Incidental Mutation 'IGL02666:Spam1'
| ID |
302752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spam1
|
| Ensembl Gene |
ENSMUSG00000029682 |
| Gene Name |
sperm adhesion molecule 1 |
| Synonyms |
Ph-20 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02666
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24796123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 25
(L25I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031693]
[ENSMUST00000202331]
[ENSMUST00000202569]
|
| AlphaFold |
P48794 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031693
AA Change: L25I
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: L25I
| 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 |
possibly damaging
Transcript: ENSMUST00000202331
AA Change: L25I
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: L25I
| 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 |
possibly damaging
Transcript: ENSMUST00000202569
AA Change: L25I
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: L25I
| 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 |
noncoding transcript
Transcript: ENSMUST00000202786
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230109A22Rik |
T |
C |
15: 25,138,944 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
G |
A |
7: 119,934,431 (GRCm39) |
V136M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,645,148 (GRCm39) |
I382T |
probably benign |
Het |
| Cux1 |
C |
A |
5: 136,304,169 (GRCm39) |
E1336* |
probably null |
Het |
| Cyb5r3 |
T |
C |
15: 83,044,554 (GRCm39) |
I155V |
probably damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,314 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dld |
T |
C |
12: 31,382,408 (GRCm39) |
N465S |
probably null |
Het |
| Dnmbp |
A |
G |
19: 43,842,566 (GRCm39) |
|
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,818,111 (GRCm39) |
H1580R |
probably benign |
Het |
| Drd3 |
C |
A |
16: 43,637,319 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
G |
T |
11: 42,420,322 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
T |
C |
5: 105,242,141 (GRCm39) |
|
probably null |
Het |
| Inhba |
A |
T |
13: 16,201,664 (GRCm39) |
I409F |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,764,564 (GRCm39) |
N1560S |
probably damaging |
Het |
| Itsn1 |
A |
G |
16: 91,617,606 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,678,938 (GRCm39) |
F434L |
probably damaging |
Het |
| Klra1 |
A |
G |
6: 130,341,278 (GRCm39) |
C232R |
probably damaging |
Het |
| Krt18 |
T |
A |
15: 101,938,302 (GRCm39) |
I175N |
probably damaging |
Het |
| Lck |
A |
G |
4: 129,450,212 (GRCm39) |
V178A |
probably damaging |
Het |
| Mroh4 |
C |
A |
15: 74,481,624 (GRCm39) |
G737V |
probably benign |
Het |
| Mug2 |
A |
C |
6: 122,058,285 (GRCm39) |
L1282F |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,832,187 (GRCm39) |
N2572S |
probably benign |
Het |
| Nup88 |
G |
T |
11: 70,834,695 (GRCm39) |
|
probably benign |
Het |
| Nxph3 |
G |
T |
11: 95,401,834 (GRCm39) |
H193Q |
possibly damaging |
Het |
| Or5b97 |
G |
T |
19: 12,878,221 (GRCm39) |
H308N |
probably benign |
Het |
| Orm2 |
A |
G |
4: 63,283,970 (GRCm39) |
T198A |
possibly damaging |
Het |
| Pom121 |
T |
C |
5: 135,415,686 (GRCm39) |
I397V |
unknown |
Het |
| Prex1 |
C |
A |
2: 166,414,909 (GRCm39) |
E1313D |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,145,378 (GRCm39) |
|
probably benign |
Het |
| Prl2a1 |
A |
T |
13: 27,990,310 (GRCm39) |
K86N |
possibly damaging |
Het |
| Ptpro |
G |
A |
6: 137,355,057 (GRCm39) |
S188N |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,209 (GRCm39) |
I1100F |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,719,188 (GRCm39) |
M4406I |
unknown |
Het |
| Sdf4 |
T |
A |
4: 156,093,281 (GRCm39) |
Y204* |
probably null |
Het |
| Serinc1 |
A |
T |
10: 57,400,089 (GRCm39) |
|
probably null |
Het |
| Slc39a5 |
C |
T |
10: 128,234,324 (GRCm39) |
R193H |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,689,888 (GRCm39) |
K36R |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,686,766 (GRCm39) |
S809R |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,231,252 (GRCm39) |
R35C |
probably damaging |
Het |
| Tcaf2 |
C |
A |
6: 42,606,058 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
C |
1: 19,174,979 (GRCm39) |
D144A |
probably benign |
Het |
| Tmprss11d |
A |
T |
5: 86,479,052 (GRCm39) |
V117D |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,903,913 (GRCm39) |
D1141G |
probably benign |
Het |
| Traf6 |
A |
T |
2: 101,527,512 (GRCm39) |
T421S |
possibly damaging |
Het |
| Txndc16 |
G |
A |
14: 45,448,607 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
G |
A |
1: 192,789,904 (GRCm39) |
Q752* |
probably null |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,865 (GRCm39) |
P228T |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,433 (GRCm39) |
I784T |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,795 (GRCm39) |
D5G |
probably benign |
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 |
|
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 |
|
R9783:Spam1
|
UTSW |
6 |
24,796,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation