Incidental Mutation 'R9783:Spam1'
| ID |
734160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spam1
|
| Ensembl Gene |
ENSMUSG00000029682 |
| Gene Name |
sperm adhesion molecule 1 |
| Synonyms |
Ph-20 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24796226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 59
(R59H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031693]
[ENSMUST00000202331]
[ENSMUST00000202569]
|
| AlphaFold |
P48794 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031693
AA Change: R59H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: R59H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
42 |
373 |
4.5e-136 |
PFAM |
|
Blast:EGF
|
376 |
439 |
5e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202331
AA Change: R59H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: R59H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
42 |
373 |
4.5e-136 |
PFAM |
|
Blast:EGF
|
376 |
439 |
5e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202569
AA Change: R59H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: R59H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_56
|
42 |
373 |
4.5e-136 |
PFAM |
|
Blast:EGF
|
376 |
439 |
5e-13 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male homozygotes for a targeted null mutation are normally fertile, but in vitro their sperm are slower at clearing cells from the cumulus mass. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1)
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdkn2aip |
A |
G |
8: 48,164,090 (GRCm39) |
V541A |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,711,118 (GRCm39) |
D1499E |
probably damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,438 (GRCm39) |
S248P |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,458,865 (GRCm39) |
I1076N |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,440,720 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,602 (GRCm39) |
G255D |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,911,342 (GRCm39) |
T954A |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,484,296 (GRCm39) |
L65P |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,208,128 (GRCm39) |
Y1307H |
possibly damaging |
Het |
| Gckr |
G |
A |
5: 31,466,399 (GRCm39) |
S458N |
probably benign |
Het |
| Gpx4 |
T |
C |
10: 79,890,851 (GRCm39) |
V181A |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,598,380 (GRCm39) |
E1641K |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,946,787 (GRCm39) |
I409T |
probably damaging |
Het |
| Ighv8-9 |
C |
T |
12: 115,431,994 (GRCm39) |
V106M |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,190,709 (GRCm39) |
E384G |
|
Het |
| Lyz3 |
T |
C |
10: 117,073,653 (GRCm39) |
N60S |
possibly damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,057,934 (GRCm39) |
L803P |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,985,053 (GRCm39) |
|
probably benign |
Het |
| Or1j16 |
A |
G |
2: 36,530,161 (GRCm39) |
T37A |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,610 (GRCm39) |
F240I |
probably benign |
Het |
| Otof |
T |
C |
5: 30,536,576 (GRCm39) |
K1302E |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,242,174 (GRCm39) |
V192A |
probably benign |
Het |
| Plxdc2 |
C |
T |
2: 16,674,349 (GRCm39) |
Q310* |
probably null |
Het |
| Pola2 |
C |
T |
19: 5,990,904 (GRCm39) |
V597M |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,321,444 (GRCm39) |
Y549F |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,910,920 (GRCm39) |
M155T |
probably benign |
Het |
| Scap |
C |
T |
9: 110,202,132 (GRCm39) |
H167Y |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,329,128 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc13a2 |
T |
A |
11: 78,294,177 (GRCm39) |
T235S |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,513 (GRCm39) |
S215P |
probably damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,662,005 (GRCm39) |
C347R |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,887,890 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,840 (GRCm39) |
L458M |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,392,227 (GRCm39) |
I2042F |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,230,513 (GRCm39) |
T312K |
probably damaging |
Het |
|
| Other mutations in Spam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00535:Spam1
|
APN |
6 |
24,796,722 (GRCm39) |
nonsense |
probably null |
|
|
IGL02152:Spam1
|
APN |
6 |
24,800,802 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02377:Spam1
|
APN |
6 |
24,796,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Spam1
|
APN |
6 |
24,796,123 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02968:Spam1
|
APN |
6 |
24,796,442 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03004:Spam1
|
APN |
6 |
24,796,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Spam1
|
APN |
6 |
24,797,010 (GRCm39) |
splice site |
probably benign |
|
|
I2288:Spam1
|
UTSW |
6 |
24,796,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
I2289:Spam1
|
UTSW |
6 |
24,796,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0279:Spam1
|
UTSW |
6 |
24,800,418 (GRCm39) |
missense |
probably benign |
|
|
R0454:Spam1
|
UTSW |
6 |
24,797,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0486:Spam1
|
UTSW |
6 |
24,796,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Spam1
|
UTSW |
6 |
24,796,948 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0811:Spam1
|
UTSW |
6 |
24,796,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Spam1
|
UTSW |
6 |
24,796,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1294:Spam1
|
UTSW |
6 |
24,796,906 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1703:Spam1
|
UTSW |
6 |
24,796,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Spam1
|
UTSW |
6 |
24,796,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Spam1
|
UTSW |
6 |
24,796,846 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2762:Spam1
|
UTSW |
6 |
24,796,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2970:Spam1
|
UTSW |
6 |
24,796,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Spam1
|
UTSW |
6 |
24,800,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4664:Spam1
|
UTSW |
6 |
24,796,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4923:Spam1
|
UTSW |
6 |
24,796,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Spam1
|
UTSW |
6 |
24,800,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5589:Spam1
|
UTSW |
6 |
24,796,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5591:Spam1
|
UTSW |
6 |
24,800,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5861:Spam1
|
UTSW |
6 |
24,796,570 (GRCm39) |
missense |
probably benign |
|
|
R6481:Spam1
|
UTSW |
6 |
24,796,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6564:Spam1
|
UTSW |
6 |
24,796,355 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6754:Spam1
|
UTSW |
6 |
24,796,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7103:Spam1
|
UTSW |
6 |
24,800,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7462:Spam1
|
UTSW |
6 |
24,796,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7559:Spam1
|
UTSW |
6 |
24,800,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Spam1
|
UTSW |
6 |
24,796,970 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8677:Spam1
|
UTSW |
6 |
24,796,984 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9356:Spam1
|
UTSW |
6 |
24,800,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Spam1
|
UTSW |
6 |
24,797,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Spam1
|
UTSW |
6 |
24,800,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGGACAGACCACAGTGTG -3'
(R):5'- AATCGCCCCTCTGAGGTATTCC -3'
Sequencing Primer
(F):5'- TGTGTAAGAAGGAATAAGTGCCTAC -3'
(R):5'- AGGTATTCCTCCATAATGTTCTGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation