Incidental Mutation 'R5453:Spmip4'
ID |
432623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spmip4
|
Ensembl Gene |
ENSMUSG00000029828 |
Gene Name |
sperm microtubule inner protein 4 |
Synonyms |
4921507P07Rik |
MMRRC Submission |
043017-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R5453 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
50550282-50573612 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 50572776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031852
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[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 |
noncoding transcript
Transcript: ENSMUST00000126537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203814
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
Anxa1 |
C |
T |
19: 20,357,703 (GRCm39) |
|
probably null |
Het |
Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
Hoxb3 |
T |
C |
11: 96,235,480 (GRCm39) |
S136P |
probably damaging |
Het |
Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
Hycc1 |
A |
G |
5: 24,192,877 (GRCm39) |
|
probably null |
Het |
Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
Klb |
T |
A |
5: 65,540,728 (GRCm39) |
F940L |
probably benign |
Het |
Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
Nyap2 |
A |
C |
1: 81,169,857 (GRCm39) |
I205L |
probably benign |
Het |
Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
Zfp84 |
A |
G |
7: 29,475,722 (GRCm39) |
E138G |
possibly damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAGAATATGCCTCCCTTG -3'
(R):5'- AACCAAGGCAGTTTACAAGTCC -3'
Sequencing Primer
(F):5'- GAAGAATATGCCTCCCTTGTTATAGC -3'
(R):5'- GGCAGTTTACAAGTCCAAATTTTC -3'
|
Posted On |
2016-10-06 |