Incidental Mutation 'R6754:Spam1'
| ID |
530954 |
| 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 # |
R6754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24791187-24801047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24796315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 89
(T89A)
|
| 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: T89A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: T89A
| 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: T89A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: T89A
| 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: T89A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: T89A
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
C |
17: 57,190,358 (GRCm39) |
F352L |
probably damaging |
Het |
| Acta2 |
T |
C |
19: 34,222,383 (GRCm39) |
D246G |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,890,488 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,909,439 (GRCm39) |
I971N |
probably damaging |
Het |
| C9 |
C |
A |
15: 6,519,424 (GRCm39) |
C8* |
probably null |
Het |
| Casp2 |
T |
A |
6: 42,246,264 (GRCm39) |
N207K |
probably damaging |
Het |
| Cd302 |
T |
G |
2: 60,102,451 (GRCm39) |
D56A |
probably benign |
Het |
| Cecr2 |
C |
T |
6: 120,734,539 (GRCm39) |
P605S |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,588 (GRCm39) |
V723A |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,639,160 (GRCm39) |
|
probably null |
Het |
| Ctsk |
T |
C |
3: 95,409,996 (GRCm39) |
V168A |
probably damaging |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,004 (GRCm39) |
N176K |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| F5 |
A |
G |
1: 164,021,332 (GRCm39) |
D1269G |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,005,382 (GRCm39) |
G660D |
probably benign |
Het |
| Hspb3 |
A |
T |
13: 113,799,688 (GRCm39) |
I114K |
probably damaging |
Het |
| Irag1 |
G |
A |
7: 110,528,719 (GRCm39) |
P43S |
probably damaging |
Het |
| Itgb7 |
T |
G |
15: 102,124,595 (GRCm39) |
*807C |
probably null |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,239 (GRCm39) |
V499A |
probably damaging |
Het |
| Lemd3 |
A |
T |
10: 120,769,565 (GRCm39) |
I589N |
probably damaging |
Het |
| Mettl13 |
T |
C |
1: 162,375,692 (GRCm39) |
Y45C |
probably damaging |
Het |
| Mllt6 |
C |
T |
11: 97,565,273 (GRCm39) |
T571I |
probably damaging |
Het |
| Nabp1 |
A |
G |
1: 51,513,699 (GRCm39) |
I99T |
probably damaging |
Het |
| Ndufa4 |
A |
G |
6: 11,906,052 (GRCm39) |
V33A |
probably benign |
Het |
| Nr1h5 |
A |
G |
3: 102,856,913 (GRCm39) |
S200P |
probably damaging |
Het |
| Ntsr1 |
G |
A |
2: 180,184,476 (GRCm39) |
R393H |
probably benign |
Het |
| Obi1 |
C |
T |
14: 104,740,850 (GRCm39) |
E191K |
probably damaging |
Het |
| Or14j4 |
T |
C |
17: 37,921,046 (GRCm39) |
N199D |
probably benign |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Pcdhb21 |
A |
T |
18: 37,647,736 (GRCm39) |
K288N |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,190,510 (GRCm39) |
N351D |
probably benign |
Het |
| Polg |
T |
C |
7: 79,109,584 (GRCm39) |
E411G |
probably damaging |
Het |
| Prdm11 |
A |
G |
2: 92,844,137 (GRCm39) |
L31P |
probably damaging |
Het |
| Rab27b |
G |
A |
18: 70,129,174 (GRCm39) |
T40I |
probably damaging |
Het |
| Ruvbl2 |
T |
C |
7: 45,078,182 (GRCm39) |
D97G |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,454,453 (GRCm39) |
Y328N |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,649,243 (GRCm39) |
V664A |
possibly damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,644,542 (GRCm39) |
S842P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,863,038 (GRCm39) |
G2187E |
probably benign |
Het |
| Tff2 |
C |
A |
17: 31,363,207 (GRCm39) |
A6S |
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,339,000 (GRCm39) |
V610A |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,057 (GRCm39) |
V47A |
possibly damaging |
Het |
| Ufl1 |
G |
A |
4: 25,267,796 (GRCm39) |
Q292* |
probably null |
Het |
| Ulk1 |
A |
T |
5: 110,938,259 (GRCm39) |
V571E |
possibly damaging |
Het |
| Usp24 |
A |
T |
4: 106,217,617 (GRCm39) |
N447Y |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,993,774 (GRCm39) |
I278K |
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 |
|
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'- GGGCACATTCCAAACAGTG -3'
(R):5'- AGGTAGGCCTCCATTCTTCC -3'
Sequencing Primer
(F):5'- GGGCACATTCCAAACAGTGTTAATC -3'
(R):5'- TCTTCCCAGTCAATGATAGCTAAGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation