Incidental Mutation 'R2760:Nobox'
ID |
253989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nobox
|
Ensembl Gene |
ENSMUSG00000029736 |
Gene Name |
NOBOX oogenesis homeobox |
Synonyms |
Og2x |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.550)
|
Stock # |
R2760 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
43280608-43286488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43281040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 478
(L478P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031749]
|
AlphaFold |
Q8VIH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031749
AA Change: L478P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031749 Gene: ENSMUSG00000029736 AA Change: L478P
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: L277P
|
SMART Domains |
Protein: ENSMUSP00000133353 Gene: ENSMUSG00000029736 AA Change: L277P
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Atp8a2 |
C |
T |
14: 60,097,641 (GRCm39) |
V796I |
probably benign |
Het |
Btnl1 |
T |
G |
17: 34,600,012 (GRCm39) |
W172G |
probably damaging |
Het |
Ceacam1 |
T |
C |
7: 25,176,899 (GRCm39) |
T21A |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,525,837 (GRCm39) |
H257R |
probably benign |
Het |
Frmpd1 |
A |
C |
4: 45,244,667 (GRCm39) |
I119L |
possibly damaging |
Het |
Haus6 |
A |
T |
4: 86,501,413 (GRCm39) |
Y819* |
probably null |
Het |
Ildr2 |
A |
G |
1: 166,131,175 (GRCm39) |
R344G |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,291 (GRCm39) |
I642V |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lum |
T |
C |
10: 97,404,633 (GRCm39) |
V176A |
probably benign |
Het |
Or10g6 |
T |
A |
9: 39,933,692 (GRCm39) |
M1K |
probably null |
Het |
Or4a67 |
T |
A |
2: 88,597,980 (GRCm39) |
R226S |
possibly damaging |
Het |
Or55b4 |
T |
C |
7: 102,133,583 (GRCm39) |
H248R |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,802 (GRCm39) |
V225A |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,876 (GRCm39) |
Y279F |
probably damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,136 (GRCm39) |
C64S |
probably benign |
Het |
Senp6 |
A |
G |
9: 80,029,260 (GRCm39) |
Y285C |
probably null |
Het |
Slco1a5 |
C |
A |
6: 142,195,997 (GRCm39) |
M335I |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,927,840 (GRCm39) |
I648K |
probably damaging |
Het |
Ube3d |
T |
C |
9: 86,305,027 (GRCm39) |
I272V |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Utrn |
A |
G |
10: 12,566,622 (GRCm39) |
V1180A |
probably damaging |
Het |
Vill |
T |
C |
9: 118,895,950 (GRCm39) |
|
probably null |
Het |
Vmn2r101 |
T |
C |
17: 19,809,901 (GRCm39) |
I229T |
probably benign |
Het |
Zbtb8b |
A |
T |
4: 129,326,293 (GRCm39) |
L291M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATAGCAGGCCAGTCCATAG -3'
(R):5'- TTGATTCCACAGGTACAGGAC -3'
Sequencing Primer
(F):5'- TTCCCAGGCCTCCCATAAGG -3'
(R):5'- AGGACCCTGGAGTGGCC -3'
|
Posted On |
2014-12-04 |