Incidental Mutation 'I2288:Spam1'
| ID |
7905 |
| Institutional Source |
Beutler Lab
|
| 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 # |
I2288 (G3)
of strain
633
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24796477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 143
(I143V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031693]
[ENSMUST00000202331]
[ENSMUST00000202569]
|
| AlphaFold |
P48794 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031693
AA Change: I143V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: I143V
| 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: I143V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: I143V
| 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: I143V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: I143V
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
71% (138/195) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
| Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
| Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
| Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
| Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
| Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
| Or5w19 |
T |
A |
2: 87,698,479 (GRCm39) |
I48N |
probably damaging |
Het |
| Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
| Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
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 |
|
|
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 |
2012-11-13 |
Incidental Mutation