Incidental Mutation 'R4712:Obox3'
| ID |
353310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox3
|
| Ensembl Gene |
ENSMUSG00000066772 |
| Gene Name |
oocyte specific homeobox 3 |
| Synonyms |
Ohx |
| MMRRC Submission |
041981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4712 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15360764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 125
(V125A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134531
(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: V125A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095217
AA Change: V125A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173395
AA Change: V125A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173912
AA Change: V125A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174151
AA Change: V125A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174443
AA Change: V125A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174842
AA Change: V125A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
AA Change: V125A
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
T |
15: 83,111,810 (GRCm39) |
N324K |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,574,547 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,641,382 (GRCm39) |
N343K |
probably benign |
Het |
| Batf2 |
C |
A |
19: 6,221,357 (GRCm39) |
Q56K |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,274 (GRCm39) |
V691D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,904,922 (GRCm39) |
Y257C |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,228,051 (GRCm39) |
L290Q |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,407,416 (GRCm39) |
T456S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,001,995 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,758,697 (GRCm39) |
K313R |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,160,305 (GRCm39) |
N1500K |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,183,236 (GRCm39) |
T1748A |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,163,377 (GRCm39) |
L87H |
probably damaging |
Het |
| Gfral |
T |
A |
9: 76,100,727 (GRCm39) |
Y237F |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,974 (GRCm39) |
N361D |
probably benign |
Het |
| Gsdmc |
G |
T |
15: 63,651,386 (GRCm39) |
T272N |
probably benign |
Het |
| Hspe1 |
T |
A |
1: 55,128,269 (GRCm39) |
S21R |
probably benign |
Het |
| Kctd16 |
G |
T |
18: 40,390,233 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,868,958 (GRCm39) |
I483N |
probably damaging |
Het |
| Kif4-ps |
T |
C |
12: 101,112,534 (GRCm39) |
|
noncoding transcript |
Het |
| Lpp |
T |
C |
16: 24,580,407 (GRCm39) |
V166A |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,336,895 (GRCm39) |
D1292E |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,250,575 (GRCm39) |
Y401H |
probably damaging |
Het |
| Msh2 |
T |
G |
17: 87,985,813 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,930,757 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,235,660 (GRCm39) |
Q598L |
probably damaging |
Het |
| Or1n1 |
A |
T |
2: 36,750,381 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,591 (GRCm39) |
L185* |
probably null |
Het |
| Or9k7 |
G |
A |
10: 130,046,291 (GRCm39) |
T236I |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,126,067 (GRCm39) |
L34F |
probably damaging |
Het |
| Pcdha3 |
A |
T |
18: 37,079,560 (GRCm39) |
I101F |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,675 (GRCm39) |
E238G |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,258,994 (GRCm39) |
N1131K |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,060 (GRCm39) |
S99R |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,617 (GRCm39) |
R332C |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,682,615 (GRCm39) |
S1116P |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,037,160 (GRCm39) |
D88G |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,379,394 (GRCm39) |
E432G |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,814,793 (GRCm39) |
T451A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Siva1 |
T |
A |
12: 112,613,336 (GRCm39) |
D61E |
probably benign |
Het |
| Skor1 |
A |
C |
9: 63,046,855 (GRCm39) |
|
probably null |
Het |
| Slc20a1 |
A |
G |
2: 129,041,611 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,252,926 (GRCm39) |
E522G |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,511,123 (GRCm39) |
I85N |
probably damaging |
Het |
| Tpx2 |
T |
A |
2: 152,726,958 (GRCm39) |
D408E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,073,436 (GRCm39) |
I551N |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,982,324 (GRCm39) |
|
probably null |
Het |
| Zfp101 |
C |
A |
17: 33,613,457 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R5290:Obox3
|
UTSW |
7 |
15,360,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCATCCAAGTCATTAGATACCTTCAAG -3'
Sequencing Primer
(F):5'- ACATCAATATCCACCACCTATATTTG -3'
(R):5'- AGATACCTTCAAGATCCTCAGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation