Incidental Mutation 'R6482:Spag9'
| ID |
517173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag9
|
| Ensembl Gene |
ENSMUSG00000020859 |
| Gene Name |
sperm associated antigen 9 |
| Synonyms |
syd1, JIP4, Mapk8ip4, 4733401I23Rik, JLP, 3110018C07Rik, 4831406C20Rik |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_027569; MGI: 1918084 |
| Essential gene? |
Possibly essential
(E-score: 0.687)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93996091-94126085 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94093502 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 734
(F734L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024979]
[ENSMUST00000041956]
[ENSMUST00000075695]
[ENSMUST00000092777]
[ENSMUST00000103168]
[ENSMUST00000132079]
[ENSMUST00000153076]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024979
AA Change: F596L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024979
Gene: ENSMUSG00000020859
AA Change: F596L
| 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: F734L
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: F734L
| 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: F595L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075115
Gene: ENSMUSG00000020859
AA Change: F595L
| 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: F596L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090452
Gene: ENSMUSG00000020859
AA Change: F596L
| 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: F591L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099457
Gene: ENSMUSG00000020859
AA Change: F591L
| 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: F384L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118850
Gene: ENSMUSG00000020859
AA Change: F384L
| 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: F315L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117502
Gene: ENSMUSG00000020859
AA Change: F315L
| 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: F583L
|
| SMART Domains |
Protein: ENSMUSP00000115864
Gene: ENSMUSG00000020859
AA Change: F583L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 70,011,562 |
I415V |
probably benign |
Het |
| Akap8l |
A |
G |
17: 32,345,396 |
F6L |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,697,055 |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 45,942,788 |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,143,242 |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,890,489 |
P107L |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,841,973 |
H248R |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,601,314 |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,620,637 |
V321E |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,012,658 |
Y209N |
probably benign |
Het |
| Gm21936 |
A |
G |
12: 87,795,795 |
Y95C |
probably damaging |
Het |
| Gm35315 |
A |
T |
5: 110,078,089 |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,480,763 |
Q335R |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,356,686 |
L203P |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,794,270 |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,271,453 |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,445,864 |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,185,976 |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,000,871 |
V13I |
probably benign |
Het |
| Olfr1104 |
G |
C |
2: 87,022,525 |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,501,037 |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 68,239,067 |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,576,004 |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,516,737 |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,654,739 |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,429,607 |
T925A |
probably damaging |
Het |
| Rnf219 |
A |
T |
14: 104,479,817 |
C373* |
probably null |
Het |
| Tarbp1 |
A |
G |
8: 126,450,695 |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,412,745 |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,226,900 |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,634,921 |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,432,108 |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,844 |
S235P |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,692,692 |
S504G |
probably benign |
Het |
| Wnt5b |
A |
T |
6: 119,433,612 |
L289Q |
possibly damaging |
Het |
| Zfp142 |
G |
A |
1: 74,570,217 |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,719,648 |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,587,551 |
H335R |
probably benign |
Het |
|
| Other mutations in Spag9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Spag9
|
APN |
11 |
94097866 |
missense |
probably benign |
0.02 |
|
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 |
|
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 |
|
R8709:Spag9
|
UTSW |
11 |
94068090 |
missense |
probably benign |
0.02 |
|
R8732:Spag9
|
UTSW |
11 |
94071688 |
critical splice donor site |
probably null |
|
|
R8899:Spag9
|
UTSW |
11 |
94092869 |
missense |
probably damaging |
1.00 |
|
R8983:Spag9
|
UTSW |
11 |
94067989 |
missense |
probably benign |
|
|
R9043:Spag9
|
UTSW |
11 |
94060259 |
missense |
|
|
|
R9050:Spag9
|
UTSW |
11 |
94044468 |
missense |
probably damaging |
0.97 |
|
R9502:Spag9
|
UTSW |
11 |
94068966 |
missense |
probably damaging |
1.00 |
|
R9575:Spag9
|
UTSW |
11 |
94071583 |
missense |
probably damaging |
0.99 |
|
R9667:Spag9
|
UTSW |
11 |
93996293 |
missense |
possibly damaging |
0.83 |
|
R9683:Spag9
|
UTSW |
11 |
94097742 |
missense |
probably damaging |
1.00 |
|
R9774:Spag9
|
UTSW |
11 |
94114236 |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGGGGATCAATGTGCAC -3'
(R):5'- AGAGTTTTGCTTTACCTGGGAC -3'
Sequencing Primer
(F):5'- GGGGATCAATGTGCACTTATTTCCC -3'
(R):5'- CTTTACCTGGGACACTGGCAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation