Incidental Mutation 'IGL00852:Spmip4'
ID |
278029 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spmip4
|
Ensembl Gene |
ENSMUSG00000029828 |
Gene Name |
sperm microtubule inner protein 4 |
Synonyms |
4921507P07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL00852
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
50550282-50573612 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 50566164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031852]
[ENSMUST00000031852]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000031852
|
SMART Domains |
Protein: ENSMUSP00000031852 Gene: ENSMUSG00000029828
Domain | Start | End | E-Value | Type |
Pfam:DUF4555
|
1 |
283 |
2e-149 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000031852
|
SMART Domains |
Protein: ENSMUSP00000031852 Gene: ENSMUSG00000029828
Domain | Start | End | E-Value | Type |
Pfam:DUF4555
|
1 |
283 |
2e-149 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147260
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cfap157 |
T |
A |
2: 32,669,827 (GRCm39) |
Q252L |
possibly damaging |
Het |
Chd9 |
C |
A |
8: 91,699,835 (GRCm39) |
Q622K |
probably benign |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Cypt15-ps |
A |
T |
X: 38,435,507 (GRCm39) |
R56* |
probably null |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,330,597 (GRCm39) |
L721* |
probably null |
Het |
Dsc2 |
C |
T |
18: 20,167,740 (GRCm39) |
V718I |
probably benign |
Het |
Eef1b2 |
G |
A |
1: 63,217,665 (GRCm39) |
G91R |
probably damaging |
Het |
Epb41l1 |
C |
T |
2: 156,345,638 (GRCm39) |
L214F |
probably damaging |
Het |
Ibtk |
A |
C |
9: 85,595,654 (GRCm39) |
Y971D |
probably benign |
Het |
Lancl1 |
G |
A |
1: 67,043,996 (GRCm39) |
L335F |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,740,858 (GRCm39) |
W1035R |
probably damaging |
Het |
Pkn2 |
T |
A |
3: 142,515,577 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
G |
A |
10: 58,313,723 (GRCm39) |
R1481Q |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,366,748 (GRCm39) |
N313S |
probably benign |
Het |
Septin10 |
A |
G |
10: 59,028,642 (GRCm39) |
|
probably benign |
Het |
Serpinb6c |
A |
T |
13: 34,081,321 (GRCm39) |
|
probably null |
Het |
Slc22a19 |
C |
T |
19: 7,660,323 (GRCm39) |
M362I |
probably benign |
Het |
Tnni3k |
T |
A |
3: 154,760,206 (GRCm39) |
Q43L |
probably benign |
Het |
Trpm3 |
T |
A |
19: 22,964,435 (GRCm39) |
V1310D |
possibly damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,455,349 (GRCm39) |
S260R |
probably benign |
Het |
|
Other mutations in Spmip4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Spmip4
|
APN |
6 |
50,551,175 (GRCm39) |
missense |
probably benign |
|
IGL01568:Spmip4
|
APN |
6 |
50,550,678 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01794:Spmip4
|
APN |
6 |
50,554,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02718:Spmip4
|
APN |
6 |
50,561,367 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03146:Spmip4
|
APN |
6 |
50,550,853 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03381:Spmip4
|
APN |
6 |
50,566,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1173:Spmip4
|
UTSW |
6 |
50,566,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R1174:Spmip4
|
UTSW |
6 |
50,566,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R1175:Spmip4
|
UTSW |
6 |
50,566,121 (GRCm39) |
missense |
probably damaging |
0.98 |
R1769:Spmip4
|
UTSW |
6 |
50,568,801 (GRCm39) |
splice site |
probably benign |
|
R1883:Spmip4
|
UTSW |
6 |
50,551,433 (GRCm39) |
missense |
probably benign |
0.01 |
R2056:Spmip4
|
UTSW |
6 |
50,550,725 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2437:Spmip4
|
UTSW |
6 |
50,560,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R2929:Spmip4
|
UTSW |
6 |
50,551,285 (GRCm39) |
missense |
probably benign |
0.07 |
R4357:Spmip4
|
UTSW |
6 |
50,551,190 (GRCm39) |
missense |
probably benign |
|
R4666:Spmip4
|
UTSW |
6 |
50,572,808 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4791:Spmip4
|
UTSW |
6 |
50,572,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R4827:Spmip4
|
UTSW |
6 |
50,572,836 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4976:Spmip4
|
UTSW |
6 |
50,566,164 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5453:Spmip4
|
UTSW |
6 |
50,572,776 (GRCm39) |
critical splice donor site |
probably null |
|
R6689:Spmip4
|
UTSW |
6 |
50,566,089 (GRCm39) |
critical splice donor site |
probably null |
|
R6897:Spmip4
|
UTSW |
6 |
50,566,145 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7718:Spmip4
|
UTSW |
6 |
50,566,078 (GRCm39) |
splice site |
probably null |
|
R8475:Spmip4
|
UTSW |
6 |
50,566,107 (GRCm39) |
missense |
probably damaging |
0.99 |
R8885:Spmip4
|
UTSW |
6 |
50,551,028 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8975:Spmip4
|
UTSW |
6 |
50,561,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Spmip4
|
UTSW |
6 |
50,550,930 (GRCm39) |
missense |
|
|
X0021:Spmip4
|
UTSW |
6 |
50,550,906 (GRCm39) |
missense |
probably benign |
|
Z1176:Spmip4
|
UTSW |
6 |
50,551,001 (GRCm39) |
missense |
possibly damaging |
0.55 |
Z1177:Spmip4
|
UTSW |
6 |
50,568,672 (GRCm39) |
missense |
probably benign |
0.17 |
|
Posted On |
2015-04-16 |