Incidental Mutation 'IGL03146:Spmip4'
| ID |
410926 |
| 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: 0.057)
|
| Stock # |
IGL03146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
50550282-50573612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50550853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 532
(V532E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031852]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031852
AA Change: V532E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828
AA Change: V532E
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184470
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,294,519 (GRCm39) |
D360G |
probably damaging |
Het |
| Adam6a |
A |
T |
12: 113,509,144 (GRCm39) |
T506S |
probably damaging |
Het |
| Adamts15 |
A |
G |
9: 30,832,863 (GRCm39) |
V224A |
probably damaging |
Het |
| Arhgef12 |
G |
T |
9: 42,885,866 (GRCm39) |
D1251E |
possibly damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,903,840 (GRCm39) |
|
probably benign |
Het |
| Ccdc85c |
G |
A |
12: 108,173,395 (GRCm39) |
R387* |
probably null |
Het |
| Cfap57 |
T |
A |
4: 118,456,216 (GRCm39) |
I493F |
probably damaging |
Het |
| Chst9 |
A |
G |
18: 15,586,035 (GRCm39) |
I176T |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,234,112 (GRCm39) |
V572L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,744,873 (GRCm39) |
N1374I |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,350,134 (GRCm39) |
M273K |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,061 (GRCm39) |
E414G |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,327,368 (GRCm39) |
F122L |
probably damaging |
Het |
| Fcho1 |
A |
G |
8: 72,170,074 (GRCm39) |
|
probably benign |
Het |
| Fermt3 |
T |
C |
19: 6,980,631 (GRCm39) |
E312G |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
G |
A |
5: 92,214,399 (GRCm39) |
R132C |
probably damaging |
Het |
| Inpp4b |
A |
T |
8: 82,470,410 (GRCm39) |
I35F |
possibly damaging |
Het |
| Izumo3 |
T |
G |
4: 92,033,276 (GRCm39) |
I107L |
probably damaging |
Het |
| Lama3 |
C |
A |
18: 12,660,681 (GRCm39) |
Q484K |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,828,955 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,874,163 (GRCm39) |
N1735S |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,402 (GRCm39) |
D119G |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,488 (GRCm39) |
M187K |
possibly damaging |
Het |
| Oxct1 |
T |
C |
15: 4,130,630 (GRCm39) |
L374P |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,678,823 (GRCm39) |
Q382* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,821,714 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
T |
C |
15: 5,198,122 (GRCm39) |
V146A |
probably damaging |
Het |
| Ptprb |
C |
T |
10: 116,164,032 (GRCm39) |
A900V |
probably benign |
Het |
| Rgs6 |
A |
T |
12: 83,099,312 (GRCm39) |
D130V |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,793,457 (GRCm39) |
R1344L |
probably benign |
Het |
| Scgb1b12 |
C |
A |
7: 32,033,969 (GRCm39) |
D76E |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,311,585 (GRCm39) |
E633D |
probably benign |
Het |
| Slc1a7 |
T |
A |
4: 107,850,189 (GRCm39) |
I100N |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,859,678 (GRCm39) |
K64E |
possibly damaging |
Het |
| Stil |
C |
A |
4: 114,881,612 (GRCm39) |
Q719K |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,070,562 (GRCm39) |
L265Q |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,095,246 (GRCm39) |
E169G |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,504,174 (GRCm39) |
L101P |
probably damaging |
Het |
| Trgv3 |
C |
A |
13: 19,427,337 (GRCm39) |
Y73* |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,330,846 (GRCm39) |
Q458* |
probably null |
Het |
|
| Other mutations in Spmip4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00852:Spmip4
|
APN |
6 |
50,566,164 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation