Incidental Mutation 'R7314:Obox3'
ID |
567823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obox3
|
Ensembl Gene |
ENSMUSG00000066772 |
Gene Name |
oocyte specific homeobox 3 |
Synonyms |
Ohx |
MMRRC Submission |
045412-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R7314 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15361079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 62
(Q62L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086122]
[ENSMUST00000095217]
[ENSMUST00000173395]
[ENSMUST00000173912]
[ENSMUST00000174151]
[ENSMUST00000174443]
[ENSMUST00000174842]
|
AlphaFold |
Q3UT54 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086122
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000083291 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095217
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000092842 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173395
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133788 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173912
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133427 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174151
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133814 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174443
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134531 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174842
AA Change: Q62L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134526 Gene: ENSMUSG00000066772 AA Change: Q62L
Domain | Start | End | E-Value | Type |
HOX
|
94 |
151 |
1.46e-10 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
G |
A |
7: 29,989,320 (GRCm39) |
V177I |
unknown |
Het |
4930596D02Rik |
A |
G |
14: 35,533,606 (GRCm39) |
V54A |
probably benign |
Het |
Abcc10 |
C |
A |
17: 46,626,330 (GRCm39) |
A704S |
probably damaging |
Het |
Adss2 |
A |
G |
1: 177,595,317 (GRCm39) |
W408R |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,135,414 (GRCm39) |
E548G |
probably damaging |
Het |
C4b |
C |
T |
17: 34,959,330 (GRCm39) |
V415I |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,706,343 (GRCm39) |
V942A |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,214,954 (GRCm39) |
D25G |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,612,819 (GRCm39) |
|
probably null |
Het |
Dnah9 |
G |
A |
11: 65,880,677 (GRCm39) |
T2640I |
probably benign |
Het |
Dnase2b |
T |
C |
3: 146,288,151 (GRCm39) |
I315V |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,295 (GRCm39) |
S397G |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,504,090 (GRCm39) |
V171A |
possibly damaging |
Het |
Ghdc |
T |
C |
11: 100,659,928 (GRCm39) |
E273G |
probably damaging |
Het |
Hmgn2-ps |
C |
T |
8: 73,058,839 (GRCm39) |
G63R |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,541 (GRCm39) |
S409T |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
Jph4 |
TCCATTCTCGTATACCCCA |
TCCA |
14: 55,347,196 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,775,755 (GRCm39) |
Y268H |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,138,695 (GRCm39) |
D197G |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,277,563 (GRCm39) |
K594E |
possibly damaging |
Het |
Lgi3 |
T |
C |
14: 70,769,552 (GRCm39) |
F84S |
probably damaging |
Het |
Lingo3 |
T |
C |
10: 80,670,707 (GRCm39) |
I408V |
possibly damaging |
Het |
Map3k7 |
G |
T |
4: 31,985,769 (GRCm39) |
E231* |
probably null |
Het |
Nrip1 |
A |
G |
16: 76,088,078 (GRCm39) |
S1160P |
probably benign |
Het |
Oas1g |
A |
T |
5: 121,016,526 (GRCm39) |
L301Q |
probably damaging |
Het |
Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
Or6b13 |
A |
T |
7: 139,782,326 (GRCm39) |
V119D |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,004,996 (GRCm39) |
F727L |
probably benign |
Het |
Pcdha1 |
T |
C |
18: 37,064,553 (GRCm39) |
Y406H |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,896,052 (GRCm39) |
D374G |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,289,783 (GRCm39) |
L539* |
probably null |
Het |
Phkb |
A |
G |
8: 86,669,021 (GRCm39) |
|
probably null |
Het |
Ppp1r13b |
T |
C |
12: 111,812,790 (GRCm39) |
E143G |
probably damaging |
Het |
Rpap2 |
T |
C |
5: 107,768,245 (GRCm39) |
V361A |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,384,711 (GRCm39) |
T326A |
probably benign |
Het |
Smad9 |
A |
G |
3: 54,696,744 (GRCm39) |
N270D |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,317,107 (GRCm39) |
S172P |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,154,150 (GRCm39) |
L101P |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tmprss11f |
T |
C |
5: 86,671,912 (GRCm39) |
T427A |
possibly damaging |
Het |
Trhr2 |
A |
G |
8: 123,085,489 (GRCm39) |
V165A |
possibly damaging |
Het |
Ubr3 |
T |
A |
2: 69,821,944 (GRCm39) |
L1402Q |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,850,622 (GRCm39) |
|
probably null |
Het |
Zfp369 |
T |
C |
13: 65,439,918 (GRCm39) |
S201P |
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 |
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 |
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'- GGCATACGACCTATGGGAAG -3'
(R):5'- TTACCAGGTTCTCCAGTACAGG -3'
Sequencing Primer
(F):5'- CATACGACCTATGGGAAGATGAAAAC -3'
(R):5'- GGTTCTCCAGTACAGGAACATACTC -3'
|
Posted On |
2019-06-26 |