Incidental Mutation 'R4391:Obox5'
| ID |
326363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox5
|
| Ensembl Gene |
ENSMUSG00000074366 |
| Gene Name |
oocyte specific homeobox 5 |
| Synonyms |
|
| MMRRC Submission |
041682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4391 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15484295-15493199 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 15491899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 105
(Q105*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098802]
[ENSMUST00000173053]
[ENSMUST00000173455]
|
| AlphaFold |
G3X9P6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098802
AA Change: Q105*
|
| SMART Domains |
Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: Q105*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
HOX
|
94 |
156 |
2e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173053
AA Change: Q105*
|
| SMART Domains |
Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
AA Change: Q105*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
HOX
|
94 |
156 |
2e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173455
AA Change: Q105*
|
| SMART Domains |
Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
AA Change: Q105*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
HOX
|
94 |
156 |
2e-17 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.6%
- 10x: 96.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
A |
T |
12: 31,234,622 (GRCm39) |
|
noncoding transcript |
Het |
| Actn2 |
C |
T |
13: 12,305,634 (GRCm39) |
R394Q |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,687,842 (GRCm39) |
D62G |
probably damaging |
Het |
| Atp2b1 |
A |
G |
10: 98,839,076 (GRCm39) |
T635A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Dnah1 |
G |
A |
14: 31,016,792 (GRCm39) |
T1575I |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
| Dnajc12 |
A |
G |
10: 63,242,838 (GRCm39) |
T37A |
probably benign |
Het |
| Efcab5 |
T |
A |
11: 76,981,284 (GRCm39) |
N1354I |
probably damaging |
Het |
| Epas1 |
T |
C |
17: 87,117,091 (GRCm39) |
L218P |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,397,300 (GRCm39) |
|
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,391,155 (GRCm39) |
S581* |
probably null |
Het |
| Focad |
T |
A |
4: 88,104,195 (GRCm39) |
I358K |
probably damaging |
Het |
| Gm382 |
T |
A |
X: 125,968,942 (GRCm39) |
S376T |
probably benign |
Het |
| Gpsm1 |
C |
T |
2: 26,214,009 (GRCm39) |
R179C |
probably damaging |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Krt39 |
C |
T |
11: 99,405,578 (GRCm39) |
A441T |
probably benign |
Het |
| Nrdc |
T |
A |
4: 108,903,841 (GRCm39) |
N662K |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,793 (GRCm39) |
M43K |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,722,841 (GRCm39) |
V287D |
possibly damaging |
Het |
| Or8c13 |
A |
T |
9: 38,091,645 (GRCm39) |
V158D |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,789 (GRCm39) |
L723Q |
possibly damaging |
Het |
| Pou3f3 |
G |
T |
1: 42,736,618 (GRCm39) |
A105S |
unknown |
Het |
| Ppp1r3d |
C |
T |
2: 178,055,880 (GRCm39) |
D41N |
probably damaging |
Het |
| Ppp4r1 |
A |
G |
17: 66,131,749 (GRCm39) |
N497S |
probably benign |
Het |
| Rad54b |
T |
G |
4: 11,615,570 (GRCm39) |
N859K |
probably benign |
Het |
| Sh3bp2 |
C |
T |
5: 34,707,062 (GRCm39) |
S29L |
probably benign |
Het |
| Smarcad1 |
A |
T |
6: 65,033,443 (GRCm39) |
N142I |
probably benign |
Het |
| Sp140l1 |
G |
A |
1: 85,062,852 (GRCm39) |
|
probably benign |
Het |
| Stat3 |
G |
A |
11: 100,796,378 (GRCm39) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 180,950,576 (GRCm39) |
R77G |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Xlr3a |
T |
C |
X: 72,135,450 (GRCm39) |
I87V |
possibly 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 |
|
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'- TGCTGTAAGGGGCCATATTTACC -3'
(R):5'- CCTCCCCTAAGCCTTTCAGAAG -3'
Sequencing Primer
(F):5'- GGGGCCATATTTACCAACTCTGAG -3'
(R):5'- TTTCAGAAGCACACAATACAAGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation