Incidental Mutation 'R0048:Nanos3'
| ID |
201289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nanos3
|
| Ensembl Gene |
ENSMUSG00000056155 |
| Gene Name |
nanos C2HC-type zinc finger 3 |
| Synonyms |
nos3 |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.731)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84900359-84911396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84902763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 133
(R133Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070102]
[ENSMUST00000093375]
[ENSMUST00000118856]
[ENSMUST00000210202]
|
| AlphaFold |
P60324 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070102
AA Change: R133Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067385
Gene: ENSMUSG00000056155
AA Change: R133Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
54 |
N/A |
INTRINSIC |
|
Pfam:zf-nanos
|
57 |
110 |
1.2e-28 |
PFAM |
|
low complexity region
|
157 |
178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093375
|
| SMART Domains |
Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118856
|
| SMART Domains |
Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4671
|
1 |
193 |
2.1e-62 |
PFAM |
|
Pfam:DUF4671
|
181 |
600 |
7.3e-131 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210202
AA Change: R133Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211482
|
| Meta Mutation Damage Score |
0.1597 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this locus results in both male and female infertility. Both male and female gonads are reduced in size and are devoid of germ cells, putatively due to impaired maintainence of primordial germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,137,761 (GRCm39) |
M248V |
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vmn1r67 |
G |
A |
7: 10,180,793 (GRCm39) |
G19E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Wwox |
C |
A |
8: 115,166,570 (GRCm39) |
P20Q |
probably damaging |
Het |
|
| Other mutations in Nanos3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0047:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0189:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0190:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0226:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Nanos3
|
UTSW |
8 |
84,902,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Nanos3
|
UTSW |
8 |
84,902,815 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9128:Nanos3
|
UTSW |
8 |
84,903,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGGCAAACAGACATGAAATG -3'
(R):5'- TGCAAACACAATGGCGAGTCCC -3'
Sequencing Primer
(F):5'- TCTCTACTACCCTGTGCAATAAAGG -3'
(R):5'- TCCCATGTCCTGAAGGATGAG -3'
|
| Posted On |
2014-05-28 |
Incidental Mutation