Incidental Mutation 'IGL01144:Nobox'
| ID |
51387 |
| 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 essential
(E-score: 0.550)
|
| Stock # |
IGL01144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
43280608-43286488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43280935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 513
(V513A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031749]
|
| AlphaFold |
Q8VIH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031749
AA Change: V513A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: V513A
| 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: V312A
|
| SMART Domains |
Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: V312A
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cox19 |
T |
C |
5: 139,330,881 (GRCm39) |
K10E |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,329 (GRCm39) |
K143N |
unknown |
Het |
| Dnajb13 |
T |
C |
7: 100,152,431 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,636,814 (GRCm39) |
N91D |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,060,925 (GRCm39) |
I801T |
probably damaging |
Het |
| Nexmif |
A |
G |
X: 103,127,559 (GRCm39) |
S1453P |
possibly damaging |
Het |
| Phactr1 |
G |
A |
13: 43,191,000 (GRCm39) |
D157N |
possibly damaging |
Het |
| Plod1 |
G |
T |
4: 148,017,211 (GRCm39) |
Q49K |
probably benign |
Het |
| Ppp1r10 |
C |
T |
17: 36,237,456 (GRCm39) |
R209C |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,696,882 (GRCm39) |
E1011G |
unknown |
Het |
| Rab27a |
G |
A |
9: 72,982,850 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
T |
A |
7: 122,575,169 (GRCm39) |
D59E |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,929,110 (GRCm39) |
T1432K |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,429,017 (GRCm39) |
S383A |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,014,829 (GRCm39) |
D436E |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,682,099 (GRCm39) |
Y1266N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,551,173 (GRCm39) |
Y29660* |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,268,247 (GRCm39) |
I989T |
probably damaging |
Het |
| Zkscan14 |
G |
T |
5: 145,132,806 (GRCm39) |
R242S |
probably benign |
Het |
|
| Other mutations in Nobox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation