Incidental Mutation 'R5814:Spag9'
| ID |
447700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag9
|
| Ensembl Gene |
ENSMUSG00000020859 |
| Gene Name |
sperm associated antigen 9 |
| Synonyms |
JLP, Mapk8ip4, 3110018C07Rik, JIP4, 4733401I23Rik, syd1, 4831406C20Rik |
| MMRRC Submission |
043396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.785)
|
| Stock # |
R5814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93886917-94016911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93973654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 14
(V14E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024979]
[ENSMUST00000041956]
[ENSMUST00000075695]
[ENSMUST00000092777]
[ENSMUST00000103168]
[ENSMUST00000132079]
[ENSMUST00000153076]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024979
AA Change: V294E
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: V294E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
253 |
305 |
1e-25 |
PDB |
|
low complexity region
|
306 |
339 |
N/A |
INTRINSIC |
|
coiled coil region
|
572 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
751 |
N/A |
INTRINSIC |
|
SCOP:d1kb0a2
|
823 |
969 |
3e-5 |
SMART |
|
Blast:WD40
|
924 |
964 |
8e-18 |
BLAST |
|
low complexity region
|
1132 |
1150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041956
AA Change: V433E
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: V433E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Jnk-SapK_ap_N
|
24 |
179 |
2e-61 |
PFAM |
|
Pfam:JIP_LZII
|
390 |
460 |
5.3e-32 |
PFAM |
|
coiled coil region
|
710 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
873 |
889 |
N/A |
INTRINSIC |
|
SCOP:d1kb0a2
|
961 |
1107 |
1e-5 |
SMART |
|
Blast:WD40
|
1062 |
1102 |
1e-17 |
BLAST |
|
low complexity region
|
1270 |
1288 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075695
AA Change: V294E
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: V294E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
253 |
305 |
1e-25 |
PDB |
|
low complexity region
|
306 |
339 |
N/A |
INTRINSIC |
|
coiled coil region
|
571 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
750 |
N/A |
INTRINSIC |
|
SCOP:d1kb0a2
|
822 |
968 |
3e-5 |
SMART |
|
Blast:WD40
|
923 |
963 |
7e-18 |
BLAST |
|
low complexity region
|
1131 |
1149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092777
AA Change: V295E
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: V295E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
254 |
306 |
1e-25 |
PDB |
|
low complexity region
|
307 |
340 |
N/A |
INTRINSIC |
|
coiled coil region
|
572 |
606 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
751 |
N/A |
INTRINSIC |
|
SCOP:d1kb0a2
|
823 |
969 |
3e-5 |
SMART |
|
Blast:WD40
|
924 |
964 |
7e-18 |
BLAST |
|
low complexity region
|
1132 |
1150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103168
AA Change: V290E
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: V290E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2W83|D
|
249 |
301 |
1e-25 |
PDB |
|
low complexity region
|
302 |
335 |
N/A |
INTRINSIC |
|
coiled coil region
|
567 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
746 |
N/A |
INTRINSIC |
|
SCOP:d1kb0a2
|
818 |
964 |
3e-5 |
SMART |
|
Blast:WD40
|
919 |
959 |
8e-18 |
BLAST |
|
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132079
|
| SMART Domains |
Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138154
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153076
AA Change: V14E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: V14E
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2W83|D
|
1 |
25 |
4e-8 |
PDB |
|
low complexity region
|
26 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
291 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
470 |
N/A |
INTRINSIC |
|
SCOP:d1kb0a2
|
542 |
688 |
3e-5 |
SMART |
|
Blast:WD40
|
643 |
683 |
1e-17 |
BLAST |
|
low complexity region
|
864 |
882 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156019
AA Change: V282E
|
| SMART Domains |
Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859
AA Change: V282E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JIP_LZII
|
240 |
310 |
1.1e-32 |
PFAM |
|
coiled coil region
|
559 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
739 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
91% (52/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Male mice homozygous for a null mutation display reduced fertility with oligoasthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, knock-out(1) Gene trapped(4) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,811 (GRCm39) |
D135G |
probably benign |
Het |
| Arrdc3 |
G |
T |
13: 81,038,698 (GRCm39) |
R220L |
possibly damaging |
Het |
| Bace1 |
A |
G |
9: 45,771,562 (GRCm39) |
D458G |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,034,880 (GRCm39) |
Y1360C |
probably benign |
Het |
| Ccnb1-ps |
T |
C |
7: 41,756,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209b |
T |
C |
8: 3,973,348 (GRCm39) |
E112G |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,117,478 (GRCm39) |
L1176Q |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,387,607 (GRCm39) |
Y214C |
probably damaging |
Het |
| Clvs2 |
G |
T |
10: 33,404,503 (GRCm39) |
Q238K |
probably benign |
Het |
| Creb3l3 |
C |
T |
10: 80,921,496 (GRCm39) |
V350M |
probably benign |
Het |
| Crot |
A |
C |
5: 9,023,996 (GRCm39) |
D373E |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,289,694 (GRCm39) |
I187N |
probably damaging |
Het |
| Degs1l |
G |
A |
1: 180,882,663 (GRCm39) |
V142I |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,369,102 (GRCm39) |
A4291D |
possibly damaging |
Het |
| Dnmt3b |
A |
T |
2: 153,514,417 (GRCm39) |
E403D |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,075,757 (GRCm39) |
I43K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,626,940 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Erp27 |
A |
T |
6: 136,888,564 (GRCm39) |
V138E |
possibly damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,785 (GRCm39) |
A487V |
probably benign |
Het |
| Gm10142 |
C |
A |
10: 77,551,957 (GRCm39) |
T106N |
probably damaging |
Het |
| Gxylt2 |
C |
A |
6: 100,710,196 (GRCm39) |
H112Q |
probably damaging |
Het |
| Hexim2 |
G |
A |
11: 103,029,209 (GRCm39) |
R87Q |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,305 (GRCm39) |
N399S |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,199,516 (GRCm39) |
I302F |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,622 (GRCm39) |
|
probably null |
Het |
| Krtap19-9a |
T |
C |
16: 88,721,002 (GRCm39) |
|
noncoding transcript |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,503,621 (GRCm39) |
A164T |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,253,734 (GRCm39) |
G269D |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
G |
T |
16: 90,827,384 (GRCm39) |
R420S |
probably damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,391,597 (GRCm39) |
S38R |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,306,922 (GRCm39) |
V1082A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,269,629 (GRCm39) |
E3305G |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,074,543 (GRCm39) |
W250R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,993,725 (GRCm39) |
|
probably null |
Het |
| Rpsa |
A |
G |
9: 119,957,551 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,275,680 (GRCm39) |
I262V |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,396,826 (GRCm39) |
L1663* |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,911 (GRCm39) |
V755I |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
T |
6: 48,428,818 (GRCm39) |
Q411L |
probably damaging |
Het |
| Sycp1 |
A |
C |
3: 102,803,213 (GRCm39) |
S532R |
probably benign |
Het |
| Taf6l |
C |
A |
19: 8,752,210 (GRCm39) |
A493S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,570,603 (GRCm39) |
D574G |
probably benign |
Het |
| Ttll10 |
T |
A |
4: 156,132,084 (GRCm39) |
K117N |
possibly damaging |
Het |
| Uqcc5 |
A |
G |
14: 30,846,477 (GRCm39) |
|
probably null |
Het |
| Utp4 |
T |
A |
8: 107,638,907 (GRCm39) |
I405K |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,474,475 (GRCm39) |
Y851F |
probably benign |
Het |
| Vps33a |
T |
C |
5: 123,703,119 (GRCm39) |
D168G |
probably damaging |
Het |
|
| Other mutations in Spag9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Spag9
|
APN |
11 |
93,988,692 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01776:Spag9
|
APN |
11 |
94,007,553 (GRCm39) |
splice site |
probably benign |
|
|
IGL02095:Spag9
|
APN |
11 |
93,999,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02307:Spag9
|
APN |
11 |
93,992,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02417:Spag9
|
APN |
11 |
94,007,567 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02480:Spag9
|
APN |
11 |
93,999,413 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Spag9
|
APN |
11 |
93,997,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Spag9
|
APN |
11 |
93,974,779 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02979:Spag9
|
APN |
11 |
93,988,190 (GRCm39) |
missense |
probably benign |
|
|
IGL03349:Spag9
|
APN |
11 |
93,984,335 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
dazzle
|
UTSW |
11 |
93,984,450 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Spag9
|
UTSW |
11 |
93,984,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Spag9
|
UTSW |
11 |
93,982,579 (GRCm39) |
splice site |
probably benign |
|
|
R1463:Spag9
|
UTSW |
11 |
94,007,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1593:Spag9
|
UTSW |
11 |
93,988,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Spag9
|
UTSW |
11 |
93,939,365 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1649:Spag9
|
UTSW |
11 |
93,999,278 (GRCm39) |
splice site |
probably null |
|
|
R1697:Spag9
|
UTSW |
11 |
93,887,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1952:Spag9
|
UTSW |
11 |
93,988,184 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2011:Spag9
|
UTSW |
11 |
93,983,201 (GRCm39) |
nonsense |
probably null |
|
|
R2012:Spag9
|
UTSW |
11 |
93,983,201 (GRCm39) |
nonsense |
probably null |
|
|
R2351:Spag9
|
UTSW |
11 |
93,983,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Spag9
|
UTSW |
11 |
94,007,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3027:Spag9
|
UTSW |
11 |
93,977,203 (GRCm39) |
missense |
probably null |
1.00 |
|
R3766:Spag9
|
UTSW |
11 |
93,951,109 (GRCm39) |
intron |
probably benign |
|
|
R3777:Spag9
|
UTSW |
11 |
93,989,852 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3937:Spag9
|
UTSW |
11 |
93,935,305 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3937:Spag9
|
UTSW |
11 |
93,935,243 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4417:Spag9
|
UTSW |
11 |
93,951,172 (GRCm39) |
intron |
probably benign |
|
|
R4445:Spag9
|
UTSW |
11 |
93,988,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4711:Spag9
|
UTSW |
11 |
94,005,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4799:Spag9
|
UTSW |
11 |
93,939,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4799:Spag9
|
UTSW |
11 |
93,939,342 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4816:Spag9
|
UTSW |
11 |
93,939,425 (GRCm39) |
intron |
probably benign |
|
|
R4843:Spag9
|
UTSW |
11 |
93,988,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Spag9
|
UTSW |
11 |
93,988,612 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5119:Spag9
|
UTSW |
11 |
94,013,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Spag9
|
UTSW |
11 |
93,990,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Spag9
|
UTSW |
11 |
93,959,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Spag9
|
UTSW |
11 |
93,959,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Spag9
|
UTSW |
11 |
93,982,577 (GRCm39) |
splice site |
probably null |
|
|
R5636:Spag9
|
UTSW |
11 |
93,959,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5638:Spag9
|
UTSW |
11 |
93,959,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Spag9
|
UTSW |
11 |
93,981,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Spag9
|
UTSW |
11 |
94,005,079 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5912:Spag9
|
UTSW |
11 |
93,935,251 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6038:Spag9
|
UTSW |
11 |
94,002,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Spag9
|
UTSW |
11 |
94,002,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Spag9
|
UTSW |
11 |
93,935,333 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6294:Spag9
|
UTSW |
11 |
93,984,311 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6389:Spag9
|
UTSW |
11 |
93,977,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6420:Spag9
|
UTSW |
11 |
93,977,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6460:Spag9
|
UTSW |
11 |
93,959,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Spag9
|
UTSW |
11 |
93,984,328 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6860:Spag9
|
UTSW |
11 |
93,972,196 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7086:Spag9
|
UTSW |
11 |
93,988,690 (GRCm39) |
missense |
probably benign |
|
|
R7179:Spag9
|
UTSW |
11 |
93,980,258 (GRCm39) |
splice site |
probably null |
|
|
R7225:Spag9
|
UTSW |
11 |
93,988,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7351:Spag9
|
UTSW |
11 |
93,983,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7366:Spag9
|
UTSW |
11 |
93,999,347 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7378:Spag9
|
UTSW |
11 |
94,005,177 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7401:Spag9
|
UTSW |
11 |
93,988,515 (GRCm39) |
missense |
probably benign |
|
|
R7506:Spag9
|
UTSW |
11 |
93,999,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Spag9
|
UTSW |
11 |
93,958,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7513:Spag9
|
UTSW |
11 |
94,002,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Spag9
|
UTSW |
11 |
93,887,389 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7656:Spag9
|
UTSW |
11 |
93,887,389 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7664:Spag9
|
UTSW |
11 |
93,992,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7665:Spag9
|
UTSW |
11 |
93,904,480 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7862:Spag9
|
UTSW |
11 |
94,002,892 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8074:Spag9
|
UTSW |
11 |
94,002,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Spag9
|
UTSW |
11 |
93,989,870 (GRCm39) |
missense |
probably benign |
|
|
R8469:Spag9
|
UTSW |
11 |
93,982,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8547:Spag9
|
UTSW |
11 |
94,013,647 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8709:Spag9
|
UTSW |
11 |
93,958,916 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8732:Spag9
|
UTSW |
11 |
93,962,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8899:Spag9
|
UTSW |
11 |
93,983,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Spag9
|
UTSW |
11 |
93,958,815 (GRCm39) |
missense |
probably benign |
|
|
R9043:Spag9
|
UTSW |
11 |
93,951,085 (GRCm39) |
missense |
|
|
|
R9050:Spag9
|
UTSW |
11 |
93,935,294 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9502:Spag9
|
UTSW |
11 |
93,959,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Spag9
|
UTSW |
11 |
93,962,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9667:Spag9
|
UTSW |
11 |
93,887,119 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9683:Spag9
|
UTSW |
11 |
93,988,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Spag9
|
UTSW |
11 |
94,005,062 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTAGGTTGGCAAGTATGAAGAGC -3'
(R):5'- AGGCGTTTAGTTCAGAGCAG -3'
Sequencing Primer
(F):5'- TTGTAGTGCACAGTCTAGT -3'
(R):5'- GGAGTGTATCCCAAGGTAGCTATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation