Incidental Mutation 'R4230:Spag6'
| ID |
320765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag6
|
| Ensembl Gene |
ENSMUSG00000037708 |
| Gene Name |
sperm associated antigen 6 |
| Synonyms |
BC061194, Spag6l |
| MMRRC Submission |
041049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18698808-18754561 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 18720449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095132]
[ENSMUST00000095132]
[ENSMUST00000173763]
[ENSMUST00000173763]
|
| AlphaFold |
Q3V0U9 |
| Predicted Effect |
probably null
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 |
probably null
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 |
probably null
Transcript: ENSMUST00000173763
|
| SMART Domains |
Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173763
|
| SMART Domains |
Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,555,534 (GRCm39) |
I223N |
probably damaging |
Het |
| Ankrd26 |
G |
C |
6: 118,536,349 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
T |
C |
7: 105,216,891 (GRCm39) |
D264G |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,168,770 (GRCm39) |
Y918H |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,829,919 (GRCm39) |
T584P |
probably damaging |
Het |
| Atxn7 |
G |
A |
14: 14,100,381 (GRCm38) |
S689N |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,606,837 (GRCm39) |
N873S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,987 (GRCm38) |
I857F |
probably damaging |
Het |
| Cfap119 |
T |
A |
7: 127,186,002 (GRCm39) |
M102L |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,229 (GRCm39) |
T511A |
probably benign |
Het |
| Dppa3 |
A |
T |
6: 122,606,291 (GRCm39) |
N118I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,234,909 (GRCm39) |
N3663D |
probably benign |
Het |
| Eif1ad14 |
A |
T |
12: 87,886,567 (GRCm39) |
S21T |
unknown |
Het |
| Eme1 |
G |
A |
11: 94,538,818 (GRCm39) |
T354M |
possibly damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Itln1 |
G |
A |
1: 171,362,375 (GRCm39) |
T2I |
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,618,180 (GRCm39) |
M309K |
possibly damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,194,852 (GRCm39) |
C162F |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,015,915 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,259 (GRCm39) |
Y3402N |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,253 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Onecut3 |
T |
C |
10: 80,349,793 (GRCm39) |
I429T |
probably damaging |
Het |
| Or2n1 |
A |
C |
17: 38,486,772 (GRCm39) |
I266L |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,188 (GRCm39) |
Y195H |
probably damaging |
Het |
| Or4k37 |
T |
G |
2: 111,159,475 (GRCm39) |
L237R |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,787,329 (GRCm39) |
S858P |
possibly damaging |
Het |
| Phf11c |
A |
T |
14: 59,630,516 (GRCm39) |
V63E |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,620,264 (GRCm39) |
F802L |
possibly damaging |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Sec61a1 |
A |
T |
6: 88,492,413 (GRCm39) |
|
probably null |
Het |
| Slc45a3 |
T |
A |
1: 131,909,399 (GRCm39) |
L532Q |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,048 (GRCm39) |
I292V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,747,956 (GRCm39) |
|
probably null |
Het |
| Spi1 |
T |
C |
2: 90,945,680 (GRCm39) |
F254L |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,901,216 (GRCm39) |
T292A |
probably damaging |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,554,464 (GRCm39) |
I30784V |
possibly damaging |
Het |
| Urod |
T |
A |
4: 116,849,880 (GRCm39) |
T173S |
probably benign |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,041,912 (GRCm39) |
I268L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,320,292 (GRCm39) |
T1101M |
probably benign |
Het |
| Zc3h12c |
T |
A |
9: 52,055,728 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATTTGCAGAAAGTCCCATG -3'
(R):5'- ATATATGCAAGTGCCCAGGC -3'
Sequencing Primer
(F):5'- AGTTTGAAACTGACCTTGCTTCTAGG -3'
(R):5'- GCTGCAGCCTCCTTGAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation