Incidental Mutation 'IGL01762:Nobox'
| ID |
153273 |
| 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 # |
IGL01762
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
43280608-43286488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43280927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 516
(K516Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031749]
|
| AlphaFold |
Q8VIH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031749
AA Change: K516Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031749
Gene: ENSMUSG00000029736
AA Change: K516Q
| 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: K315Q
|
| SMART Domains |
Protein: ENSMUSP00000133353
Gene: ENSMUSG00000029736
AA Change: K315Q
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,847 (GRCm39) |
L47* |
probably null |
Het |
| Abca13 |
A |
T |
11: 9,265,423 (GRCm39) |
T3033S |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,112,480 (GRCm39) |
V503L |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,119 (GRCm39) |
D770V |
possibly damaging |
Het |
| Camkk1 |
A |
G |
11: 72,921,627 (GRCm39) |
|
probably null |
Het |
| Cd34 |
T |
A |
1: 194,621,341 (GRCm39) |
M23K |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,208 (GRCm39) |
I574T |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Galk1 |
A |
G |
11: 115,900,834 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,475,473 (GRCm39) |
I292V |
probably benign |
Het |
| Gprc5c |
A |
G |
11: 114,754,850 (GRCm39) |
I176V |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,199,538 (GRCm39) |
K258E |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,512,242 (GRCm39) |
V48A |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,084,850 (GRCm39) |
D243V |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,100,560 (GRCm39) |
S195P |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,161,750 (GRCm39) |
I477T |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,097,349 (GRCm39) |
A394T |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,214,668 (GRCm39) |
R1553* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,434,013 (GRCm39) |
I577V |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,786 (GRCm39) |
I256T |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,037,386 (GRCm38) |
T189A |
probably benign |
Het |
| Ptprr |
C |
T |
10: 116,072,638 (GRCm39) |
T200I |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,830,168 (GRCm39) |
P198L |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,849 (GRCm39) |
L447P |
possibly damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,387,984 (GRCm39) |
F371I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,771,621 (GRCm39) |
R184G |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,056 (GRCm39) |
D217V |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,654 (GRCm39) |
F234L |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,430 (GRCm39) |
L594R |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,434 (GRCm39) |
Q376R |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,856 (GRCm39) |
D567G |
probably benign |
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 |
|
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 |
2014-02-04 |
Incidental Mutation