Incidental Mutation 'IGL03406:Spag6'
| ID |
421617 |
| 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 # |
IGL03406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18698808-18754561 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 18747684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095132]
|
| AlphaFold |
Q3V0U9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095132
|
| SMART Domains |
Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
| 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 |
noncoding transcript
Transcript: ENSMUST00000174811
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530016L24Rik |
T |
A |
12: 112,463,317 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
C |
T |
8: 89,044,947 (GRCm39) |
R228* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,014,378 (GRCm39) |
H132R |
probably benign |
Het |
| Cfap107 |
A |
G |
4: 144,150,414 (GRCm39) |
Y56H |
probably damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,459,500 (GRCm39) |
I78T |
probably benign |
Het |
| Fap |
A |
T |
2: 62,372,466 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
C |
T |
10: 99,280,641 (GRCm39) |
|
noncoding transcript |
Het |
| Gli3 |
T |
C |
13: 15,823,166 (GRCm39) |
I296T |
probably damaging |
Het |
| H2-Q2 |
T |
C |
17: 35,561,801 (GRCm39) |
V97A |
probably benign |
Het |
| Hr |
T |
A |
14: 70,800,860 (GRCm39) |
|
probably null |
Het |
| Itgax |
C |
T |
7: 127,748,370 (GRCm39) |
T1133I |
possibly damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,566,194 (GRCm39) |
R339H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,873,615 (GRCm39) |
K1726E |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,203,483 (GRCm39) |
Y528H |
probably benign |
Het |
| Nmnat3 |
G |
A |
9: 98,281,530 (GRCm39) |
G44D |
probably damaging |
Het |
| Nol8 |
A |
T |
13: 49,815,044 (GRCm39) |
D366V |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,424 (GRCm39) |
L68M |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 110,091,125 (GRCm39) |
|
probably benign |
Het |
| Ptpn22 |
C |
A |
3: 103,819,332 (GRCm39) |
N795K |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,549,739 (GRCm39) |
V289D |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,177,408 (GRCm39) |
D40G |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,875,310 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcad1 |
T |
A |
6: 65,069,510 (GRCm39) |
F530Y |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,415,598 (GRCm39) |
I379N |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,567 (GRCm39) |
N39S |
probably benign |
Het |
| Ubash3b |
T |
A |
9: 40,948,775 (GRCm39) |
Y180F |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,556 (GRCm39) |
T366A |
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,450 (GRCm39) |
C419S |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,788,281 (GRCm39) |
T345A |
probably benign |
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 |
|
IGL01352:Spag6
|
APN |
2 |
18,715,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02795:Spag6
|
APN |
2 |
18,737,894 (GRCm39) |
missense |
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 |
2016-08-02 |
Incidental Mutation