V	probably damaging	Het
Unc45a	T	G	7: 79,983,817 (GRCm39)	K326N	probably damaging	Het
Vmn1r59	A	G	7: 5,457,463 (GRCm39)	V99A	probably benign	Het
Vmn2r4	T	C	3: 64,322,519 (GRCm39)	T67A	probably benign	Het
Vmn2r85	A	T	10: 130,262,529 (GRCm39)	M70K	probably benign	Het
Zftraf1	C	A	15: 76,531,930 (GRCm39)	E283*	probably null	Het
Zkscan8	A	G	13: 21,704,748 (GRCm39)	F325S	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
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
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'- GGTTCCTGATGGATTCCTGCTC -3'
(R):5'- ATATGGCCCCTTACAGCACC -3'

Sequencing Primer
(F):5'- GATGGATTCCTGCTCCAAAATGTC -3'
(R):5'- ACAGCACCTGGTTTCATTTGGATAC -3'

Posted On

2018-06-06