Incidental Mutation 'IGL02968:Spam1'
ID |
365689 |
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 # |
IGL02968
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24796442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 131
(E131G)
|
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: E131G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031693 Gene: ENSMUSG00000029682 AA Change: E131G
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: E131G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143944 Gene: ENSMUSG00000029682 AA Change: E131G
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: E131G
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143970 Gene: ENSMUSG00000029682 AA Change: E131G
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,900,454 (GRCm39) |
D441V |
probably damaging |
Het |
Abcd1 |
T |
C |
X: 72,760,664 (GRCm39) |
S10P |
possibly damaging |
Het |
Acad12 |
T |
C |
5: 121,748,101 (GRCm39) |
S106G |
probably benign |
Het |
C1s1 |
T |
C |
6: 124,517,310 (GRCm39) |
T127A |
probably damaging |
Het |
Cela3a |
A |
G |
4: 137,131,132 (GRCm39) |
V202A |
probably damaging |
Het |
Cenpu |
T |
C |
8: 47,009,230 (GRCm39) |
|
probably null |
Het |
Dusp9 |
T |
C |
X: 72,685,039 (GRCm39) |
S222P |
probably benign |
Het |
Exoc5 |
A |
G |
14: 49,270,726 (GRCm39) |
|
probably null |
Het |
Foxp1 |
G |
T |
6: 99,052,822 (GRCm39) |
A90D |
probably damaging |
Het |
Krt12 |
G |
T |
11: 99,308,843 (GRCm39) |
A398E |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,828,364 (GRCm39) |
T183K |
possibly damaging |
Het |
Napa |
T |
C |
7: 15,847,266 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,304,024 (GRCm39) |
E167G |
possibly damaging |
Het |
Nos2 |
T |
C |
11: 78,828,463 (GRCm39) |
Y148H |
probably damaging |
Het |
Or2t43 |
T |
C |
11: 58,458,021 (GRCm39) |
D50G |
possibly damaging |
Het |
Or51aa5 |
C |
T |
7: 103,167,466 (GRCm39) |
V42M |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,451 (GRCm39) |
F163I |
possibly damaging |
Het |
Pde7a |
G |
A |
3: 19,297,285 (GRCm39) |
R122* |
probably null |
Het |
Pkdrej |
A |
T |
15: 85,700,382 (GRCm39) |
Y1851* |
probably null |
Het |
Rbl1 |
C |
T |
2: 157,019,194 (GRCm39) |
R517H |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,383,947 (GRCm39) |
S661T |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,743,318 (GRCm39) |
D3886G |
probably damaging |
Het |
Samd9l |
A |
G |
6: 3,376,026 (GRCm39) |
Y412H |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,414,915 (GRCm39) |
S530P |
probably damaging |
Het |
Tmem185b |
C |
A |
1: 119,454,851 (GRCm39) |
A204E |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,249 (GRCm39) |
K413E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,849,068 (GRCm39) |
S2448P |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,641 (GRCm39) |
S634G |
probably benign |
Het |
Zic1 |
G |
A |
9: 91,244,543 (GRCm39) |
T372M |
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 |
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 |
2015-12-18 |