Incidental Mutation 'R3705:Spag6'
| ID |
258686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag6
|
| Ensembl Gene |
ENSMUSG00000037708 |
| Gene Name |
sperm associated antigen 6 |
| Synonyms |
BC061194, Spag6l |
| MMRRC Submission |
040698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3705 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
18698808-18754561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18715368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 49
(Y49C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095132]
[ENSMUST00000173763]
|
| AlphaFold |
Q3V0U9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095132
AA Change: Y71C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092751
Gene: ENSMUSG00000037708
AA Change: Y71C
| 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 damaging
Transcript: ENSMUST00000173763
AA Change: Y49C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133383
Gene: ENSMUSG00000037708
AA Change: Y49C
| 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 |
|
| Meta Mutation Damage Score |
0.1638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,324,864 (GRCm39) |
D1538G |
probably damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Csf3r |
A |
G |
4: 125,926,078 (GRCm39) |
D221G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,607,020 (GRCm39) |
V2566I |
possibly damaging |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Fam133b |
T |
C |
5: 3,611,034 (GRCm39) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
| Grm1 |
G |
A |
10: 10,658,473 (GRCm39) |
T339I |
possibly damaging |
Het |
| Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,862,416 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,040,705 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,418,781 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,896,147 (GRCm39) |
N1473S |
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,134,166 (GRCm39) |
K423E |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,961,341 (GRCm39) |
S584P |
probably damaging |
Het |
| Nipal4 |
T |
C |
11: 46,052,678 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,931,300 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,948 (GRCm39) |
S150P |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,362,412 (GRCm39) |
I12V |
probably benign |
Het |
| Pdgfc |
T |
C |
3: 81,111,751 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
T |
9: 44,605,691 (GRCm39) |
H1323N |
probably damaging |
Het |
| Ppp1r14c |
A |
G |
10: 3,373,524 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,345 (GRCm39) |
T209A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,183,030 (GRCm39) |
V414E |
probably damaging |
Het |
| Riok3 |
A |
G |
18: 12,282,011 (GRCm39) |
M327V |
probably benign |
Het |
| Sf3b4 |
T |
C |
3: 96,083,944 (GRCm39) |
|
probably benign |
Het |
| Syngap1 |
T |
C |
17: 27,178,994 (GRCm39) |
S495P |
probably damaging |
Het |
| Tedc2 |
A |
G |
17: 24,435,361 (GRCm39) |
S343P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,959,153 (GRCm39) |
D1132V |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Top1 |
G |
A |
2: 160,544,744 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
| Tph2 |
G |
A |
10: 114,955,798 (GRCm39) |
Q332* |
probably null |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACTGAATATGTGCAGAATCAC -3'
(R):5'- AAATGCCTTTAAGTCCCAAAGC -3'
Sequencing Primer
(F):5'- TGTGCAGAATCACATGTTTTGC -3'
(R):5'- GGGATTCAAGGTTCTACTAGCATTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation