Incidental Mutation 'IGL01764:Spag7'
| ID |
153648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spag7
|
| Ensembl Gene |
ENSMUSG00000018287 |
| Gene Name |
sperm associated antigen 7 |
| Synonyms |
FSA-1, Fsa1l |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01764
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70554597-70560242 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 70554933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018431]
[ENSMUST00000072841]
[ENSMUST00000108548]
[ENSMUST00000129434]
[ENSMUST00000157027]
[ENSMUST00000170716]
|
| AlphaFold |
Q7TNE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018431
|
| SMART Domains |
Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
31 |
109 |
3.85e-21 |
SMART |
|
low complexity region
|
130 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072841
|
| SMART Domains |
Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108548
|
| SMART Domains |
Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129434
|
| SMART Domains |
Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287
| Domain | Start | End | E-Value | Type |
|---|
|
R3H
|
22 |
99 |
3.06e-15 |
SMART |
|
low complexity region
|
120 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157027
|
| SMART Domains |
Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Pfam:Enolase_C
|
142 |
196 |
1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170716
|
| SMART Domains |
Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
6.26e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
8.8e-200 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179055
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 86,909,910 (GRCm39) |
M1L |
probably benign |
Het |
| BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
| Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
| Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
| Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,427 (GRCm39) |
M302T |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
| Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,392,770 (GRCm39) |
R895W |
probably benign |
Het |
| Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
| Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
| Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
| Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
| Spata2l |
T |
A |
8: 123,960,914 (GRCm39) |
Q125L |
probably benign |
Het |
| Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,556 (GRCm39) |
I70T |
probably benign |
Het |
| Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spag7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
life_savers
|
UTSW |
11 |
70,555,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Spag7
|
UTSW |
11 |
70,555,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Spag7
|
UTSW |
11 |
70,560,016 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Spag7
|
UTSW |
11 |
70,560,008 (GRCm39) |
unclassified |
probably benign |
|
|
R1622:Spag7
|
UTSW |
11 |
70,555,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Spag7
|
UTSW |
11 |
70,555,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4025:Spag7
|
UTSW |
11 |
70,555,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Spag7
|
UTSW |
11 |
70,560,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Spag7
|
UTSW |
11 |
70,555,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4410:Spag7
|
UTSW |
11 |
70,555,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4561:Spag7
|
UTSW |
11 |
70,555,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Spag7
|
UTSW |
11 |
70,560,059 (GRCm39) |
missense |
probably null |
1.00 |
|
R6366:Spag7
|
UTSW |
11 |
70,555,418 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7283:Spag7
|
UTSW |
11 |
70,556,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7653:Spag7
|
UTSW |
11 |
70,555,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8404:Spag7
|
UTSW |
11 |
70,560,059 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8502:Spag7
|
UTSW |
11 |
70,560,059 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9628:Spag7
|
UTSW |
11 |
70,555,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-02-04 |
Incidental Mutation