Incidental Mutation 'R4178:Obox7'
ID |
319594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obox7
|
Ensembl Gene |
ENSMUSG00000055942 |
Gene Name |
oocyte specific homeobox 7 |
Synonyms |
Gm4745 |
MMRRC Submission |
040864-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R4178 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
14393633-14399921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14398032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 24
(Q24R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069740]
[ENSMUST00000183424]
[ENSMUST00000183788]
|
AlphaFold |
Q4KL20 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069740
AA Change: Q24R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069239 Gene: ENSMUSG00000055942 AA Change: Q24R
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.89e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183424
AA Change: Q24R
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138871 Gene: ENSMUSG00000055942 AA Change: Q24R
Domain | Start | End | E-Value | Type |
Pfam:Homeobox
|
95 |
137 |
7.8e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183788
AA Change: Q24R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138932 Gene: ENSMUSG00000055942 AA Change: Q24R
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.89e-13 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxrl |
A |
G |
14: 33,776,928 (GRCm39) |
|
probably null |
Het |
Atp2b2 |
A |
T |
6: 113,770,679 (GRCm39) |
V410E |
probably damaging |
Het |
C6 |
G |
A |
15: 4,764,621 (GRCm39) |
V106I |
probably benign |
Het |
Cdhr1 |
A |
C |
14: 36,804,896 (GRCm39) |
|
probably null |
Het |
Cfap44 |
T |
A |
16: 44,272,216 (GRCm39) |
L1323Q |
possibly damaging |
Het |
Ehd4 |
T |
A |
2: 119,984,829 (GRCm39) |
Y43F |
probably damaging |
Het |
Eno1 |
T |
C |
4: 150,328,490 (GRCm39) |
I90T |
possibly damaging |
Het |
Epb41l1 |
A |
G |
2: 156,363,477 (GRCm39) |
Y662C |
probably benign |
Het |
Fkbp14 |
A |
G |
6: 54,566,299 (GRCm39) |
L103P |
probably damaging |
Het |
Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
Iqcd |
C |
A |
5: 120,740,476 (GRCm39) |
T269K |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,668,972 (GRCm39) |
C249* |
probably null |
Het |
Kcnab2 |
T |
C |
4: 152,489,058 (GRCm39) |
R109G |
probably null |
Het |
Or5p1 |
A |
G |
7: 107,916,565 (GRCm39) |
N155D |
probably damaging |
Het |
Or5p68 |
G |
A |
7: 107,945,765 (GRCm39) |
T141I |
probably benign |
Het |
Or8g18 |
A |
C |
9: 39,149,375 (GRCm39) |
L115* |
probably null |
Het |
Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,191,688 (GRCm39) |
S1049P |
probably damaging |
Het |
Smc1b |
A |
T |
15: 85,004,848 (GRCm39) |
F409I |
possibly damaging |
Het |
Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,120,725 (GRCm39) |
Y338C |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,445,787 (GRCm39) |
E588G |
probably benign |
Het |
Vcan |
T |
C |
13: 89,873,666 (GRCm39) |
R63G |
probably damaging |
Het |
Zfp775 |
A |
G |
6: 48,590,187 (GRCm39) |
|
probably null |
Het |
Zfpm2 |
T |
C |
15: 40,966,940 (GRCm39) |
C1010R |
probably damaging |
Het |
|
Other mutations in Obox7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00597:Obox7
|
APN |
7 |
14,397,957 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02604:Obox7
|
APN |
7 |
14,399,293 (GRCm39) |
missense |
probably benign |
0.00 |
R0058:Obox7
|
UTSW |
7 |
14,398,313 (GRCm39) |
missense |
probably benign |
0.30 |
R1656:Obox7
|
UTSW |
7 |
14,399,346 (GRCm39) |
missense |
probably benign |
0.01 |
R1977:Obox7
|
UTSW |
7 |
14,398,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R3708:Obox7
|
UTSW |
7 |
14,398,122 (GRCm39) |
nonsense |
probably null |
|
R3939:Obox7
|
UTSW |
7 |
14,397,972 (GRCm39) |
missense |
probably benign |
0.05 |
R4178:Obox7
|
UTSW |
7 |
14,398,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R4496:Obox7
|
UTSW |
7 |
14,399,299 (GRCm39) |
missense |
probably benign |
0.19 |
R4818:Obox7
|
UTSW |
7 |
14,398,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R7839:Obox7
|
UTSW |
7 |
14,399,350 (GRCm39) |
missense |
probably benign |
0.01 |
R9680:Obox7
|
UTSW |
7 |
14,398,067 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATGAGGGTCCTGATTGATTCC -3'
(R):5'- ACAGCACCTTGTTGCATTTGG -3'
Sequencing Primer
(F):5'- TGTCCATAACAAATGCTAGGTAGGC -3'
(R):5'- AGCACCTTGTTGCATTTGGATACC -3'
|
Posted On |
2015-06-10 |