Incidental Mutation 'R9356:Spam1'
| ID |
708411 |
| 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 # |
R9356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24800565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 435
(C435S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031693]
[ENSMUST00000202331]
[ENSMUST00000202569]
|
| AlphaFold |
P48794 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031693
AA Change: C435S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: C435S
| 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: C435S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: C435S
| 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: C435S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: C435S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,206,305 (GRCm39) |
V202M |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,264,144 (GRCm39) |
I354N |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,510,236 (GRCm39) |
D710E |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,345,421 (GRCm39) |
N204Y |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,394,627 (GRCm39) |
V139A |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,239,653 (GRCm39) |
E251G |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,687,408 (GRCm39) |
D530G |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,437 (GRCm39) |
V154E |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 136,996,968 (GRCm39) |
V3A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,252,069 (GRCm39) |
L929Q |
probably damaging |
Het |
| Ctss |
A |
C |
3: 95,454,120 (GRCm39) |
H224P |
possibly damaging |
Het |
| Cyp4a12a |
C |
A |
4: 115,185,915 (GRCm39) |
H408N |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpr162 |
T |
C |
6: 124,838,297 (GRCm39) |
M118V |
possibly damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,899,825 (GRCm39) |
C495* |
probably null |
Het |
| Ints9 |
T |
C |
14: 65,269,770 (GRCm39) |
S487P |
probably benign |
Het |
| Jmjd4 |
T |
A |
11: 59,345,761 (GRCm39) |
D280E |
probably benign |
Het |
| Krtap1-4 |
G |
A |
11: 99,474,169 (GRCm39) |
Q96* |
probably null |
Het |
| Ksr2 |
T |
A |
5: 117,827,706 (GRCm39) |
I495N |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,088,186 (GRCm39) |
N864Y |
probably damaging |
Het |
| Lce1f |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT |
3: 92,626,272 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,022,538 (GRCm39) |
V414A |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,415 (GRCm39) |
F211S |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,312 (GRCm39) |
E665G |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,938,837 (GRCm39) |
L86F |
probably damaging |
Het |
| Mfsd10 |
C |
A |
5: 34,794,048 (GRCm39) |
E22* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,482,760 (GRCm39) |
M735V |
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,725,873 (GRCm39) |
M1060L |
probably benign |
Het |
| Myo7b |
C |
A |
18: 32,110,096 (GRCm39) |
S1122I |
probably damaging |
Het |
| Nudt17 |
T |
A |
3: 96,613,688 (GRCm39) |
R313S |
probably damaging |
Het |
| Or52n5 |
A |
G |
7: 104,588,373 (GRCm39) |
I213M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,089 (GRCm39) |
Q193L |
probably benign |
Het |
| Or6c65 |
T |
G |
10: 129,604,035 (GRCm39) |
I223M |
possibly damaging |
Het |
| Or8h7 |
T |
A |
2: 86,720,605 (GRCm39) |
M305L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,617,890 (GRCm39) |
Y1741C |
probably damaging |
Het |
| Pja2 |
A |
G |
17: 64,618,204 (GRCm39) |
V65A |
probably damaging |
Het |
| Primpol |
A |
G |
8: 47,043,318 (GRCm39) |
V325A |
probably benign |
Het |
| Prss36 |
T |
C |
7: 127,545,697 (GRCm39) |
|
probably benign |
Het |
| Ptpn20 |
T |
G |
14: 33,352,865 (GRCm39) |
Y201* |
probably null |
Het |
| Rundc3a |
T |
C |
11: 102,292,890 (GRCm39) |
S428P |
probably damaging |
Het |
| Rxra |
T |
A |
2: 27,649,675 (GRCm39) |
L460Q |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,597,948 (GRCm39) |
V182M |
probably damaging |
Het |
| Slc14a2 |
A |
C |
18: 78,227,823 (GRCm39) |
I226S |
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,125,157 (GRCm39) |
K2618E |
possibly damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,277 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ttc39c |
T |
A |
18: 12,853,102 (GRCm39) |
|
probably null |
Het |
| Uba3 |
T |
C |
6: 97,161,811 (GRCm39) |
D440G |
probably benign |
Het |
| Ythdf1 |
A |
C |
2: 180,553,998 (GRCm39) |
S72R |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,917 (GRCm39) |
E384G |
possibly damaging |
Het |
| Zfp979 |
G |
T |
4: 147,698,358 (GRCm39) |
T117K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCCAAACACTTTGTAATG -3'
(R):5'- TACTGACTAGTGTCTTCCGTGG -3'
Sequencing Primer
(F):5'- CCAAACACTTTGTAATGAGAAAGGC -3'
(R):5'- CTGACTAGTGTCTTCCGTGGAAAAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation