Incidental Mutation 'IGL02007:Nobox'
ID |
182252 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nobox
|
Ensembl Gene |
ENSMUSG00000029736 |
Gene Name |
NOBOX oogenesis homeobox |
Synonyms |
Og2x |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.457)
|
Stock # |
IGL02007
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
43280608-43286488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43284472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 58
(L58P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031749]
|
AlphaFold |
Q8VIH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031749
AA Change: L58P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031749 Gene: ENSMUSG00000029736 AA Change: L58P
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 |
probably benign
Transcript: ENSMUST00000172554
|
SMART Domains |
Protein: ENSMUSP00000133353 Gene: ENSMUSG00000029736
Domain | Start | End | E-Value | Type |
Pfam:Homeobox
|
1 |
22 |
4e-7 |
PFAM |
low complexity region
|
161 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183706
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
C |
A |
14: 68,870,668 (GRCm39) |
R335L |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,716,862 (GRCm39) |
|
probably benign |
Het |
Calcrl |
A |
G |
2: 84,205,668 (GRCm39) |
C8R |
probably benign |
Het |
Cntn4 |
T |
A |
6: 106,632,490 (GRCm39) |
S505T |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,378,758 (GRCm39) |
|
probably benign |
Het |
Dync2i2 |
A |
G |
2: 29,928,402 (GRCm39) |
S75P |
probably benign |
Het |
Fhip1a |
G |
T |
3: 85,629,752 (GRCm39) |
P280T |
probably damaging |
Het |
Gpatch11 |
A |
G |
17: 79,149,593 (GRCm39) |
T198A |
probably benign |
Het |
H2-T15 |
G |
T |
17: 36,367,222 (GRCm39) |
N333K |
possibly damaging |
Het |
Heatr5a |
C |
A |
12: 51,962,941 (GRCm39) |
L986F |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,443,948 (GRCm39) |
I90T |
probably benign |
Het |
Igkv3-9 |
A |
G |
6: 70,565,445 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
G |
A |
6: 90,667,331 (GRCm39) |
P369S |
probably benign |
Het |
Myh1 |
C |
A |
11: 67,111,382 (GRCm39) |
T1607K |
probably benign |
Het |
Myo18b |
T |
C |
5: 113,022,838 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,962,042 (GRCm39) |
I542N |
possibly damaging |
Het |
Or4k51 |
A |
G |
2: 111,584,824 (GRCm39) |
T77A |
probably damaging |
Het |
Or5p54 |
A |
G |
7: 107,553,953 (GRCm39) |
Y35C |
probably damaging |
Het |
Osm |
C |
T |
11: 4,189,470 (GRCm39) |
R85W |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,707,031 (GRCm39) |
R90G |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,397,129 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
G |
11: 4,061,114 (GRCm39) |
S116P |
probably benign |
Het |
Selenbp2 |
A |
C |
3: 94,605,461 (GRCm39) |
N96H |
possibly damaging |
Het |
Smarcal1 |
T |
C |
1: 72,635,099 (GRCm39) |
S393P |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,414,335 (GRCm39) |
Q103R |
probably damaging |
Het |
Tmem63c |
T |
C |
12: 87,119,647 (GRCm39) |
Y314H |
probably damaging |
Het |
Zfp663 |
A |
C |
2: 165,200,993 (GRCm39) |
S14A |
probably benign |
Het |
Zmynd10 |
A |
G |
9: 107,427,731 (GRCm39) |
N345S |
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 |
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 |
R8467:Nobox
|
UTSW |
6 |
43,282,479 (GRCm39) |
missense |
probably benign |
0.12 |
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 |
|
Posted On |
2014-05-07 |