Incidental Mutation 'IGL00422:Spag9'
| ID | 4515 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Spag9
|
|---|
| Ensembl Gene |
ENSMUSG00000020859 |
|---|
| Gene Name | sperm associated antigen 9 |
|---|
| Synonyms | syd1, JIP4, Mapk8ip4, 4733401I23Rik, JLP, 3110018C07Rik, 4831406C20Rik |
|---|
| Accession Numbers | Genbank: NM_027569; MGI: 1918084 |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.779)
|
|---|
| Stock # | IGL00422
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 11 |
|---|
| Chromosomal Location | 93996091-94126085 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 94097866 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 571
(F571I)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118850
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024979]
[ENSMUST00000041956]
[ENSMUST00000075695]
[ENSMUST00000092777]
[ENSMUST00000103168]
[ENSMUST00000132079]
[ENSMUST00000153076]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024979
AA Change: F783I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: F783I
| 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 |
probably benign
Transcript: ENSMUST00000041956
AA Change: F921I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: F921I
| 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 |
probably benign
Transcript: ENSMUST00000075695
AA Change: F782I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: F782I
| 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 |
probably benign
Transcript: ENSMUST00000092777
AA Change: F783I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: F783I
| 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 |
probably benign
Transcript: ENSMUST00000103168
AA Change: F778I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: F778I
| 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
AA Change: F571I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859
AA Change: F571I
| 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 |
probably benign
Transcript: ENSMUST00000153076
AA Change: F502I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: F502I
| 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: F770I
|
|---|
| SMART Domains |
Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859
AA Change: F770I
| 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 |
|
|---|
| Validation Efficiency |
|
|---|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,068,186 |
A359T |
probably damaging |
Het |
| Ajuba |
A |
T |
14: 54,571,769 |
Y400* |
probably null |
Het |
| Cckar |
T |
A |
5: 53,699,829 |
D342V |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,798,449 |
V253A |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,227,167 |
D461G |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,859,106 |
E2399K |
probably damaging |
Het |
| Cln8 |
G |
A |
8: 14,896,637 |
C217Y |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,758,029 |
V2119A |
possibly damaging |
Het |
| Dhx33 |
T |
C |
11: 71,001,620 |
S108G |
probably benign |
Het |
| Dip2a |
T |
A |
10: 76,313,236 |
M194L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,068,096 |
K1779R |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,055,681 |
F328V |
possibly damaging |
Het |
| Flad1 |
A |
G |
3: 89,405,853 |
|
probably null |
Het |
| Gm5346 |
A |
G |
8: 43,626,351 |
F279L |
probably damaging |
Het |
| Gm7535 |
G |
T |
17: 17,911,888 |
|
probably benign |
Het |
| Gnpat |
A |
G |
8: 124,885,013 |
E513G |
probably damaging |
Het |
| H2-M5 |
A |
G |
17: 36,987,840 |
I238T |
probably damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,675,427 |
R114Q |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,276,532 |
I903V |
unknown |
Het |
| Ifi209 |
T |
G |
1: 173,638,963 |
D120E |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,668,469 |
D248G |
probably damaging |
Het |
| Mat2b |
C |
A |
11: 40,687,738 |
G41C |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 132,040,594 |
I369V |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,126,098 |
V1480E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,069,490 |
D127V |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,669,066 |
V422E |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 30,081,104 |
A228T |
probably damaging |
Het |
| Rad17 |
A |
T |
13: 100,629,525 |
I365K |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,629,523 |
S366T |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 |
G30E |
possibly damaging |
Het |
| Slco1a6 |
A |
C |
6: 142,161,017 |
C15G |
probably benign |
Het |
| Ttc27 |
T |
A |
17: 74,780,816 |
C459S |
probably damaging |
Het |
| Washc2 |
A |
G |
6: 116,256,676 |
T888A |
probably benign |
Het |
| Zcchc7 |
A |
T |
4: 44,931,318 |
H490L |
possibly damaging |
Het |
|
|---|
| Other mutations in Spag9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01776:Spag9
|
APN |
11 |
94116727 |
splice site |
probably benign |
|
|
IGL02095:Spag9
|
APN |
11 |
94108582 |
missense |
probably damaging |
1.00 |
|
IGL02307:Spag9
|
APN |
11 |
94102160 |
critical splice donor site |
probably null |
|
|
IGL02417:Spag9
|
APN |
11 |
94116741 |
missense |
probably benign |
0.27 |
|
IGL02480:Spag9
|
APN |
11 |
94108587 |
nonsense |
probably null |
|
|
IGL02864:Spag9
|
APN |
11 |
94106661 |
missense |
probably damaging |
1.00 |
|
IGL02976:Spag9
|
APN |
11 |
94083953 |
missense |
probably benign |
0.30 |
|
IGL02979:Spag9
|
APN |
11 |
94097364 |
missense |
probably benign |
|
|
IGL03349:Spag9
|
APN |
11 |
94093509 |
missense |
possibly damaging |
0.51 |
|
dazzle
|
UTSW |
11 |
94093624 |
nonsense |
probably null |
|
|
R0128:Spag9
|
UTSW |
11 |
94093539 |
missense |
probably damaging |
1.00 |
|
R0418:Spag9
|
UTSW |
11 |
94091753 |
splice site |
probably benign |
|
|
R1463:Spag9
|
UTSW |
11 |
94116837 |
missense |
probably damaging |
1.00 |
|
R1593:Spag9
|
UTSW |
11 |
94097233 |
missense |
probably damaging |
1.00 |
|
R1605:Spag9
|
UTSW |
11 |
94048539 |
missense |
probably damaging |
0.99 |
|
R1649:Spag9
|
UTSW |
11 |
94108452 |
splice site |
probably null |
|
|
R1697:Spag9
|
UTSW |
11 |
93996565 |
missense |
probably benign |
0.00 |
|
R1952:Spag9
|
UTSW |
11 |
94097358 |
missense |
possibly damaging |
0.77 |
|
R2011:Spag9
|
UTSW |
11 |
94092375 |
nonsense |
probably null |
|
|
R2012:Spag9
|
UTSW |
11 |
94092375 |
nonsense |
probably null |
|
|
R2351:Spag9
|
UTSW |
11 |
94092900 |
missense |
probably damaging |
1.00 |
|
R2367:Spag9
|
UTSW |
11 |
94116757 |
missense |
probably damaging |
1.00 |
|
R3027:Spag9
|
UTSW |
11 |
94086377 |
missense |
probably null |
1.00 |
|
R3766:Spag9
|
UTSW |
11 |
94060283 |
intron |
probably benign |
|
|
R3777:Spag9
|
UTSW |
11 |
94099026 |
critical splice acceptor site |
probably null |
|
|
R3937:Spag9
|
UTSW |
11 |
94044417 |
missense |
possibly damaging |
0.94 |
|
R3937:Spag9
|
UTSW |
11 |
94044479 |
missense |
possibly damaging |
0.92 |
|
R4417:Spag9
|
UTSW |
11 |
94060346 |
intron |
probably benign |
|
|
R4445:Spag9
|
UTSW |
11 |
94097253 |
missense |
possibly damaging |
0.95 |
|
R4711:Spag9
|
UTSW |
11 |
94114351 |
critical splice donor site |
probably null |
|
|
R4799:Spag9
|
UTSW |
11 |
94048516 |
missense |
possibly damaging |
0.87 |
|
R4799:Spag9
|
UTSW |
11 |
94048517 |
missense |
probably damaging |
0.96 |
|
R4816:Spag9
|
UTSW |
11 |
94048599 |
intron |
probably benign |
|
|
R4843:Spag9
|
UTSW |
11 |
94097818 |
missense |
probably damaging |
1.00 |
|
R5020:Spag9
|
UTSW |
11 |
94097786 |
missense |
probably benign |
0.08 |
|
R5119:Spag9
|
UTSW |
11 |
94122722 |
missense |
probably damaging |
1.00 |
|
R5298:Spag9
|
UTSW |
11 |
94100135 |
missense |
probably damaging |
1.00 |
|
R5304:Spag9
|
UTSW |
11 |
94069012 |
missense |
probably damaging |
1.00 |
|
R5305:Spag9
|
UTSW |
11 |
94069012 |
missense |
probably damaging |
1.00 |
|
R5395:Spag9
|
UTSW |
11 |
94091751 |
splice site |
probably null |
|
|
R5636:Spag9
|
UTSW |
11 |
94069012 |
missense |
probably damaging |
1.00 |
|
R5638:Spag9
|
UTSW |
11 |
94069012 |
missense |
probably damaging |
1.00 |
|
R5654:Spag9
|
UTSW |
11 |
94090712 |
missense |
probably damaging |
1.00 |
|
R5779:Spag9
|
UTSW |
11 |
94114253 |
missense |
probably benign |
0.20 |
|
R5814:Spag9
|
UTSW |
11 |
94082828 |
missense |
possibly damaging |
0.94 |
|
R5912:Spag9
|
UTSW |
11 |
94044425 |
missense |
probably damaging |
0.98 |
|
R6038:Spag9
|
UTSW |
11 |
94112092 |
missense |
probably damaging |
1.00 |
|
R6038:Spag9
|
UTSW |
11 |
94112092 |
missense |
probably damaging |
1.00 |
|
R6269:Spag9
|
UTSW |
11 |
94044507 |
missense |
probably benign |
0.05 |
|
R6294:Spag9
|
UTSW |
11 |
94093485 |
critical splice acceptor site |
probably null |
|
|
R6389:Spag9
|
UTSW |
11 |
94086311 |
missense |
probably damaging |
1.00 |
|
R6420:Spag9
|
UTSW |
11 |
94086302 |
missense |
probably damaging |
1.00 |
|
R6460:Spag9
|
UTSW |
11 |
94068975 |
missense |
probably damaging |
1.00 |
|
R6482:Spag9
|
UTSW |
11 |
94093502 |
missense |
possibly damaging |
0.94 |
|
R6860:Spag9
|
UTSW |
11 |
94081370 |
missense |
probably benign |
0.25 |
|
R7086:Spag9
|
UTSW |
11 |
94097864 |
missense |
probably benign |
|
|
R7179:Spag9
|
UTSW |
11 |
94089432 |
splice site |
probably null |
|
|
R7225:Spag9
|
UTSW |
11 |
94097358 |
missense |
probably damaging |
0.98 |
|
R7351:Spag9
|
UTSW |
11 |
94092976 |
missense |
probably benign |
0.00 |
|
R7366:Spag9
|
UTSW |
11 |
94108521 |
missense |
possibly damaging |
0.56 |
|
R7378:Spag9
|
UTSW |
11 |
94114351 |
critical splice donor site |
probably null |
|
|
R7401:Spag9
|
UTSW |
11 |
94097689 |
missense |
probably benign |
|
|
R7506:Spag9
|
UTSW |
11 |
94108464 |
missense |
probably damaging |
1.00 |
|
R7507:Spag9
|
UTSW |
11 |
94068080 |
missense |
probably benign |
0.00 |
|
R7513:Spag9
|
UTSW |
11 |
94112083 |
missense |
probably damaging |
1.00 |
|
R7655:Spag9
|
UTSW |
11 |
93996563 |
missense |
possibly damaging |
0.56 |
|
R7656:Spag9
|
UTSW |
11 |
93996563 |
missense |
possibly damaging |
0.56 |
|
R7664:Spag9
|
UTSW |
11 |
94102160 |
critical splice donor site |
probably null |
|
|
R7665:Spag9
|
UTSW |
11 |
94013654 |
missense |
probably damaging |
0.98 |
|
R7862:Spag9
|
UTSW |
11 |
94112066 |
missense |
possibly damaging |
0.69 |
|
R8074:Spag9
|
UTSW |
11 |
94112051 |
missense |
probably damaging |
1.00 |
|
R8085:Spag9
|
UTSW |
11 |
94099044 |
missense |
probably benign |
|
|
R8469:Spag9
|
UTSW |
11 |
94091801 |
missense |
probably damaging |
1.00 |
|
R8547:Spag9
|
UTSW |
11 |
94122821 |
missense |
possibly damaging |
0.84 |
|
|---|
| Posted On | 2012-04-20 |
|---|
