Incidental Mutation 'R5720:Spaca7'
| ID |
451412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spaca7
|
| Ensembl Gene |
ENSMUSG00000010435 |
| Gene Name |
sperm acrosome associated 7 |
| Synonyms |
1700094C09Rik |
| MMRRC Submission |
043188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5720 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12623038-12650744 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12649004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 166
(E166G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010579]
[ENSMUST00000209428]
[ENSMUST00000210276]
[ENSMUST00000210424]
[ENSMUST00000211182]
|
| AlphaFold |
Q9D2S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010579
AA Change: E166G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010579
Gene: ENSMUSG00000010435
AA Change: E166G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPACA7
|
19 |
130 |
2.2e-47 |
PFAM |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209428
AA Change: K165E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210276
AA Change: E142G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210424
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211182
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
| Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
| Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxl7 |
A |
G |
15: 26,552,979 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
| Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
| Primpol |
A |
G |
8: 47,034,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
| Rspo2 |
C |
T |
15: 43,033,210 (GRCm39) |
C4Y |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,563 (GRCm39) |
D23G |
probably benign |
Het |
| Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
| Slc6a5 |
C |
T |
7: 49,606,264 (GRCm39) |
P724L |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
| Tmem132e |
G |
A |
11: 82,333,276 (GRCm39) |
|
probably null |
Het |
| Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
probably benign |
Het |
|
| Other mutations in Spaca7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Spaca7
|
APN |
8 |
12,630,941 (GRCm39) |
splice site |
probably benign |
|
|
IGL02385:Spaca7
|
APN |
8 |
12,636,498 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1211:Spaca7
|
UTSW |
8 |
12,623,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1597:Spaca7
|
UTSW |
8 |
12,630,991 (GRCm39) |
nonsense |
probably null |
|
|
R1653:Spaca7
|
UTSW |
8 |
12,636,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2148:Spaca7
|
UTSW |
8 |
12,636,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2308:Spaca7
|
UTSW |
8 |
12,648,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4179:Spaca7
|
UTSW |
8 |
12,636,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Spaca7
|
UTSW |
8 |
12,636,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7352:Spaca7
|
UTSW |
8 |
12,635,742 (GRCm39) |
missense |
probably benign |
|
|
R7838:Spaca7
|
UTSW |
8 |
12,635,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8375:Spaca7
|
UTSW |
8 |
12,648,998 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8717:Spaca7
|
UTSW |
8 |
12,636,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Spaca7
|
UTSW |
8 |
12,630,949 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTGCAGAATAAACTCAGGG -3'
(R):5'- GAGGGAGTCTCTCAAGGACTTG -3'
Sequencing Primer
(F):5'- AGGGCTTCATTAATGCCAGC -3'
(R):5'- GTCTCTCAAGGACTTGGCTTAGAAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation