Incidental Mutation 'R8467:Nobox'
| ID |
656876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nobox
|
| Ensembl Gene |
ENSMUSG00000029736 |
| Gene Name |
NOBOX oogenesis homeobox |
| Synonyms |
Og2x |
| MMRRC Submission |
067911-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.457)
|
| Stock # |
R8467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
43280608-43286488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43282479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 309
(D309E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031749]
|
| AlphaFold |
Q8VIH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031749
AA Change: D309E
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: D309E
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
136 |
198 |
5.04e-23 |
SMART |
|
low complexity region
|
364 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: D184E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Homeobox
|
1 |
22 |
4e-7 |
PFAM |
|
low complexity region
|
161 |
173 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display oocyte degeneration after birth, atrophic ovaries, and female infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apon |
G |
A |
10: 128,091,002 (GRCm39) |
V227I |
probably benign |
Het |
| Arl9 |
T |
C |
5: 77,154,446 (GRCm39) |
I58T |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,951,787 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Cd55b |
A |
C |
1: 130,347,501 (GRCm39) |
S103R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,791,321 (GRCm39) |
F1268L |
probably benign |
Het |
| D17H6S53E |
T |
A |
17: 35,346,246 (GRCm39) |
D52E |
probably damaging |
Het |
| Dhx57 |
G |
C |
17: 80,561,853 (GRCm39) |
P887R |
probably damaging |
Het |
| Ehd1 |
T |
G |
19: 6,331,318 (GRCm39) |
S159A |
probably benign |
Het |
| Fam98a |
C |
A |
17: 75,851,830 (GRCm39) |
G84W |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
A |
5: 105,475,457 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,627,269 (GRCm39) |
H81R |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,596 (GRCm39) |
E680G |
possibly damaging |
Het |
| Grid2 |
A |
G |
6: 64,510,635 (GRCm39) |
D755G |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,238 (GRCm39) |
Y185H |
probably damaging |
Het |
| Hunk |
A |
G |
16: 90,293,508 (GRCm39) |
R597G |
probably damaging |
Het |
| Igfbp3 |
A |
G |
11: 7,163,523 (GRCm39) |
C90R |
probably damaging |
Het |
| Il7r |
T |
C |
15: 9,512,973 (GRCm39) |
T179A |
probably benign |
Het |
| Iqsec3 |
G |
A |
6: 121,358,676 (GRCm39) |
T1003I |
probably benign |
Het |
| Kif13b |
A |
T |
14: 64,996,154 (GRCm39) |
D980V |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,100,021 (GRCm39) |
D1525G |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,731 (GRCm39) |
E271G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Marchf10 |
A |
T |
11: 105,280,979 (GRCm39) |
Y435* |
probably null |
Het |
| Msantd5 |
A |
G |
11: 51,125,105 (GRCm39) |
I108V |
possibly damaging |
Het |
| Mup9 |
C |
T |
4: 60,376,481 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,136,168 (GRCm39) |
V97E |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,151,015 (GRCm39) |
D355G |
probably benign |
Het |
| Or6n1 |
A |
T |
1: 173,917,007 (GRCm39) |
T134S |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,993 (GRCm39) |
D744G |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,228,627 (GRCm39) |
V182A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,375,731 (GRCm39) |
I231N |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,332,015 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,121 (GRCm39) |
M1K |
probably null |
Het |
| Sp3 |
G |
A |
2: 72,801,482 (GRCm39) |
T177I |
possibly damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,441 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,644,790 (GRCm39) |
H1137Q |
probably damaging |
Het |
|
| Other mutations in Nobox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Nobox
|
APN |
6 |
43,280,935 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01399:Nobox
|
APN |
6 |
43,280,972 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01523:Nobox
|
APN |
6 |
43,281,057 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01762:Nobox
|
APN |
6 |
43,280,927 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02007:Nobox
|
APN |
6 |
43,284,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02582:Nobox
|
APN |
6 |
43,281,973 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02733:Nobox
|
APN |
6 |
43,284,136 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02902:Nobox
|
APN |
6 |
43,282,617 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02988:Nobox
|
UTSW |
6 |
43,282,095 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0056:Nobox
|
UTSW |
6 |
43,281,853 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0418:Nobox
|
UTSW |
6 |
43,284,169 (GRCm39) |
missense |
probably null |
|
|
R0699:Nobox
|
UTSW |
6 |
43,284,144 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1387:Nobox
|
UTSW |
6 |
43,284,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Nobox
|
UTSW |
6 |
43,284,401 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1630:Nobox
|
UTSW |
6 |
43,284,146 (GRCm39) |
nonsense |
probably null |
|
|
R2184:Nobox
|
UTSW |
6 |
43,281,819 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2760:Nobox
|
UTSW |
6 |
43,281,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3752:Nobox
|
UTSW |
6 |
43,284,167 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4273:Nobox
|
UTSW |
6 |
43,282,942 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4790:Nobox
|
UTSW |
6 |
43,282,480 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4805:Nobox
|
UTSW |
6 |
43,282,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6109:Nobox
|
UTSW |
6 |
43,282,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6759:Nobox
|
UTSW |
6 |
43,284,538 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7761:Nobox
|
UTSW |
6 |
43,281,125 (GRCm39) |
nonsense |
probably null |
|
|
R8084:Nobox
|
UTSW |
6 |
43,282,101 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8113:Nobox
|
UTSW |
6 |
43,282,951 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9035:Nobox
|
UTSW |
6 |
43,284,522 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9474:Nobox
|
UTSW |
6 |
43,284,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAACATCAAACCTTGGACAG -3'
(R):5'- TTCTGAACAGACTCTGACCCC -3'
Sequencing Primer
(F):5'- GCTATAAAATGCTTGATCACTCCTC -3'
(R):5'- CCCCCTTTCAGAATAATGAGGGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation