Incidental Mutation 'R7655:Spag9'
| ID |
591148 |
| 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 |
045731-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.737)
|
| Stock # |
R7655 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
93886917-94016911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93887389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 98
(H98P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041956]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041956
AA Change: H98P
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: H98P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
A |
G |
4: 56,804,218 (GRCm39) |
I78V |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,691 (GRCm39) |
Y400C |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,059,080 (GRCm39) |
M237V |
|
Het |
| Atrnl1 |
C |
A |
19: 57,599,811 (GRCm39) |
S9* |
probably null |
Het |
| BC031181 |
A |
T |
18: 75,142,406 (GRCm39) |
K71* |
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,707,940 (GRCm39) |
T21A |
probably benign |
Het |
| Brpf1 |
A |
T |
6: 113,291,835 (GRCm39) |
M294L |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,789,410 (GRCm39) |
D382A |
possibly damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,025,748 (GRCm39) |
R94W |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,823 (GRCm39) |
L225Q |
probably damaging |
Het |
| Chsy1 |
G |
T |
7: 65,820,778 (GRCm39) |
V338F |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,846 (GRCm39) |
I170V |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,443,590 (GRCm39) |
Q492K |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,581,273 (GRCm39) |
V3168L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,535,164 (GRCm39) |
S2699G |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,807,886 (GRCm39) |
K1402E |
possibly damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,493 (GRCm39) |
A127T |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,149,572 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,276,253 (GRCm39) |
M1637L |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,459 (GRCm39) |
D998E |
probably benign |
Het |
| Krtcap3 |
A |
G |
5: 31,409,904 (GRCm39) |
T157A |
probably damaging |
Het |
| Luc7l2 |
A |
G |
6: 38,580,399 (GRCm39) |
R333G |
unknown |
Het |
| Mdc1 |
T |
G |
17: 36,161,773 (GRCm39) |
S895R |
probably benign |
Het |
| Mef2a |
G |
A |
7: 66,945,142 (GRCm39) |
T80M |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,011 (GRCm39) |
L1026P |
probably damaging |
Het |
| Mtbp |
G |
T |
15: 55,472,922 (GRCm39) |
V629L |
unknown |
Het |
| Ncapd3 |
T |
A |
9: 26,966,801 (GRCm39) |
I545N |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,089,542 (GRCm39) |
T1291M |
|
Het |
| Or10z1 |
T |
A |
1: 174,077,784 (GRCm39) |
K236N |
probably damaging |
Het |
| Or5b123 |
A |
T |
19: 13,597,197 (GRCm39) |
I181F |
probably damaging |
Het |
| Orc3 |
G |
T |
4: 34,587,032 (GRCm39) |
C352* |
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,550 (GRCm39) |
G490D |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,458 (GRCm39) |
T473S |
probably benign |
Het |
| Phkg2 |
G |
A |
7: 127,182,074 (GRCm39) |
G365D |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,281 (GRCm39) |
E82G |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,911 (GRCm39) |
F471I |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,284,018 (GRCm39) |
C196R |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,633,552 (GRCm39) |
F14L |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,894,418 (GRCm39) |
L9P |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,688,849 (GRCm39) |
F881I |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,750,044 (GRCm39) |
I363T |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,659,090 (GRCm39) |
E134G |
probably damaging |
Het |
| Rapgef6 |
C |
T |
11: 54,585,279 (GRCm39) |
P1559L |
probably benign |
Het |
| Rnf180 |
T |
C |
13: 105,304,096 (GRCm39) |
K507E |
probably damaging |
Het |
| Rpl3l |
T |
C |
17: 24,949,960 (GRCm39) |
I53T |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,442 (GRCm39) |
I1466V |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,284,559 (GRCm39) |
Y100H |
probably damaging |
Het |
| Selenoh |
G |
T |
2: 84,500,724 (GRCm39) |
R39S |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,690,982 (GRCm39) |
F587I |
possibly damaging |
Het |
| Smoc1 |
A |
T |
12: 81,152,682 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,122 (GRCm39) |
K401N |
probably benign |
Het |
| T2 |
T |
A |
17: 8,637,047 (GRCm39) |
C337* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,377 (GRCm39) |
Y455C |
probably damaging |
Het |
| Thbd |
A |
G |
2: 148,249,340 (GRCm39) |
L176P |
probably damaging |
Het |
| Tmem116 |
A |
G |
5: 121,590,252 (GRCm39) |
|
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,709,640 (GRCm39) |
V54I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,233 (GRCm39) |
V378I |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,779,422 (GRCm39) |
W3129C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,558,660 (GRCm39) |
D29740E |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,833,233 (GRCm39) |
C3073Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,560,189 (GRCm39) |
D388E |
probably benign |
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 |
|
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 |
|
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'- GCTACGATGAGGAGGTGGTC -3'
(R):5'- GATGCCAGAGTGTCGCTTCC -3'
Sequencing Primer
(F):5'- TCAAGGAGCTGATGCCACTG -3'
(R):5'- TCTCCTGGACACTCGCTGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation