Incidental Mutation 'IGL03004:Spam1'
| ID |
407479 |
| 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 # |
IGL03004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24796913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 288
(V288A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031693]
[ENSMUST00000202331]
[ENSMUST00000202569]
|
| AlphaFold |
P48794 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031693
AA Change: V288A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: V288A
| 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 damaging
Transcript: ENSMUST00000202331
AA Change: V288A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: V288A
| 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 damaging
Transcript: ENSMUST00000202569
AA Change: V288A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: V288A
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
| Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
| F8 |
C |
T |
X: 74,255,658 (GRCm39) |
G2045D |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
| Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
| Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
| Pip4k2b |
A |
G |
11: 97,615,300 (GRCm39) |
Y187H |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,956,687 (GRCm39) |
|
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
| Rtf1 |
C |
A |
2: 119,531,754 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
G |
A |
9: 107,480,114 (GRCm39) |
P208L |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
| Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
| Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
| Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
| Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation