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: 0.362)
|
| Stock # |
IGL01523
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
43303674-43309554 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43304123 bp (GRCm38)
|
| 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: 109,976,494 (GRCm38) |
E246G |
probably damaging |
Het |
| B3galt5 |
T |
A |
16: 96,315,891 (GRCm38) |
D241E |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,145,050 (GRCm38) |
F442L |
possibly damaging |
Het |
| Cntnap5b |
A |
T |
1: 100,431,779 (GRCm38) |
E709V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,835,243 (GRCm38) |
I345V |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,233,444 (GRCm38) |
N183S |
probably damaging |
Het |
| Fam90a1b |
T |
C |
X: 94,356,759 (GRCm38) |
D155G |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,977,519 (GRCm38) |
S1394N |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 40,887,863 (GRCm38) |
Q166L |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,308,338 (GRCm38) |
D99G |
probably null |
Het |
| Grin2b |
A |
T |
6: 136,044,265 (GRCm38) |
W13R |
probably null |
Het |
| Hbb-bh1 |
C |
T |
7: 103,841,817 (GRCm38) |
V127M |
probably benign |
Het |
| Hc |
C |
T |
2: 35,039,238 (GRCm38) |
M282I |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,862,704 (GRCm38) |
E57G |
probably damaging |
Het |
| Inpp5j |
C |
T |
11: 3,495,932 (GRCm38) |
|
probably null |
Het |
| Krt84 |
A |
T |
15: 101,528,744 (GRCm38) |
V328E |
probably damaging |
Het |
| Lrriq1 |
C |
A |
10: 103,218,116 (GRCm38) |
E247* |
probably null |
Het |
| Mmrn2 |
T |
A |
14: 34,403,217 (GRCm38) |
F918L |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,347,943 (GRCm38) |
E704G |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,370,908 (GRCm38) |
N249K |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,812,403 (GRCm38) |
T230S |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,917,224 (GRCm38) |
S232T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,653,178 (GRCm38) |
Y159N |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,615,555 (GRCm38) |
V1032E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,118,963 (GRCm38) |
Q210R |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 61,990,883 (GRCm38) |
R905Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,954,983 (GRCm38) |
S683P |
possibly damaging |
Het |
|
| Other mutations in Nobox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Nobox
|
APN |
6 |
43,304,001 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL01399:Nobox
|
APN |
6 |
43,304,038 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01762:Nobox
|
APN |
6 |
43,303,993 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02007:Nobox
|
APN |
6 |
43,307,538 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02582:Nobox
|
APN |
6 |
43,305,039 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL02733:Nobox
|
APN |
6 |
43,307,202 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02902:Nobox
|
APN |
6 |
43,305,683 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02988:Nobox
|
UTSW |
6 |
43,305,161 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0056:Nobox
|
UTSW |
6 |
43,304,919 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0418:Nobox
|
UTSW |
6 |
43,307,235 (GRCm38) |
missense |
probably null |
|
|
R0699:Nobox
|
UTSW |
6 |
43,307,210 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1387:Nobox
|
UTSW |
6 |
43,307,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1619:Nobox
|
UTSW |
6 |
43,307,467 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R1630:Nobox
|
UTSW |
6 |
43,307,212 (GRCm38) |
nonsense |
probably null |
|
|
R2184:Nobox
|
UTSW |
6 |
43,304,885 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R2760:Nobox
|
UTSW |
6 |
43,304,106 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3752:Nobox
|
UTSW |
6 |
43,307,233 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4273:Nobox
|
UTSW |
6 |
43,306,008 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4790:Nobox
|
UTSW |
6 |
43,305,546 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4805:Nobox
|
UTSW |
6 |
43,305,119 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6109:Nobox
|
UTSW |
6 |
43,305,169 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6759:Nobox
|
UTSW |
6 |
43,307,604 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7761:Nobox
|
UTSW |
6 |
43,304,191 (GRCm38) |
nonsense |
probably null |
|
|
R8084:Nobox
|
UTSW |
6 |
43,305,167 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8113:Nobox
|
UTSW |
6 |
43,306,017 (GRCm38) |
missense |
probably benign |
0.25 |
|
R8467:Nobox
|
UTSW |
6 |
43,305,545 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9035:Nobox
|
UTSW |
6 |
43,307,588 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9474:Nobox
|
UTSW |
6 |
43,307,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation