Incidental Mutation 'R2929:Spmip4'
| ID |
254945 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2929 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
50550282-50573612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50551285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 388
(T388I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031852]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031852
AA Change: T388I
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828
AA Change: T388I
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd177 |
G |
A |
7: 24,453,704 (GRCm39) |
Q396* |
probably null |
Het |
| Cdadc1 |
A |
T |
14: 59,835,284 (GRCm39) |
M1K |
probably null |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Cnnm3 |
T |
A |
1: 36,563,140 (GRCm39) |
F701L |
possibly damaging |
Het |
| Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,759,699 (GRCm39) |
V268A |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,486,484 (GRCm39) |
V399I |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,486,612 (GRCm39) |
Q1021L |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,143 (GRCm39) |
K932* |
probably null |
Het |
| Neurl2 |
T |
C |
2: 164,675,264 (GRCm39) |
N33D |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,680,617 (GRCm39) |
S534P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,256,712 (GRCm39) |
T271M |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,858 (GRCm39) |
M191V |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,185 (GRCm39) |
Q369R |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,208,763 (GRCm39) |
I300V |
probably benign |
Het |
| Ro60 |
G |
A |
1: 143,633,616 (GRCm39) |
A494V |
possibly damaging |
Het |
| Sco1 |
T |
A |
11: 66,954,748 (GRCm39) |
I251K |
probably damaging |
Het |
| Zfp202 |
T |
C |
9: 40,122,984 (GRCm39) |
V582A |
possibly damaging |
Het |
| Zfp219 |
T |
A |
14: 52,246,436 (GRCm39) |
E230D |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTAGGCAGACTTAAGTGG -3'
(R):5'- CCTTTGGATGGTCGAATTGCC -3'
Sequencing Primer
(F):5'- AGGCAGACTTAAGTGGTTCATAGTC -3'
(R):5'- CGAATTGCCCGACTTACTCAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation