Incidental Mutation 'R9667:Spag9'
ID |
727875 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.737)
|
Stock # |
R9667 (G1)
|
Quality Score |
106.008 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
93886917-94016911 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93887119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
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: V8A
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000042271 Gene: ENSMUSG00000020859 AA Change: V8A
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: 98.8%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,890,645 (GRCm39) |
Q355* |
probably null |
Het |
Aacs |
A |
T |
5: 125,580,691 (GRCm39) |
N255I |
possibly damaging |
Het |
Abcf2 |
A |
G |
5: 24,779,185 (GRCm39) |
L121P |
probably damaging |
Het |
Amigo1 |
A |
G |
3: 108,095,034 (GRCm39) |
I178V |
probably benign |
Het |
Ankrd13a |
T |
A |
5: 114,933,793 (GRCm39) |
N262K |
probably damaging |
Het |
Apba2 |
A |
G |
7: 64,345,062 (GRCm39) |
E84G |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,296,914 (GRCm39) |
L717* |
probably null |
Het |
Aspa |
A |
T |
11: 73,199,625 (GRCm39) |
C217* |
probably null |
Het |
Atp5mc3 |
A |
G |
2: 73,739,567 (GRCm39) |
I91T |
probably damaging |
Het |
Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
Cc2d2b |
A |
G |
19: 40,753,927 (GRCm39) |
Y150C |
unknown |
Het |
Ccdc180 |
C |
T |
4: 45,920,861 (GRCm39) |
Q936* |
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,370,115 (GRCm39) |
E1103G |
probably benign |
Het |
Cdca2 |
T |
C |
14: 67,915,003 (GRCm39) |
Q752R |
probably benign |
Het |
Ces1b |
A |
T |
8: 93,791,637 (GRCm39) |
S321T |
probably benign |
Het |
Cfap70 |
A |
T |
14: 20,490,690 (GRCm39) |
|
probably null |
Het |
Cpox |
C |
T |
16: 58,490,984 (GRCm39) |
T65I |
possibly damaging |
Het |
Crocc |
C |
T |
4: 140,748,988 (GRCm39) |
E1606K |
probably damaging |
Het |
Cryzl2 |
T |
G |
1: 157,316,038 (GRCm39) |
M337R |
probably benign |
Het |
Cyp4a29 |
C |
A |
4: 115,111,630 (GRCm39) |
A469D |
probably damaging |
Het |
Dnaaf1 |
T |
A |
8: 120,306,043 (GRCm39) |
Y107N |
possibly damaging |
Het |
Dpp6 |
T |
A |
5: 27,930,604 (GRCm39) |
I812N |
probably damaging |
Het |
Elovl5 |
A |
G |
9: 77,889,947 (GRCm39) |
T253A |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,530,717 (GRCm39) |
L450* |
probably null |
Het |
Fbxo31 |
C |
T |
8: 122,305,208 (GRCm39) |
R96H |
probably damaging |
Het |
Gls |
A |
T |
1: 52,230,036 (GRCm39) |
|
probably null |
Het |
Gm3045 |
G |
A |
13: 56,577,253 (GRCm39) |
E134K |
possibly damaging |
Het |
Gpr158 |
A |
G |
2: 21,830,054 (GRCm39) |
I700V |
probably damaging |
Het |
H2-Aa |
T |
C |
17: 34,502,295 (GRCm39) |
I209V |
probably benign |
Het |
Ifnar2 |
A |
G |
16: 91,184,984 (GRCm39) |
D125G |
probably benign |
Het |
Igsf8 |
C |
A |
1: 172,145,319 (GRCm39) |
D278E |
possibly damaging |
Het |
Inpp5d |
T |
C |
1: 87,623,128 (GRCm39) |
I407T |
probably damaging |
Het |
Iqcd |
A |
G |
5: 120,744,737 (GRCm39) |
E355G |
probably damaging |
Het |
Klra2 |
T |
A |
6: 131,219,836 (GRCm39) |
D115V |
probably benign |
Het |
Kmt2b |
T |
C |
7: 30,287,784 (GRCm39) |
E120G |
unknown |
Het |
Lhx6 |
A |
G |
2: 35,980,979 (GRCm39) |
I321T |
possibly damaging |
Het |
Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
Lztr1 |
T |
C |
16: 17,327,000 (GRCm39) |
Y37H |
probably damaging |
Het |
Malrd1 |
A |
T |
2: 15,570,026 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
C |
T |
11: 4,470,890 (GRCm39) |
V79I |
probably damaging |
Het |
Nbr1 |
A |
G |
11: 101,451,261 (GRCm39) |
I56M |
possibly damaging |
Het |
Ncor2 |
C |
T |
5: 125,125,545 (GRCm39) |
A580T |
unknown |
Het |
Ndst3 |
A |
G |
3: 123,353,866 (GRCm39) |
I601T |
possibly damaging |
Het |
Nectin4 |
C |
A |
1: 171,210,165 (GRCm39) |
P219Q |
probably damaging |
Het |
Nfatc4 |
T |
C |
14: 56,066,964 (GRCm39) |
V501A |
probably benign |
Het |
Nisch |
T |
C |
14: 30,895,646 (GRCm39) |
T1015A |
probably damaging |
Het |
Nr2c1 |
T |
C |
10: 94,017,479 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
C |
18: 36,165,430 (GRCm39) |
E394G |
probably benign |
Het |
Oas1e |
A |
G |
5: 120,932,347 (GRCm39) |
F99L |
probably benign |
Het |
Oaz3 |
A |
T |
3: 94,341,835 (GRCm39) |
Y178* |
probably null |
Het |
Or1e35 |
A |
G |
11: 73,798,097 (GRCm39) |
S74P |
possibly damaging |
Het |
Or6c69b |
A |
C |
10: 129,627,022 (GRCm39) |
S145R |
probably damaging |
Het |
Pcdhb20 |
C |
T |
18: 37,637,839 (GRCm39) |
H122Y |
probably benign |
Het |
Pdcd2 |
T |
A |
17: 15,747,535 (GRCm39) |
M1L |
probably damaging |
Het |
Phf11 |
T |
C |
14: 59,482,240 (GRCm39) |
N171S |
probably benign |
Het |
Plcd1 |
C |
A |
9: 118,901,698 (GRCm39) |
G609W |
probably damaging |
Het |
Plscr3 |
T |
C |
11: 69,738,631 (GRCm39) |
F98L |
probably benign |
Het |
Ppp1r8 |
T |
C |
4: 132,570,407 (GRCm39) |
N6S |
probably benign |
Het |
Prpf38b |
G |
A |
3: 108,818,859 (GRCm39) |
|
probably benign |
Het |
Rin2 |
T |
A |
2: 145,702,202 (GRCm39) |
N299K |
possibly damaging |
Het |
Serpina1d |
T |
G |
12: 103,734,299 (GRCm39) |
T2P |
probably benign |
Het |
Slc22a16 |
A |
G |
10: 40,461,125 (GRCm39) |
D330G |
probably benign |
Het |
Slit1 |
G |
A |
19: 41,731,832 (GRCm39) |
Q6* |
probably null |
Het |
Spaca7b |
T |
A |
8: 11,705,681 (GRCm39) |
E142V |
probably benign |
Het |
Spsb3 |
C |
T |
17: 25,105,784 (GRCm39) |
T44I |
unknown |
Het |
Srrt |
T |
C |
5: 137,295,732 (GRCm39) |
Y563C |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,792,443 (GRCm39) |
V80A |
probably benign |
Het |
Tdpoz3 |
G |
A |
3: 93,733,336 (GRCm39) |
D4N |
possibly damaging |
Het |
Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
Tmem132d |
G |
A |
5: 128,061,375 (GRCm39) |
T409I |
possibly damaging |
Het |
Tmem245 |
G |
T |
4: 56,947,119 (GRCm39) |
T98K |
probably damaging |
Het |
Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
Trim25 |
A |
T |
11: 88,907,188 (GRCm39) |
I516F |
probably damaging |
Het |
Trim3 |
G |
A |
7: 105,267,455 (GRCm39) |
S308L |
possibly damaging |
Het |
Ttll9 |
C |
T |
2: 152,831,989 (GRCm39) |
R189* |
probably null |
Het |
Ttpal |
T |
C |
2: 163,449,596 (GRCm39) |
|
probably null |
Het |
Ubl4b |
A |
T |
3: 107,461,911 (GRCm39) |
H116Q |
probably benign |
Het |
Unc80 |
C |
A |
1: 66,651,287 (GRCm39) |
T1544K |
possibly damaging |
Het |
Usp2 |
T |
C |
9: 44,003,487 (GRCm39) |
|
probably null |
Het |
Usp25 |
T |
C |
16: 76,874,123 (GRCm39) |
|
probably null |
Het |
Vmn1r167 |
C |
T |
7: 23,204,990 (GRCm39) |
V9I |
probably benign |
Het |
Vmn2r87 |
A |
G |
10: 130,314,776 (GRCm39) |
I270T |
probably damaging |
Het |
Vps35l |
G |
A |
7: 118,348,915 (GRCm39) |
|
probably null |
Het |
Wdr24 |
A |
G |
17: 26,046,301 (GRCm39) |
D515G |
possibly damaging |
Het |
Wdr81 |
T |
C |
11: 75,341,650 (GRCm39) |
T87A |
|
Het |
Zcchc14 |
A |
T |
8: 122,331,863 (GRCm39) |
L500Q |
unknown |
Het |
Zzef1 |
A |
G |
11: 72,758,786 (GRCm39) |
T1242A |
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 |
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 |
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'- GTTGTCAGTCTTCAGAGCCC -3'
(R):5'- AACACCGAGTCCAGGTTCTC -3'
Sequencing Primer
(F):5'- GGTGTTGGCGTCACAGC -3'
(R):5'- AGTCCAGGTTCTCCAGCAC -3'
|
Posted On |
2022-10-06 |