Incidental Mutation 'R0104:Sox30'
| ID |
64151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sox30
|
| Ensembl Gene |
ENSMUSG00000040489 |
| Gene Name |
SRY (sex determining region Y)-box 30 |
| Synonyms |
|
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
108 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
45871137-45908821 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 45872141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 332
(E332A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049038]
|
| AlphaFold |
Q8CGW4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049038
AA Change: E332A
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037519
Gene: ENSMUSG00000040489
AA Change: E332A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
220 |
N/A |
INTRINSIC |
|
HMG
|
365 |
435 |
8.35e-24 |
SMART |
|
low complexity region
|
523 |
539 |
N/A |
INTRINSIC |
|
Blast:Pept_C1
|
572 |
734 |
1e-92 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]
PHENOTYPE: Male mice homozygous for a null allele are infertile with arrest of spermiogenesis and azoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnah5 |
A |
T |
15: 28,453,499 (GRCm39) |
E4423D |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,465,116 (GRCm39) |
L10H |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,314,966 (GRCm39) |
H704Q |
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,110,966 (GRCm39) |
I66T |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,300,619 (GRCm39) |
Y157H |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,146,807 (GRCm39) |
D443G |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,718 (GRCm39) |
E132G |
probably benign |
Het |
| Pmpcb |
C |
G |
5: 21,951,036 (GRCm39) |
S266* |
probably null |
Het |
| Prmt7 |
T |
C |
8: 106,963,982 (GRCm39) |
I292T |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,000,104 (GRCm39) |
L1186S |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,809 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
| Other mutations in Sox30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Sox30
|
APN |
11 |
45,882,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01449:Sox30
|
APN |
11 |
45,872,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02411:Sox30
|
APN |
11 |
45,871,951 (GRCm39) |
nonsense |
probably null |
|
|
IGL02601:Sox30
|
APN |
11 |
45,875,589 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02747:Sox30
|
APN |
11 |
45,871,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03403:Sox30
|
APN |
11 |
45,908,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Sox30
|
UTSW |
11 |
45,908,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2109:Sox30
|
UTSW |
11 |
45,882,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Sox30
|
UTSW |
11 |
45,875,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3715:Sox30
|
UTSW |
11 |
45,875,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4111:Sox30
|
UTSW |
11 |
45,908,041 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4723:Sox30
|
UTSW |
11 |
45,875,592 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5014:Sox30
|
UTSW |
11 |
45,882,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5408:Sox30
|
UTSW |
11 |
45,882,694 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5974:Sox30
|
UTSW |
11 |
45,871,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6063:Sox30
|
UTSW |
11 |
45,882,769 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6948:Sox30
|
UTSW |
11 |
45,908,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Sox30
|
UTSW |
11 |
45,875,347 (GRCm39) |
splice site |
probably null |
|
|
R7258:Sox30
|
UTSW |
11 |
45,871,379 (GRCm39) |
missense |
unknown |
|
|
R8195:Sox30
|
UTSW |
11 |
45,882,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9205:Sox30
|
UTSW |
11 |
45,908,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Sox30
|
UTSW |
11 |
45,875,640 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCGTCAAGGCCGAGAAGCAAG -3'
(R):5'- TGCAAGCTAAGGGCCGTACCAG -3'
Sequencing Primer
(F):5'- TGGTCCACAGCAGCAAG -3'
(R):5'- GGATTCTACTTTTCGAGCTTCAG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation