Incidental Mutation 'IGL02506:Spag4'
| ID |
296324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spag4
|
| Ensembl Gene |
ENSMUSG00000038180 |
| Gene Name |
sperm associated antigen 4 |
| Synonyms |
Sun4, 1700041K21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
155907108-155911421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155911142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 390
(L390P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038860]
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000147627]
[ENSMUST00000138178]
[ENSMUST00000137966]
[ENSMUST00000136296]
[ENSMUST00000184265]
[ENSMUST00000132494]
|
| AlphaFold |
Q9JJF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038860
AA Change: L390P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180
AA Change: L390P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
166 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
222 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
293 |
426 |
1.9e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079312
|
| SMART Domains |
Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109607
|
| SMART Domains |
Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109608
|
| SMART Domains |
Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126513
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127956
|
| SMART Domains |
Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
|
RRM
|
217 |
287 |
1.05e-1 |
SMART |
|
RRM
|
343 |
415 |
2.73e-7 |
SMART |
|
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147627
|
| SMART Domains |
Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
137 |
242 |
8.76e-12 |
SMART |
|
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140109
|
| SMART Domains |
Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Copine
|
1 |
148 |
2.1e-50 |
PFAM |
|
Pfam:vWA-TerF-like
|
5 |
111 |
2.5e-7 |
PFAM |
|
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137966
|
| SMART Domains |
Protein: ENSMUSP00000118715
Gene: ENSMUSG00000038180
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
transmembrane domain
|
72 |
94 |
N/A |
INTRINSIC |
|
coiled coil region
|
112 |
147 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136296
|
| SMART Domains |
Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
C2
|
123 |
218 |
7.88e-5 |
SMART |
|
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184265
|
| SMART Domains |
Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132494
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
|
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
RRM
|
305 |
375 |
1.05e-1 |
SMART |
|
RRM
|
431 |
503 |
2.73e-7 |
SMART |
|
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184933
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show disrupted spermiogenesis, severe defects in sperm head formation, abnormal manchette morphology, globozoospermia, and male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,916 (GRCm39) |
E189G |
possibly damaging |
Het |
| Acad11 |
T |
C |
9: 103,968,931 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
G |
T |
8: 89,044,571 (GRCm39) |
R488L |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,625,714 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
C |
T |
7: 140,682,167 (GRCm39) |
|
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,953,820 (GRCm39) |
D182G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,585,456 (GRCm39) |
V127D |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,319,955 (GRCm39) |
M1407T |
probably damaging |
Het |
| Card9 |
A |
C |
2: 26,244,427 (GRCm39) |
|
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,864,454 (GRCm39) |
N472D |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,379 (GRCm39) |
T343S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,990,282 (GRCm39) |
C1928S |
probably benign |
Het |
| Clk3 |
C |
T |
9: 57,661,927 (GRCm39) |
W31* |
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,595,349 (GRCm39) |
T489A |
probably benign |
Het |
| Crispld1 |
G |
A |
1: 17,826,529 (GRCm39) |
R431H |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,436,199 (GRCm39) |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 89,456,218 (GRCm39) |
T423A |
possibly damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,198 (GRCm39) |
I84N |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,757,507 (GRCm39) |
N141D |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,055,162 (GRCm39) |
L341Q |
probably damaging |
Het |
| F3 |
C |
T |
3: 121,525,323 (GRCm39) |
T53I |
possibly damaging |
Het |
| Fam227b |
T |
A |
2: 125,845,831 (GRCm39) |
Y386F |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,355,640 (GRCm39) |
T694S |
unknown |
Het |
| Gcnt2 |
T |
A |
13: 41,040,856 (GRCm39) |
V5E |
probably benign |
Het |
| Herpud1 |
G |
T |
8: 95,121,270 (GRCm39) |
E355* |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,843,144 (GRCm39) |
S752P |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,649,057 (GRCm39) |
I687V |
possibly damaging |
Het |
| Kdm5a |
T |
C |
6: 120,409,110 (GRCm39) |
S1598P |
probably damaging |
Het |
| Klk1b9 |
A |
G |
7: 43,445,063 (GRCm39) |
E185G |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,440,217 (GRCm39) |
R423L |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,207 (GRCm39) |
E1609G |
probably damaging |
Het |
| Nom1 |
T |
A |
5: 29,644,814 (GRCm39) |
|
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,727,480 (GRCm39) |
I1040V |
possibly damaging |
Het |
| Or8b39 |
G |
A |
9: 37,996,741 (GRCm39) |
G203D |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,748 (GRCm39) |
V246A |
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,859,404 (GRCm39) |
D437V |
probably benign |
Het |
| Phldb1 |
G |
T |
9: 44,622,223 (GRCm39) |
D797E |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,374,132 (GRCm39) |
E1399G |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,460,198 (GRCm39) |
C97Y |
probably damaging |
Het |
| Plscr4 |
A |
T |
9: 92,372,044 (GRCm39) |
I272L |
possibly damaging |
Het |
| Prlhr |
A |
C |
19: 60,456,366 (GRCm39) |
Y67D |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,984,221 (GRCm39) |
|
probably benign |
Het |
| Rad23b |
T |
C |
4: 55,382,511 (GRCm39) |
V238A |
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,117,380 (GRCm39) |
T164A |
possibly damaging |
Het |
| Serpinh1 |
T |
A |
7: 98,996,199 (GRCm39) |
K295M |
probably damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,453,687 (GRCm39) |
E770G |
probably benign |
Het |
| Stip1 |
A |
G |
19: 7,012,857 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,380,739 (GRCm39) |
N50S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,613,443 (GRCm39) |
V433A |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,276,493 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,909,738 (GRCm39) |
I572K |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,917,308 (GRCm39) |
E3717D |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,335,232 (GRCm39) |
N1778S |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,095,965 (GRCm39) |
F1162Y |
probably damaging |
Het |
| Zbtb10 |
T |
A |
3: 9,330,297 (GRCm39) |
F552I |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,891 (GRCm39) |
I811V |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,195,871 (GRCm39) |
V116D |
probably benign |
Het |
|
| Other mutations in Spag4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01409:Spag4
|
APN |
2 |
155,911,252 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01843:Spag4
|
APN |
2 |
155,910,417 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02200:Spag4
|
APN |
2 |
155,908,517 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02570:Spag4
|
APN |
2 |
155,910,364 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03302:Spag4
|
APN |
2 |
155,910,340 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0127:Spag4
|
UTSW |
2 |
155,909,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0314:Spag4
|
UTSW |
2 |
155,909,229 (GRCm39) |
unclassified |
probably benign |
|
|
R0441:Spag4
|
UTSW |
2 |
155,909,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Spag4
|
UTSW |
2 |
155,907,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5270:Spag4
|
UTSW |
2 |
155,907,853 (GRCm39) |
intron |
probably benign |
|
|
R5293:Spag4
|
UTSW |
2 |
155,908,111 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6092:Spag4
|
UTSW |
2 |
155,907,696 (GRCm39) |
intron |
probably benign |
|
|
R7138:Spag4
|
UTSW |
2 |
155,908,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7300:Spag4
|
UTSW |
2 |
155,907,541 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7898:Spag4
|
UTSW |
2 |
155,911,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Spag4
|
UTSW |
2 |
155,908,493 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9025:Spag4
|
UTSW |
2 |
155,910,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation