Incidental Mutation 'R6066:Misp'
| ID |
484046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Misp
|
| Ensembl Gene |
ENSMUSG00000035852 |
| Gene Name |
mitotic spindle positioning |
| Synonyms |
9130017N09Rik |
| MMRRC Submission |
044230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
79656853-79666286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79662146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 188
(R188G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046833]
[ENSMUST00000169041]
[ENSMUST00000218687]
[ENSMUST00000219305]
[ENSMUST00000219734]
|
| AlphaFold |
Q9D279 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046833
AA Change: R188G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000048893
Gene: ENSMUSG00000035852
AA Change: R188G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
284 |
N/A |
INTRINSIC |
|
Pfam:AKAP2_C
|
294 |
643 |
2.2e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169041
AA Change: R188G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852
AA Change: R188G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
284 |
N/A |
INTRINSIC |
|
Pfam:AKAP2_C
|
294 |
643 |
1.7e-150 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218531
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218687
AA Change: R188G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219305
AA Change: R188G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219734
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
| Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
| Ak7 |
G |
T |
12: 105,699,750 (GRCm39) |
G223V |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
| Ampd3 |
A |
T |
7: 110,392,974 (GRCm39) |
E247D |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
| Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
| Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
| Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
| Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
| Ngly1 |
G |
A |
14: 16,294,634 (GRCm38) |
M521I |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
| Tatdn3 |
A |
T |
1: 190,778,465 (GRCm39) |
V242E |
probably benign |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
| Zbtb42 |
C |
A |
12: 112,646,041 (GRCm39) |
T72K |
probably damaging |
Het |
| Zfp493 |
G |
A |
13: 67,935,069 (GRCm39) |
A341T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly damaging |
Het |
|
| Other mutations in Misp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02419:Misp
|
APN |
10 |
79,663,705 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02565:Misp
|
APN |
10 |
79,662,177 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02901:Misp
|
APN |
10 |
79,662,771 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1118:Misp
|
UTSW |
10 |
79,662,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1421:Misp
|
UTSW |
10 |
79,662,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Misp
|
UTSW |
10 |
79,661,777 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2864:Misp
|
UTSW |
10 |
79,662,872 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3786:Misp
|
UTSW |
10 |
79,661,795 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5035:Misp
|
UTSW |
10 |
79,663,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5503:Misp
|
UTSW |
10 |
79,662,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Misp
|
UTSW |
10 |
79,662,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Misp
|
UTSW |
10 |
79,663,728 (GRCm39) |
nonsense |
probably null |
|
|
R6236:Misp
|
UTSW |
10 |
79,662,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Misp
|
UTSW |
10 |
79,662,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8170:Misp
|
UTSW |
10 |
79,662,300 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8479:Misp
|
UTSW |
10 |
79,663,750 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8961:Misp
|
UTSW |
10 |
79,663,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9430:Misp
|
UTSW |
10 |
79,661,675 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATCACCTGGACGACAGCAG -3'
(R):5'- GACTGCCAGGATCATTGACTATATGG -3'
Sequencing Primer
(F):5'- GACAGCAGTGACACCCTCTG -3'
(R):5'- TCATTGACTATATGGATGGATCTAGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation