Incidental Mutation 'R5047:Spag1'
| ID |
394425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spag1
|
| Ensembl Gene |
ENSMUSG00000037617 |
| Gene Name |
sperm associated antigen 1 |
| Synonyms |
TPR-containing protein involved in spermatogenesis, tpis |
| MMRRC Submission |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36178245-36235767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36195588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 260
(Q260H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047348]
[ENSMUST00000171205]
|
| AlphaFold |
Q80ZX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047348
AA Change: Q260H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047335
Gene: ENSMUSG00000037617
AA Change: Q260H
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
1.88e0 |
SMART |
|
TPR
|
247 |
279 |
3.47e-4 |
SMART |
|
TPR
|
280 |
313 |
8.23e-6 |
SMART |
|
low complexity region
|
383 |
400 |
N/A |
INTRINSIC |
|
TPR
|
430 |
463 |
5.92e1 |
SMART |
|
TPR
|
472 |
505 |
2.49e-5 |
SMART |
|
TPR
|
506 |
539 |
5.31e0 |
SMART |
|
TPR
|
606 |
639 |
7.63e-1 |
SMART |
|
TPR
|
640 |
673 |
1.38e-7 |
SMART |
|
Pfam:RPAP3_C
|
777 |
869 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171205
AA Change: Q260H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132233
Gene: ENSMUSG00000037617
AA Change: Q260H
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
213 |
246 |
1.88e0 |
SMART |
|
TPR
|
247 |
279 |
3.47e-4 |
SMART |
|
TPR
|
280 |
313 |
8.23e-6 |
SMART |
|
low complexity region
|
383 |
400 |
N/A |
INTRINSIC |
|
TPR
|
430 |
463 |
5.92e1 |
SMART |
|
TPR
|
472 |
505 |
2.49e-5 |
SMART |
|
TPR
|
506 |
539 |
5.31e0 |
SMART |
|
TPR
|
606 |
639 |
7.63e-1 |
SMART |
|
TPR
|
640 |
673 |
1.38e-7 |
SMART |
|
Pfam:RPAP3_C
|
777 |
869 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227524
|
| Meta Mutation Damage Score |
0.1173 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
probably null |
Het |
|
| Other mutations in Spag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Spag1
|
APN |
15 |
36,195,562 (GRCm39) |
nonsense |
probably null |
|
|
IGL00465:Spag1
|
APN |
15 |
36,183,967 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00694:Spag1
|
APN |
15 |
36,227,317 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01479:Spag1
|
APN |
15 |
36,233,345 (GRCm39) |
splice site |
probably benign |
|
|
IGL01830:Spag1
|
APN |
15 |
36,221,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02072:Spag1
|
APN |
15 |
36,190,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Spag1
|
APN |
15 |
36,221,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02727:Spag1
|
APN |
15 |
36,234,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02810:Spag1
|
APN |
15 |
36,234,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Spag1
|
APN |
15 |
36,233,419 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03069:Spag1
|
APN |
15 |
36,224,245 (GRCm39) |
splice site |
probably benign |
|
|
IGL03244:Spag1
|
APN |
15 |
36,234,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:Spag1
|
UTSW |
15 |
36,197,879 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R0863:Spag1
|
UTSW |
15 |
36,192,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Spag1
|
UTSW |
15 |
36,234,913 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1878:Spag1
|
UTSW |
15 |
36,181,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Spag1
|
UTSW |
15 |
36,181,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Spag1
|
UTSW |
15 |
36,227,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2093:Spag1
|
UTSW |
15 |
36,224,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2231:Spag1
|
UTSW |
15 |
36,191,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4030:Spag1
|
UTSW |
15 |
36,234,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4893:Spag1
|
UTSW |
15 |
36,197,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5505:Spag1
|
UTSW |
15 |
36,234,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5741:Spag1
|
UTSW |
15 |
36,183,849 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5805:Spag1
|
UTSW |
15 |
36,200,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6221:Spag1
|
UTSW |
15 |
36,197,949 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6236:Spag1
|
UTSW |
15 |
36,211,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6556:Spag1
|
UTSW |
15 |
36,195,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Spag1
|
UTSW |
15 |
36,197,895 (GRCm39) |
nonsense |
probably null |
|
|
R7737:Spag1
|
UTSW |
15 |
36,210,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8397:Spag1
|
UTSW |
15 |
36,197,895 (GRCm39) |
nonsense |
probably null |
|
|
R9164:Spag1
|
UTSW |
15 |
36,216,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Spag1
|
UTSW |
15 |
36,181,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Spag1
|
UTSW |
15 |
36,190,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9773:Spag1
|
UTSW |
15 |
36,234,711 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Spag1
|
UTSW |
15 |
36,186,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTTTGCAGAGCCCCTCAC -3'
(R):5'- GCAGTTTACAGTGTTCCCCAC -3'
Sequencing Primer
(F):5'- AGAGCCCCTCACCACTGTG -3'
(R):5'- ACAGTCCATCATGGTCATGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation