Incidental Mutation 'R1294:Spam1'
| ID |
158015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spam1
|
| Ensembl Gene |
ENSMUSG00000029682 |
| Gene Name |
sperm adhesion molecule 1 |
| Synonyms |
Ph-20 |
| MMRRC Submission |
039360-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24796906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 286
(I286V)
|
| 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: I286V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: I286V
| 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: I286V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: I286V
| 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: I286V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: I286V
| 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 |
0.1830 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
97% (33/34) |
| 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 |
|---|
| C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
| Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
| Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
| Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
| Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
| Klk1b3 |
C |
A |
7: 43,849,720 (GRCm39) |
S35Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,655,863 (GRCm39) |
V156A |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,592,015 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
| Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
| Slc25a20 |
A |
G |
9: 108,554,838 (GRCm39) |
M128V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,381,027 (GRCm39) |
F479Y |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
A |
11: 58,533,953 (GRCm39) |
I169N |
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAAATTCCTTCGACCAAACCA -3'
(R):5'- GGAAGCATTTACACAGGACAACACCA -3'
Sequencing Primer
(F):5'- CCAAACCAGCTATGGGGTTATTATC -3'
(R):5'- gccctgtatgttctttggtttg -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation