Incidental Mutation 'IGL00769:Spmap1'
ID |
8417 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spmap1
|
Ensembl Gene |
ENSMUSG00000018543 |
Gene Name |
sperm microtubule associated protein 1 |
Synonyms |
1700001P01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL00769
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
97662307-97666744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 97662407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 155
(F155S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107576]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107576
AA Change: F155S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103202 Gene: ENSMUSG00000018543 AA Change: F155S
Domain | Start | End | E-Value | Type |
Pfam:DUF4542
|
12 |
146 |
5.8e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120130
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
Other mutations in Spmap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02372:Spmap1
|
APN |
11 |
97,666,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R1720:Spmap1
|
UTSW |
11 |
97,662,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R3684:Spmap1
|
UTSW |
11 |
97,666,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R4592:Spmap1
|
UTSW |
11 |
97,662,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R5250:Spmap1
|
UTSW |
11 |
97,663,553 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8975:Spmap1
|
UTSW |
11 |
97,663,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Spmap1
|
UTSW |
11 |
97,666,510 (GRCm39) |
missense |
probably damaging |
0.98 |
R9790:Spmap1
|
UTSW |
11 |
97,666,594 (GRCm39) |
missense |
probably benign |
0.07 |
R9791:Spmap1
|
UTSW |
11 |
97,666,594 (GRCm39) |
missense |
probably benign |
0.07 |
X0020:Spmap1
|
UTSW |
11 |
97,666,489 (GRCm39) |
nonsense |
probably null |
|
X0063:Spmap1
|
UTSW |
11 |
97,666,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2012-12-06 |