Incidental Mutation 'IGL01523:Nobox'
| ID |
89466 |
| 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 # |
IGL01523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
43280608-43286488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43281057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 472
(K472N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031749]
|
| AlphaFold |
Q8VIH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031749
AA Change: K472N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K472N
| 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 |
unknown
Transcript: ENSMUST00000172554
AA Change: K271N
|
| SMART Domains |
Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K271N
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,867,320 (GRCm39) |
E246G |
probably damaging |
Het |
| B3galt5 |
T |
A |
16: 96,117,091 (GRCm39) |
D241E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,507 (GRCm39) |
F442L |
possibly damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,359,504 (GRCm39) |
E709V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,835,243 (GRCm39) |
I345V |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,124,270 (GRCm39) |
N183S |
probably damaging |
Het |
| Fam90a1b |
T |
C |
X: 93,400,365 (GRCm39) |
D155G |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,807,863 (GRCm39) |
S1394N |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,339 (GRCm39) |
Q166L |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,007,763 (GRCm39) |
D99G |
probably null |
Het |
| Grin2b |
A |
T |
6: 136,021,263 (GRCm39) |
W13R |
probably null |
Het |
| Hbb-bh1 |
C |
T |
7: 103,491,024 (GRCm39) |
V127M |
probably benign |
Het |
| Hc |
C |
T |
2: 34,929,250 (GRCm39) |
M282I |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,461,876 (GRCm39) |
E57G |
probably damaging |
Het |
| Inpp5j |
C |
T |
11: 3,445,932 (GRCm39) |
|
probably null |
Het |
| Krt84 |
A |
T |
15: 101,437,179 (GRCm39) |
V328E |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,053,977 (GRCm39) |
E247* |
probably null |
Het |
| Mmrn2 |
T |
A |
14: 34,125,174 (GRCm39) |
F918L |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,238,769 (GRCm39) |
E704G |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,420,908 (GRCm39) |
N249K |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,415 (GRCm39) |
T230S |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,807,236 (GRCm39) |
S232T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,580,903 (GRCm39) |
Y159N |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,700,012 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,272,999 (GRCm39) |
Q210R |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,123,954 (GRCm39) |
R905Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,785,327 (GRCm39) |
S683P |
possibly 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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation