Incidental Mutation 'R1697:Spag9'
| ID |
192345 |
| 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 |
039730-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.737)
|
| Stock # |
R1697 (G1)
|
| Quality Score |
118 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
93886917-94016911 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93887391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 99
(A99T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041956]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041956
AA Change: A99T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042271
Gene: ENSMUSG00000020859
AA Change: A99T
| 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 |
noncoding transcript
Transcript: ENSMUST00000132605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132772
|
| Meta Mutation Damage Score |
0.1458 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,928 (GRCm39) |
D250E |
probably damaging |
Het |
| 4930571K23Rik |
A |
G |
7: 124,968,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl3 |
T |
C |
1: 78,683,114 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,220,792 (GRCm39) |
T244K |
probably damaging |
Het |
| Adam26b |
T |
A |
8: 43,974,000 (GRCm39) |
N334I |
probably damaging |
Het |
| Adgrl4 |
C |
T |
3: 151,223,248 (GRCm39) |
T608M |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,716,404 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,599,436 (GRCm39) |
T1890A |
possibly damaging |
Het |
| Capn7 |
C |
T |
14: 31,082,117 (GRCm39) |
T441M |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,441,367 (GRCm39) |
C85S |
probably damaging |
Het |
| Chrm3 |
T |
C |
13: 9,928,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,757,376 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,530 (GRCm39) |
V422A |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,337,124 (GRCm39) |
S437P |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,171,464 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,856,176 (GRCm39) |
I3869L |
probably benign |
Het |
| Fbxw5 |
T |
A |
2: 25,392,473 (GRCm39) |
V85E |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,772 (GRCm39) |
C1579S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,704,456 (GRCm39) |
D268G |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,225 (GRCm39) |
L1772P |
probably damaging |
Het |
| Gtf3a |
C |
A |
5: 146,888,723 (GRCm39) |
Q145K |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,342,957 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
A |
7: 55,803,653 (GRCm39) |
F2229L |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,996,080 (GRCm39) |
I249L |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,786,752 (GRCm39) |
Y7* |
probably null |
Het |
| Irag2 |
A |
G |
6: 145,083,341 (GRCm39) |
|
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,619,750 (GRCm39) |
M103K |
probably benign |
Het |
| Krt5 |
A |
G |
15: 101,619,020 (GRCm39) |
V287A |
probably benign |
Het |
| Lgals12 |
T |
A |
19: 7,581,530 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,593,379 (GRCm39) |
V264A |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,712,695 (GRCm39) |
D3099G |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,984,369 (GRCm39) |
T169I |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,540 (GRCm39) |
|
probably benign |
Het |
| Myef2l |
G |
A |
3: 10,154,613 (GRCm39) |
V461I |
possibly damaging |
Het |
| Myh7b |
A |
C |
2: 155,462,054 (GRCm39) |
S317R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,361,872 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or1j17 |
C |
T |
2: 36,578,259 (GRCm39) |
L82F |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,502 (GRCm39) |
S293R |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,270 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,929 (GRCm39) |
I15N |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,737 (GRCm39) |
T186A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,577,087 (GRCm39) |
Y982H |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,541 (GRCm39) |
L312P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,267,710 (GRCm39) |
P754S |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,512,057 (GRCm39) |
L145* |
probably null |
Het |
| Ppp2r5c |
T |
A |
12: 110,527,906 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
C |
4: 143,935,162 (GRCm39) |
I193S |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,446 (GRCm39) |
M553V |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,715,514 (GRCm39) |
D664E |
possibly damaging |
Het |
| Stim1 |
T |
G |
7: 102,003,713 (GRCm39) |
C49G |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,701,740 (GRCm39) |
I238V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfb2m |
T |
A |
1: 179,372,464 (GRCm39) |
E133V |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,497,867 (GRCm39) |
C143S |
probably benign |
Het |
| Tnr |
T |
G |
1: 159,679,600 (GRCm39) |
N191K |
probably benign |
Het |
| Vars1 |
C |
T |
17: 35,217,198 (GRCm39) |
A419T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,041 (GRCm39) |
S819G |
probably benign |
Het |
| Wls |
T |
C |
3: 159,602,995 (GRCm39) |
V136A |
probably benign |
Het |
| Ybx2 |
C |
T |
11: 69,830,887 (GRCm39) |
S217L |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,779 (GRCm39) |
D37G |
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 |
|
|
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 |
|
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'- GGTGGTCAAGGAGCTGATGCCACTG -3'
(R):5'- AGATGCCAGAGTGTCGCTTCCTCCC -3'
Sequencing Primer
(F):5'- AGAACCTGGACTCGGTGT -3'
(R):5'- CTCCTGGACACTCGCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation