Mutagenetix > Incidental Mutation

Incidental Mutation 'R5290:Obox3'

424652

Institutional Source

Beutler Lab

Gene Symbol

Obox3

Ensembl Gene

ENSMUSG00000066772

Gene Name

oocyte specific homeobox 3

Synonyms

Ohx

MMRRC Submission

042873-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R5290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15359231-15373702 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15360774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 122 (K122E)

Ref Sequence

ENSEMBL: ENSMUSP00000134526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086122] [ENSMUST00000095217] [ENSMUST00000173395] [ENSMUST00000173912] [ENSMUST00000174151] [ENSMUST00000174443] [ENSMUST00000174842]

AlphaFold

Q3UT54

Predicted Effect

probably benign
Transcript: ENSMUST00000086122
AA Change: K122E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: K122E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000095217
AA Change: K122E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: K122E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173395
AA Change: K122E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: K122E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173912
AA Change: K122E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: K122E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174151
AA Change: K122E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: K122E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174443
AA Change: K122E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: K122E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174842
AA Change: K122E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: K122E

Domain	Start	End	E-Value	Type
HOX	94	151	1.46e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182148

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008E08Rik	A	T	16: 90,351,098 (GRCm39)		noncoding transcript	Het
2700049A03Rik	C	A	12: 71,235,565 (GRCm39)	P1172T	probably benign	Het
Abi3bp	T	A	16: 56,462,838 (GRCm39)		probably null	Het
Apod	T	A	16: 31,129,884 (GRCm39)	H24L	probably damaging	Het
Arfgef3	T	C	10: 18,476,208 (GRCm39)	E1537G	probably damaging	Het
B020004C17Rik	T	C	14: 57,254,036 (GRCm39)	V53A	possibly damaging	Het
Ccdc113	C	A	8: 96,267,424 (GRCm39)		probably null	Het
Cd7	T	G	11: 120,928,936 (GRCm39)	D105A	probably damaging	Het
Celsr3	C	T	9: 108,720,357 (GRCm39)	T2550M	probably benign	Het
Cibar1	T	C	4: 12,171,195 (GRCm39)	Q86R	probably benign	Het
Col6a5	C	T	9: 105,823,282 (GRCm39)	G25D	unknown	Het
Cps1	A	G	1: 67,211,868 (GRCm39)	M679V	probably benign	Het
Dnai4	A	T	4: 102,906,730 (GRCm39)	D694E	probably benign	Het
Dync1h1	A	T	12: 110,581,502 (GRCm39)	T316S	probably benign	Het
Edrf1	T	C	7: 133,252,295 (GRCm39)	Y449H	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Flg2	A	T	3: 93,127,873 (GRCm39)	I2262L	unknown	Het
Flnc	T	C	6: 29,457,553 (GRCm39)	L2417P	probably damaging	Het
Gabrp	A	T	11: 33,517,310 (GRCm39)	Y121N	probably damaging	Het
Gdpd4	A	G	7: 97,615,543 (GRCm39)	T123A	possibly damaging	Het
Gpr162	C	A	6: 124,838,232 (GRCm39)	M139I	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gsn	G	A	2: 35,186,484 (GRCm39)	S410N	probably benign	Het
Gtf2f2	T	C	14: 76,135,089 (GRCm39)	Y212C	probably damaging	Het
Hao2	C	T	3: 98,784,493 (GRCm39)	A291T	probably damaging	Het
Igkv1-133	A	G	6: 67,702,563 (GRCm39)	T94A	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,923 (GRCm39)	A188T	possibly damaging	Het
Itpr1	T	C	6: 108,383,106 (GRCm39)	V1478A	possibly damaging	Het
Kdm5b	T	C	1: 134,549,837 (GRCm39)		probably null	Het
Kif5b	A	T	18: 6,234,882 (GRCm39)	D49E	probably damaging	Het
Lmbr1l	A	G	15: 98,810,123 (GRCm39)	W113R	probably damaging	Het
Lrp2	T	C	2: 69,343,698 (GRCm39)	D887G	probably damaging	Het
Lrrc14	T	A	15: 76,598,143 (GRCm39)	M291K	probably benign	Het
Lypd11	T	C	7: 24,422,836 (GRCm39)	E79G	probably benign	Het
Mgarp	G	A	3: 51,296,387 (GRCm39)	A205V	possibly damaging	Het
Msl2	T	C	9: 100,978,606 (GRCm39)		probably null	Het
Nfix	G	A	8: 85,440,406 (GRCm39)	Q487*	probably null	Het
Notch4	T	C	17: 34,784,263 (GRCm39)	V22A	probably benign	Het
Npc1l1	T	A	11: 6,172,221 (GRCm39)	Q823L	probably benign	Het
Or10ab5	C	T	7: 108,245,755 (GRCm39)	M9I	probably benign	Het
Or2a12	A	G	6: 42,904,972 (GRCm39)	K269R	probably damaging	Het
Or8s10	T	C	15: 98,336,213 (GRCm39)	Y288H	probably damaging	Het
Plekhh3	T	A	11: 101,057,397 (GRCm39)	M287L	possibly damaging	Het
Prpf3	A	T	3: 95,760,857 (GRCm39)	I15K	probably benign	Het
Rpl12-ps1	G	T	1: 36,997,423 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Setd2	T	C	9: 110,446,899 (GRCm39)	V2489A	probably damaging	Het
Slfn10-ps	T	A	11: 82,919,851 (GRCm39)		noncoding transcript	Het
Smad2	C	T	18: 76,395,795 (GRCm39)	P78L	probably damaging	Het
Spen	G	A	4: 141,201,127 (GRCm39)	T2500I	probably damaging	Het
Stmnd1	A	G	13: 46,453,074 (GRCm39)	D250G	probably benign	Het
Tjp2	T	G	19: 24,108,568 (GRCm39)	E181D	probably benign	Het
Tmem131l	T	C	3: 83,806,572 (GRCm39)	D1478G	probably benign	Het
Trim72	G	T	7: 127,609,176 (GRCm39)	R326L	probably benign	Het
Ttn	A	T	2: 76,727,584 (GRCm39)		probably benign	Het
Vmn1r177	A	T	7: 23,565,498 (GRCm39)	M126K	probably damaging	Het
Vmn1r57	A	G	7: 5,224,319 (GRCm39)	I281M	probably damaging	Het
Vmn2r108	C	A	17: 20,691,665 (GRCm39)	R286L	probably benign	Het
Wdr25	T	C	12: 108,863,968 (GRCm39)	S38P	probably benign	Het
Zfp937	T	A	2: 150,080,229 (GRCm39)	Y86*	probably null	Het
Zfr2	CTCAGACTGGTGTCAGAC	CTCAGAC	10: 81,082,544 (GRCm39)		probably null	Het
Zswim1	C	T	2: 164,667,845 (GRCm39)	H366Y	probably damaging	Het

Other mutations in Obox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01943:Obox3	APN	7	15,360,777 (GRCm39)	missense	probably benign	0.00
IGL02601:Obox3	APN	7	15,360,848 (GRCm39)	missense	probably damaging	0.99
IGL02978:Obox3	APN	7	15,360,178 (GRCm39)	missense	probably benign	0.11
IGL03088:Obox3	APN	7	15,360,927 (GRCm39)	splice site	probably benign
IGL03178:Obox3	APN	7	15,361,202 (GRCm39)	missense	probably benign	0.12
IGL03219:Obox3	APN	7	15,359,803 (GRCm39)	missense	probably damaging	0.99
IGL03373:Obox3	APN	7	15,359,715 (GRCm39)	missense	probably benign	0.01
R0119:Obox3	UTSW	7	15,360,252 (GRCm39)	critical splice acceptor site	probably null
R1471:Obox3	UTSW	7	15,360,875 (GRCm39)	missense	probably benign	0.01
R3916:Obox3	UTSW	7	15,361,151 (GRCm39)	missense	probably benign	0.00
R4072:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4073:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4075:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4076:Obox3	UTSW	7	15,359,724 (GRCm39)	missense	possibly damaging	0.92
R4712:Obox3	UTSW	7	15,360,764 (GRCm39)	missense	probably benign	0.04
R4751:Obox3	UTSW	7	15,359,617 (GRCm39)	critical splice donor site	probably null
R4868:Obox3	UTSW	7	15,361,235 (GRCm39)	missense	probably damaging	1.00
R5151:Obox3	UTSW	7	15,360,173 (GRCm39)	missense	probably damaging	1.00
R5399:Obox3	UTSW	7	15,360,213 (GRCm39)	missense	probably benign	0.00
R5882:Obox3	UTSW	7	15,360,893 (GRCm39)	missense	probably benign	0.17
R6147:Obox3	UTSW	7	15,359,926 (GRCm39)	missense	probably damaging	0.99
R6378:Obox3	UTSW	7	15,360,027 (GRCm39)	missense	probably benign	0.00
R7221:Obox3	UTSW	7	15,359,983 (GRCm39)	missense	probably benign	0.01
R7314:Obox3	UTSW	7	15,361,079 (GRCm39)	missense	possibly damaging	0.50
R8124:Obox3	UTSW	7	15,323,874 (GRCm39)	splice site	probably null
R8711:Obox3	UTSW	7	15,360,148 (GRCm39)	missense	probably benign	0.44
R8825:Obox3	UTSW	7	15,361,226 (GRCm39)	missense	possibly damaging	0.94
Z1176:Obox3	UTSW	7	15,360,149 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGAGGCCCAGCAATGGATAC -3'
(R):5'- GCATCCAAGTCATTAGATACCTTC -3'

Sequencing Primer
(F):5'- ACATCAATATCCACCACCTATATTTG -3'
(R):5'- AGATACCTTCAAGATCCTCAGTG -3'

Posted On

2016-08-04