Incidental Mutation 'R6689:Spmip4'
ID |
527886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spmip4
|
Ensembl Gene |
ENSMUSG00000029828 |
Gene Name |
sperm microtubule inner protein 4 |
Synonyms |
4921507P07Rik |
MMRRC Submission |
044807-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6689 (G1)
|
Quality Score |
225.009 |
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 50566089 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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankk1 |
T |
A |
9: 49,331,776 (GRCm39) |
I173F |
probably damaging |
Het |
Aurka |
A |
G |
2: 172,212,313 (GRCm39) |
|
probably null |
Het |
B4galnt4 |
C |
T |
7: 140,647,897 (GRCm39) |
T471I |
probably benign |
Het |
Ccn1 |
T |
A |
3: 145,353,543 (GRCm39) |
M340L |
probably benign |
Het |
Commd6 |
C |
A |
14: 101,877,895 (GRCm39) |
|
probably benign |
Het |
Elobl |
T |
C |
11: 88,855,919 (GRCm39) |
N48S |
possibly damaging |
Het |
Grem1 |
T |
C |
2: 113,580,276 (GRCm39) |
E75G |
probably benign |
Het |
Hp |
C |
T |
8: 110,302,352 (GRCm39) |
V199I |
probably benign |
Het |
Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
Lgr5 |
T |
A |
10: 115,302,513 (GRCm39) |
I293F |
probably damaging |
Het |
Lmln |
A |
G |
16: 32,925,152 (GRCm39) |
R462G |
probably benign |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Mroh4 |
A |
G |
15: 74,483,852 (GRCm39) |
V495A |
probably damaging |
Het |
Or10c1 |
C |
G |
17: 37,522,048 (GRCm39) |
G232A |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,808,498 (GRCm39) |
I214T |
probably benign |
Het |
Stim2 |
G |
A |
5: 54,273,318 (GRCm39) |
R524H |
probably 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 |
|
R5453:Spmip4
|
UTSW |
6 |
50,572,776 (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'- CACAGAGCCTGTTTGGTTTG -3'
(R):5'- GCCTGTTTAGGGAAAACTTCTTAC -3'
Sequencing Primer
(F):5'- GTTTGTTTCCATTTGCTTAGTGC -3'
(R):5'- ATGCTCTCTGTAGAAGCTCTGTATAG -3'
|
Posted On |
2018-07-23 |