Incidental Mutation 'R9413:Spag6'
ID |
711883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spag6
|
Ensembl Gene |
ENSMUSG00000037708 |
Gene Name |
sperm associated antigen 6 |
Synonyms |
BC061194, Spag6l |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R9413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
18698808-18754561 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 18739029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 320
(M320L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095132]
[ENSMUST00000173763]
|
AlphaFold |
Q3V0U9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095132
AA Change: M320L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092751 Gene: ENSMUSG00000037708 AA Change: M320L
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 benign
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,422 (GRCm39) |
T1194S |
probably benign |
Het |
Akr7a5 |
A |
T |
4: 139,038,059 (GRCm39) |
|
probably benign |
Het |
Ap3b2 |
G |
T |
7: 81,127,757 (GRCm39) |
P140T |
possibly damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,531 (GRCm39) |
|
probably null |
Het |
Arrdc2 |
C |
T |
8: 71,288,892 (GRCm39) |
R381H |
probably damaging |
Het |
Atg13 |
T |
C |
2: 91,511,970 (GRCm39) |
D286G |
probably benign |
Het |
C1qtnf4 |
T |
C |
2: 90,720,648 (GRCm39) |
F307S |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
Chsy3 |
C |
T |
18: 59,309,170 (GRCm39) |
A141V |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,772,278 (GRCm39) |
S706P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,917,705 (GRCm39) |
D545G |
|
Het |
Ephb6 |
T |
C |
6: 41,591,509 (GRCm39) |
L222P |
|
Het |
Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
Gm6619 |
A |
T |
6: 131,468,370 (GRCm39) |
D167V |
unknown |
Het |
Gucy2c |
T |
C |
6: 136,700,771 (GRCm39) |
D581G |
possibly damaging |
Het |
Hectd1 |
G |
A |
12: 51,792,880 (GRCm39) |
R2471* |
probably null |
Het |
Kif1a |
A |
T |
1: 92,949,019 (GRCm39) |
M1501K |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,392,321 (GRCm39) |
V390A |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Pex3 |
A |
G |
10: 13,410,454 (GRCm39) |
Y236H |
probably damaging |
Het |
Pglyrp3 |
G |
T |
3: 91,930,106 (GRCm39) |
A91S |
probably damaging |
Het |
Ppp1ca |
T |
C |
19: 4,244,897 (GRCm39) |
S292P |
probably damaging |
Het |
Prkci |
T |
C |
3: 31,097,915 (GRCm39) |
V455A |
probably damaging |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Psd4 |
C |
T |
2: 24,287,472 (GRCm39) |
T468I |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,357,059 (GRCm39) |
E4203G |
|
Het |
Snrnp27 |
T |
C |
6: 86,653,255 (GRCm39) |
D121G |
possibly damaging |
Het |
Spata16 |
T |
A |
3: 26,978,486 (GRCm39) |
M484K |
possibly damaging |
Het |
Trim69 |
G |
A |
2: 122,009,083 (GRCm39) |
W381* |
probably null |
Het |
Tubgcp3 |
A |
C |
8: 12,674,885 (GRCm39) |
I745S |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,204,607 (GRCm39) |
D156G |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,032,158 (GRCm39) |
N644S |
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 |
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 |
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 |
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'- CACCATTGCCAGGTAGTTTTAAG -3'
(R):5'- TCTGGGTGCATGGAAGTGAC -3'
Sequencing Primer
(F):5'- GCCAGGTAGTTTTAAGTACTAAACAG -3'
(R):5'- TCCTGGTGTCAGTCTATGG -3'
|
Posted On |
2022-05-16 |