Incidental Mutation 'R4417:Spag9'
ID |
326895 |
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 |
041138-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.737)
|
Stock # |
R4417 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
93886917-94016911 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 93951172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024979]
[ENSMUST00000041956]
[ENSMUST00000075695]
[ENSMUST00000092777]
[ENSMUST00000103168]
[ENSMUST00000132079]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024979
|
SMART Domains |
Protein: ENSMUSP00000024979 Gene: ENSMUSG00000020859
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
|
SMART Domains |
Protein: ENSMUSP00000042271 Gene: ENSMUSG00000020859
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
|
SMART Domains |
Protein: ENSMUSP00000075115 Gene: ENSMUSG00000020859
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
|
SMART Domains |
Protein: ENSMUSP00000090452 Gene: ENSMUSG00000020859
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
|
SMART Domains |
Protein: ENSMUSP00000099457 Gene: ENSMUSG00000020859
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 |
noncoding transcript
Transcript: ENSMUST00000127066
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156019
|
SMART Domains |
Protein: ENSMUSP00000115864 Gene: ENSMUSG00000020859
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (53/53) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
Epx |
T |
A |
11: 87,760,256 (GRCm39) |
R453* |
probably null |
Het |
Fez1 |
T |
C |
9: 36,781,768 (GRCm39) |
|
probably benign |
Het |
G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
Mfsd12 |
A |
G |
10: 81,200,537 (GRCm39) |
|
probably benign |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
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 |
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 |
R5814:Spag9
|
UTSW |
11 |
93,973,654 (GRCm39) |
missense |
possibly damaging |
0.94 |
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'- GGCAAGAGTCACTGTACGTG -3'
(R):5'- AGACTTTTCACAGGATGCACTTAC -3'
Sequencing Primer
(F):5'- ACTCTCATTTTAAACCCAGGAGG -3'
(R):5'- TCACAGGATGCACTTACATTTTAAG -3'
|
Posted On |
2015-07-07 |