Incidental Mutation 'R8275:Obox1'
| ID |
637938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Obox1
|
| Ensembl Gene |
ENSMUSG00000054310 |
| Gene Name |
oocyte specific homeobox 1 |
| Synonyms |
7420700M11Rik |
| MMRRC Submission |
067698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
15281182-15290771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15290153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 165
(N165K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067288]
[ENSMUST00000086122]
[ENSMUST00000172463]
[ENSMUST00000172881]
[ENSMUST00000173245]
[ENSMUST00000173443]
[ENSMUST00000181001]
|
| AlphaFold |
Q9D350 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067288
AA Change: N165K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067691
Gene: ENSMUSG00000054310
AA Change: N165K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086122
|
| SMART Domains |
Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172463
AA Change: N165K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133504
Gene: ENSMUSG00000054310
AA Change: N165K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172881
AA Change: N165K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134688
Gene: ENSMUSG00000054310
AA Change: N165K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173245
AA Change: N165K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133496
Gene: ENSMUSG00000054310
AA Change: N165K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173443
AA Change: N165K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134043
Gene: ENSMUSG00000054310
AA Change: N165K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181001
AA Change: N165K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138010
Gene: ENSMUSG00000054310
AA Change: N165K
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
T |
C |
10: 102,864,250 (GRCm39) |
D73G |
probably benign |
Het |
| Asah1 |
G |
A |
8: 41,801,159 (GRCm39) |
H156Y |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,682,263 (GRCm39) |
L439F |
possibly damaging |
Het |
| Creb1 |
C |
A |
1: 64,597,687 (GRCm39) |
T7K |
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,026,749 (GRCm39) |
I469L |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,508,735 (GRCm39) |
T236S |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,175,249 (GRCm39) |
I1349T |
probably benign |
Het |
| Efhd2 |
C |
T |
4: 141,602,073 (GRCm39) |
A36T |
probably benign |
Het |
| Espl1 |
G |
A |
15: 102,211,188 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 16,158,046 (GRCm39) |
Q1188L |
probably damaging |
Het |
| Flt1 |
A |
T |
5: 147,614,957 (GRCm39) |
Y330N |
probably damaging |
Het |
| Golga4 |
A |
T |
9: 118,361,627 (GRCm39) |
S202C |
probably damaging |
Het |
| Htr2b |
C |
T |
1: 86,030,294 (GRCm39) |
D134N |
probably damaging |
Het |
| Katna1 |
T |
A |
10: 7,628,574 (GRCm39) |
C268S |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,948,807 (GRCm39) |
Y857H |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,950,667 (GRCm39) |
I3741T |
probably benign |
Het |
| Mcm4 |
T |
C |
16: 15,452,435 (GRCm39) |
I233V |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,303,792 (GRCm39) |
V286A |
possibly damaging |
Het |
| Nav3 |
C |
A |
10: 109,527,984 (GRCm39) |
G1503V |
noncoding transcript |
Het |
| Or11g2 |
T |
A |
14: 50,855,868 (GRCm39) |
M63K |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,758 (GRCm39) |
I77N |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,886,329 (GRCm39) |
|
probably null |
Het |
| Papss2 |
T |
C |
19: 32,615,760 (GRCm39) |
L164P |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,292,501 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rsph10b |
C |
G |
5: 143,903,323 (GRCm39) |
T606S |
possibly damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,892 (GRCm39) |
V546A |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,146,681 (GRCm39) |
S374G |
probably benign |
Het |
| Tia1 |
C |
T |
6: 86,404,718 (GRCm39) |
Q318* |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,801,859 (GRCm39) |
K69* |
probably null |
Het |
| Unc80 |
C |
T |
1: 66,679,773 (GRCm39) |
R2115* |
probably null |
Het |
| Usp35 |
A |
G |
7: 96,964,026 (GRCm39) |
S436P |
probably damaging |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,483 (GRCm39) |
L71* |
probably null |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,150 (GRCm39) |
D851E |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,707,522 (GRCm39) |
D148E |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,768,223 (GRCm39) |
H669Y |
probably benign |
Het |
| Zfp804b |
C |
T |
5: 6,822,289 (GRCm39) |
R258Q |
probably benign |
Het |
|
| Other mutations in Obox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0420:Obox1
|
UTSW |
7 |
15,290,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1374:Obox1
|
UTSW |
7 |
15,289,426 (GRCm39) |
splice site |
probably benign |
|
|
R1527:Obox1
|
UTSW |
7 |
15,289,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1984:Obox1
|
UTSW |
7 |
15,289,135 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4585:Obox1
|
UTSW |
7 |
15,290,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4586:Obox1
|
UTSW |
7 |
15,290,152 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4680:Obox1
|
UTSW |
7 |
15,290,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Obox1
|
UTSW |
7 |
15,290,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Obox1
|
UTSW |
7 |
15,289,430 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6331:Obox1
|
UTSW |
7 |
15,289,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6596:Obox1
|
UTSW |
7 |
15,289,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Obox1
|
UTSW |
7 |
15,289,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7919:Obox1
|
UTSW |
7 |
15,290,256 (GRCm39) |
nonsense |
probably null |
|
|
R7946:Obox1
|
UTSW |
7 |
15,289,456 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8447:Obox1
|
UTSW |
7 |
15,289,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9618:Obox1
|
UTSW |
7 |
15,289,624 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTGCTGCTGACCTGTGAAG -3'
(R):5'- AGCTGTAACAGGGGTATGGC -3'
Sequencing Primer
(F):5'- CTGCTGCTGACCTGTGAAGTATTG -3'
(R):5'- GGTATGGCCATCAAGCACGTATTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation