Incidental Mutation 'IGL01352:Spag6'
| ID |
75397 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spag6
|
| Ensembl Gene |
ENSMUSG00000037708 |
| Gene Name |
sperm associated antigen 6 |
| Synonyms |
BC061194, Spag6l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18698808-18754561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 18715284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 21
(M21R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095132]
[ENSMUST00000173763]
|
| AlphaFold |
Q3V0U9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095132
AA Change: M43R
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: M43R
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
30 |
70 |
2.26e-3 |
SMART |
|
ARM
|
114 |
154 |
1.67e-6 |
SMART |
|
ARM
|
156 |
196 |
4.28e-4 |
SMART |
|
ARM
|
198 |
238 |
5.43e-6 |
SMART |
|
ARM
|
240 |
280 |
4.6e0 |
SMART |
|
ARM
|
282 |
322 |
3.09e1 |
SMART |
|
ARM
|
323 |
365 |
3.93e-3 |
SMART |
|
Blast:ARM
|
367 |
409 |
7e-17 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173763
AA Change: M21R
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708
AA Change: M21R
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
8 |
48 |
2.26e-3 |
SMART |
|
Blast:ARM
|
50 |
90 |
2e-14 |
BLAST |
|
ARM
|
92 |
132 |
1.67e-6 |
SMART |
|
ARM
|
134 |
166 |
5.76e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,837,155 (GRCm39) |
I1169V |
probably benign |
Het |
| B3gnt5 |
T |
C |
16: 19,587,963 (GRCm39) |
S61P |
probably damaging |
Het |
| Bambi |
G |
A |
18: 3,512,071 (GRCm39) |
A152T |
probably damaging |
Het |
| Cacna1c |
G |
A |
6: 118,633,518 (GRCm39) |
Q930* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,152,031 (GRCm39) |
|
probably benign |
Het |
| Chit1 |
C |
T |
1: 134,076,228 (GRCm39) |
T295M |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,600,896 (GRCm39) |
N746K |
probably benign |
Het |
| Cyfip2 |
A |
T |
11: 46,156,823 (GRCm39) |
F422I |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,656,753 (GRCm39) |
M208V |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
A |
G |
19: 46,253,654 (GRCm39) |
H574R |
probably damaging |
Het |
| Gm17654 |
T |
G |
14: 43,813,331 (GRCm39) |
E186D |
probably damaging |
Het |
| Gm8165 |
T |
C |
14: 43,913,573 (GRCm39) |
N97S |
unknown |
Het |
| Ilf3 |
C |
T |
9: 21,303,618 (GRCm39) |
L160F |
possibly damaging |
Het |
| Krt84 |
T |
A |
15: 101,437,209 (GRCm39) |
Q318L |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,333,870 (GRCm39) |
H1457L |
possibly damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,390,181 (GRCm39) |
D1748V |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,741,904 (GRCm39) |
E676G |
probably damaging |
Het |
| Myo10 |
C |
A |
15: 25,701,783 (GRCm39) |
R53S |
probably damaging |
Het |
| Myorg |
T |
A |
4: 41,499,469 (GRCm39) |
R54* |
probably null |
Het |
| Nrap |
A |
G |
19: 56,368,268 (GRCm39) |
S205P |
probably benign |
Het |
| Or4c52 |
A |
G |
2: 89,846,063 (GRCm39) |
D263G |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,437,285 (GRCm39) |
Y66* |
probably null |
Het |
| Or8b1b |
A |
G |
9: 38,376,030 (GRCm39) |
N231S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,619,939 (GRCm39) |
M894L |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,634,641 (GRCm39) |
|
probably null |
Het |
| Pycard |
T |
C |
7: 127,592,674 (GRCm39) |
D9G |
probably damaging |
Het |
| Rbfox3 |
G |
A |
11: 118,396,439 (GRCm39) |
|
probably benign |
Het |
| Rnf122 |
C |
T |
8: 31,614,908 (GRCm39) |
R71* |
probably null |
Het |
| Scel |
T |
A |
14: 103,770,774 (GRCm39) |
D69E |
possibly damaging |
Het |
| Stat5a |
A |
G |
11: 100,771,898 (GRCm39) |
D650G |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,308,658 (GRCm39) |
I276T |
possibly damaging |
Het |
| Tnfaip2 |
G |
T |
12: 111,412,053 (GRCm39) |
E151D |
probably damaging |
Het |
| Trio |
G |
A |
15: 27,901,315 (GRCm39) |
T313I |
probably benign |
Het |
| Ubqln4 |
A |
C |
3: 88,471,775 (GRCm39) |
M404L |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,934,807 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
T |
5: 102,091,986 (GRCm39) |
V451D |
probably damaging |
Het |
| Zfp341 |
G |
T |
2: 154,470,816 (GRCm39) |
A278S |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,547,093 (GRCm39) |
A28T |
possibly damaging |
Het |
|
| Other mutations in Spag6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Spag6
|
APN |
2 |
18,738,995 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02795:Spag6
|
APN |
2 |
18,737,894 (GRCm39) |
missense |
probably benign |
|
|
IGL03406:Spag6
|
APN |
2 |
18,747,684 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Spag6
|
UTSW |
2 |
18,715,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0423:Spag6
|
UTSW |
2 |
18,715,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1309:Spag6
|
UTSW |
2 |
18,739,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Spag6
|
UTSW |
2 |
18,739,057 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1568:Spag6
|
UTSW |
2 |
18,737,925 (GRCm39) |
missense |
probably benign |
|
|
R1716:Spag6
|
UTSW |
2 |
18,750,420 (GRCm39) |
splice site |
probably null |
|
|
R1771:Spag6
|
UTSW |
2 |
18,738,928 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1911:Spag6
|
UTSW |
2 |
18,720,616 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Spag6
|
UTSW |
2 |
18,736,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Spag6
|
UTSW |
2 |
18,738,916 (GRCm39) |
unclassified |
probably benign |
|
|
R2131:Spag6
|
UTSW |
2 |
18,737,908 (GRCm39) |
nonsense |
probably null |
|
|
R3705:Spag6
|
UTSW |
2 |
18,715,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4230:Spag6
|
UTSW |
2 |
18,720,449 (GRCm39) |
splice site |
probably null |
|
|
R4585:Spag6
|
UTSW |
2 |
18,736,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4586:Spag6
|
UTSW |
2 |
18,736,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4692:Spag6
|
UTSW |
2 |
18,704,054 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4745:Spag6
|
UTSW |
2 |
18,742,107 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4890:Spag6
|
UTSW |
2 |
18,747,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Spag6
|
UTSW |
2 |
18,750,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4918:Spag6
|
UTSW |
2 |
18,750,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5086:Spag6
|
UTSW |
2 |
18,747,688 (GRCm39) |
splice site |
probably benign |
|
|
R5264:Spag6
|
UTSW |
2 |
18,750,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5729:Spag6
|
UTSW |
2 |
18,720,525 (GRCm39) |
missense |
probably benign |
|
|
R5754:Spag6
|
UTSW |
2 |
18,703,613 (GRCm39) |
unclassified |
probably benign |
|
|
R5781:Spag6
|
UTSW |
2 |
18,736,804 (GRCm39) |
missense |
probably benign |
|
|
R5954:Spag6
|
UTSW |
2 |
18,715,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Spag6
|
UTSW |
2 |
18,703,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7607:Spag6
|
UTSW |
2 |
18,736,773 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8261:Spag6
|
UTSW |
2 |
18,750,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8411:Spag6
|
UTSW |
2 |
18,715,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Spag6
|
UTSW |
2 |
18,738,928 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9275:Spag6
|
UTSW |
2 |
18,703,985 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9278:Spag6
|
UTSW |
2 |
18,703,985 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9413:Spag6
|
UTSW |
2 |
18,739,029 (GRCm39) |
missense |
probably benign |
|
|
R9451:Spag6
|
UTSW |
2 |
18,715,369 (GRCm39) |
nonsense |
probably null |
|
|
R9660:Spag6
|
UTSW |
2 |
18,704,047 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2013-10-07 |
Incidental Mutation